cancer treatment [170–172], which again demonstrates the impact of these conditions on body image [170, 172]. Furthermore, in the case of PWS, having had an early birthmark resorption treatment (e.g., flash-lamp pulsed dye laser) has a positive effect on the subject's QoL [109]. Although many studies have shown the benefit of cosmetic camouflage in patients with skin disfigurement [173], another research has suggested that hiding any type of stigmatizing identity could have a negative impact on physical and psychological QoL [174]. Thus, the skin is a highly symbolically invested organ [175] and such genetic pathologies, like any visible disease, seem to induce stigmatization and social isolation, which are sources of anxiety, depressive disorders, emotional distress, impairment of QoL, and withdrawal [176].

In a surprising way, albinism is, in this study, the only genetic condition for which body image, and the visibility and severity of disease were not assessed. In PWA, low vision and QoL were the issues that Western researchers focused on most [177, 178]. In sharp contrast with the African continent, studies focused more on issues of discrimination linked to local beliefs and superstitions [19–22]. Many papers reported on the violence suffered by young PWA who were stalked, assaulted, or even killed for their physical attributes (hair, bones, etc.), particularly in Tanzania and Malawi. Furthermore, Africa has a majority dark-skinned population, making albinism all the more visible and therefore stigmatizing in the social environment. As we can see, the geographical and cultural context is a decisive factor in the understanding of this condition; health issues are drastically higher in Africa than in the rest of the world.

Considering this, it can also be noted that albinism, NF1, and ichthyosis are similar on several other issues, including the impact of the disease on daily life [31, 89, 92, 122, 128], on love life and sexuality [31, 37, 92, 110, 111, 115, 122], on academic and professional aspirations [31, 37, 111, 115, 122, 128], and finally on the lack of knowledge and interest from the medical community [39, 92, 112, 119]. Firstly, we can observe that impact on daily life greatly varies depending on the disease and the severity of the associated symptoms. In albinism, low vision seems to restrict patients' mobility as they are not allowed to drive a car [31], whereas in ichthyosis and NF1, unpleasant body sensations and pain disturb patients' sleep and walking [89, 92, 120, 128]. Thus, even though these rare diseases fit into the same taxonomic category, the complexity of their particularities invites us to distinguish them according to the specificities of their psychosocial impact. Mobility issues are also a widely identified difficulty in visual impairments such as glaucoma [179, 180], age-related macular degeneration (AMD) [181, 182], and diabetic

retinopathy [183, 184]. Therefore, in terms of daily functioning, albinism is also comparable to ophthalmological conditions. However, there is one aspect on which all of these conditions converge: the importance of taking care of one's skin to avoid discomfort and complications. This long-term preventive treatment seems to play an important role in patients' daily lives.

These three genetic conditions also seemed to have a negative impact on patients' love and sex lives [31, 37, 92, 110, 111, 115, 122]. Studies on other visible conditions have observed similar results such as vitiligo [185], or in the case of severe burns [186]. The skin is an undeniable vector of intimacy and sexuality; when it is altered, body image is disturbed, and concerns about appearance and touch can make intimate relationships difficult.

Albinism and NF1 also share various other problems. Research showed a wide variety of adaptive strategies used by patients: use of repartee and humor in awkward social situations, scientific knowledge seeking, fighting spirit, spirituality, patient community involvement, physical hypervigilance, etc. [31, 32, 39, 111, 112, 120, 121]. These coping strategies are directly related to the fact that patients must constantly adapt themselves to societal norms in order to be seen as “normal”. Some even said they seemed to experience an "abnormality complex" when comparing themselves to others, both in terms of ability and learning [31, 33, 42, 112, 119]. For some people, there is a compelling need to conform, even if it means forcing themselves to pretend that they don't have a disability (e.g., a child pretending to be able to read on the blackboard when they cannot). This type of behavior requires considerable effort from the person who gradually becomes exhausted and therefore weakens. Other studies revealed similar results in patients with intellectual disabilities [187, 188] and visual impairments [189]. Indeed, depending on the degree to which their impairment is mild or severe, people with physical or sensory impairments might attempt to overcome their difficulties in order to be considered as “normal” [136].

Finally, research has highlighted the distress experienced by some parents of children with NF1 or albinism. In this regard, parental stress and family functioning have been extensively studied in parents of children with developmental or intellectual disabilities [190] and sensory or physical impairments [191]. However, in the context of RGSD, parental distress has been supplemented by another concept. For all these conditions (with the exception of PWS), the prominence of guilt in the transmission of genetic disease is also notable. This notion has already been discussed by Chaumet in 2006, whose study explains that although the genetic disease may strengthen
a sense of family belonging, it also makes the parent(s) feel guilty about giving the child a difficult and / or challenging life. Thus, choosing to have a child or not when affected by one of these genetic conditions becomes a real individual and family issue.

## Limitations

One of the main limitations of this review is the very attempt to synthesize common findings when the genetic conditions cover a wide range of different symptoms. Even if skin gathers these diseases within the same category, the skin is not affected in the same way in the case of albinism (hypopigmentation, photosensitivity) or NF1 (café-au-lait spots, neurofibromas). Moreover, some of these conditions are divided into subcategories according to the phenotypic or genotypic specificities of each. For example, albinism may be ocular, oculocutaneous, or syndromic, and the related psychosocial issues may vary from one form to another. One of the main differences identified in this review concerns OCA and HPS; syndromic forms of albinism which cause physiological disturbances (coagulopathy, an increased risk of neutropenia, pulmonary fibrosis, or Crohn's disease) that are not found in non-syndromic forms [192]. This aspect of the disease is an additional concern for HPS patients, who are sometimes worried about the unpredictable nature of the disease's evolution [39].

Secondly, the methodological constraints inherent to the field of rare diseases make the generalization of these results almost impossible. The fact that these genetic diseases are very poorly represented in the general population makes it difficult to recruit voluntary participants. Sample sizes are often too small and suffer from representativeness bias. Even if some of these studies show significant results, the vast majority cannot generalize their observations. This results in great heterogeneity in study designs, sampling, and data collected, making it difficult to harmonize our findings. It should also be noted that the geographical context in which these studies were carried out has a major influence on the results, particularly in the case of albinism, and makes the synthesis of knowledge even more complex.

## Perspectives

One of the recurrent themes that we have not detailed above concerns the lack of interest and knowledge of doctors regarding RGSDs [31, 39, 92, 112, 119]. In this respect, it is important to note that rare diseases have never attracted as much interest around the world as they do today. In the last 20 years, medical findings in genetics have grown steadily, have improved diagnostic techniques, and deepened our understanding of how

many diseases work. However, there are still large grey areas, and institutional and practitioner priorities remain focused on more common or more severe diseases (cancer, diabetes, cardiovascular diseases, dementia, etc.). As mentioned in our introduction, today 6000 to 8000 rare diseases have been identified in the world, each of them having a very particular functioning, more or less complex depending on the case. It is therefore almost impossible to be an expert on all of these diseases and to know how to take care of these patients. This issue can be illustrated by the fact that, in France, several patients with a rare disease experience significant diagnostic wandering, which can last up to six years after the first symptoms appear [2]. If physicians are in difficulty because they have scarce knowledge of these conditions, would they perhaps express a lack of interest in order to absolve themselves of responsibility for their medical follow-up?

At the medical level, genetic diseases raise a thorny ethical question regarding prenatal diagnosis. When parents know they are carriers of a potentially transmissible genetic anomaly, in particular contexts, they can resort to prenatal diagnosis and even selective termination of pregnancy if the fetus is affected. Clarke (2013) [193] addressed this question in families with Hypohidrotic Ectodermal Dysplasia and showed that opinions were divided among the participants; some were in favor of using these medical techniques, others against. This gap in opinion may then become a central issue for the parental couple who will have to make a crucial decision for their future. These ethical and legal questions have already been raised in the context of trisomy 21, in particular regarding the proximity that certain practices have with eugenics [194–196].

Secondly, in order to optimize healthcare, we could imagine developing a care plan that would begin as soon as the person is diagnosed. In fact, setting up a system with healthcare support time from when the diagnosis is first made would provide patients with important information about their condition, and would allow them to be oriented in the best healthcare pathway. These care systems have already shown their benefits when a serious illness, such as cancer, is diagnosed [197]. With this aim in mind, we can cite a French and a Korean team that have recently developed guidelines to help practitioners in the diagnosis and care of albinism [198] and NF1 [199]. In addition, practitioners could also offer patients the opportunity to participate in therapeutic education (TPE) sessions to learn how to manage their symptoms and develop coping strategies that would be useful in their daily lives. Some hospitals have already started to set up such a programme. For example, another French team has also developed a TPE protocol for children and adolescents with albinism and their parents [200].
a sense of family belonging, it also makes the parent(s) feel guilty about giving the child a difficult and / or challenging life. Thus, choosing to have a child or not when affected by one of these genetic conditions becomes a real individual and family issue.

## Limitations

One of the main limitations of this review is the very attempt to synthesize common findings when the genetic conditions cover a wide range of different symptoms. Even if skin gathers these diseases within the same category, the skin is not affected in the same way in the case of albinism (hypopigmentation, photosensitivity) or NF1 (café-au-lait spots, neurofibromas). Moreover, some of these conditions are divided into subcategories according to the phenotypic or genotypic specificities of each. For example, albinism may be ocular, oculocutaneous, or syndromic, and the related psychosocial issues may vary from one form to another. One of the main differences identified in this review concerns OCA and HPS; syndromic forms of albinism which cause physiological disturbances (coagulopathy, an increased risk of neutropenia, pulmonary fibrosis, or Crohn's disease) that are not found in non-syndromic forms [192]. This aspect of the disease is an additional concern for HPS patients, who are sometimes worried about the unpredictable nature of the disease's evolution [39].

Secondly, the methodological constraints inherent to the field of rare diseases make the generalization of these results almost impossible. The fact that these genetic diseases are very poorly represented in the general population makes it difficult to recruit voluntary participants. Sample sizes are often too small and suffer from representativeness bias. Even if some of these studies show significant results, the vast majority cannot generalize their observations. This results in great heterogeneity in study designs, sampling, and data collected, making it difficult to harmonize our findings. It should also be noted that the geographical context in which these studies were carried out has a major influence on the results, particularly in the case of albinism, and makes the synthesis of knowledge even more complex.

## Perspectives

One of the recurrent themes that we have not detailed above concerns the lack of interest and knowledge of doctors regarding RGSDs [31, 39, 92, 112, 119]. In this respect, it is important to note that rare diseases have never attracted as much interest around the world as they do today. In the last 20 years, medical findings in genetics have grown steadily, have improved diagnostic techniques, and deepened our understanding of how

many diseases work. However, there are still large grey areas, and institutional and practitioner priorities remain focused on more common or more severe diseases (cancer, diabetes, cardiovascular diseases, dementia, etc.). As mentioned in our introduction, today 6000 to 8000 rare diseases have been identified in the world, each of them having a very particular functioning, more or less complex depending on the case. It is therefore almost impossible to be an expert on all of these diseases and to know how to take care of these patients. This issue can be illustrated by the fact that, in France, several patients with a rare disease experience significant diagnostic wandering, which can last up to six years after the first symptoms appear [2]. If physicians are in difficulty because they have scarce knowledge of these conditions, would they perhaps express a lack of interest in order to absolve themselves of responsibility for their medical follow-up?

At the medical level, genetic diseases raise a thorny ethical question regarding prenatal diagnosis. When parents know they are carriers of a potentially transmissible genetic anomaly, in particular contexts, they can resort to prenatal diagnosis and even selective termination of pregnancy if the fetus is affected. Clarke (2013) [193] addressed this question in families with Hypohidrotic Ectodermal Dysplasia and showed that opinions were divided among the participants; some were in favor of using these medical techniques, others against. This gap in opinion may then become a central issue for the parental couple who will have to make a crucial decision for their future. These ethical and legal questions have already been raised in the context of trisomy 21, in particular regarding the proximity that certain practices have with eugenics [194–196].

Secondly, in order to optimize healthcare, we could imagine developing a care plan that would begin as soon as the person is diagnosed. In fact, setting up a system with healthcare support time from when the diagnosis is first made would provide patients with important information about their condition, and would allow them to be oriented in the best healthcare pathway. These care systems have already shown their benefits when a serious illness, such as cancer, is diagnosed [197]. With this aim in mind, we can cite a French and a Korean team that have recently developed guidelines to help practitioners in the diagnosis and care of albinism [198] and NF1 [199]. In addition, practitioners could also offer patients the opportunity to participate in therapeutic education (TPE) sessions to learn how to manage their symptoms and develop coping strategies that would be useful in their daily lives. Some hospitals have already started to set up such a programme. For example, another French team has also developed a TPE protocol for children and adolescents with albinism and their parents [200].
<table><caption>**Table 5** Details of reviewed studies about birthmarks, according to location, sample, method design and significant outcomes</caption><thead><tr><th>Setting</th><th>Location</th><th>N</th><th>Method</th><th>Design</th><th>Tools</th><th>Comparator(s)</th><th>IV(s)</th><th>DV(s)</th><th>Results</th><th>Study quality</th></tr></thead><tbody><tr><td>Wang et al. [102]</td><td>China</td><td>197</td><td>Cross-sectional—<br>quantitative (moder-<br>ate)</td><td>Questionnaire (DLQI)</td><td>196 vitiligo subjects</td><td>PWS characteristics</td><td>Skin-disease-specific<br>QoL</td><td></td><td>PWS patients QoL↓<br>vs. vitiligo patients<br>(esp. feelings, daily<br>activities, leisure,<br>work/school, treat-<br>ment)***<br>QoL↓ ← ♀; hyper-<br>trophy↑; size of skin<br>lesion↑</td><td>High</td></tr><tr><td>Hagen et al. [101]</td><td>USA</td><td>244</td><td>Cross-sectional—<br>quantitative (low)</td><td>Questionnaire (Skin-<br>dex-29; OGs)</td><td>14 other skin condi-<br>tions extracted from<br>previous studies</td><td>Socialization w/<br>others; medical<br>comorbidities; PWS<br>severity; treatments</td><td>Skin-disease-specific<br>QoL</td><td></td><td>Anxiety & depres-<br>sion: most reported<br>comorbidities<br>and associated w/<br>impact on QoL↑***<br>QoL ↔ comorbid<br>depression**, lim-<br>ited facial mobility**,<br>presence of other<br>skin conditions*</td><td>Moderate</td></tr></tbody></table>
<table><caption>**Table 5** Details of reviewed studies about birthmarks, according to location, sample, method design and significant outcomes</caption><thead><tr><th>Setting</th><th>Location</th><th>N</th><th>Method</th><th>Design</th><th>Tools</th><th>Comparator(s)</th><th>IV(s)</th><th>DV(s)</th><th>Results</th><th>Study quality</th></tr></thead><tbody><tr><td>Wang et al. [102]</td><td>China</td><td>197</td><td>Cross-sectional—<br>quantitative (moder-<br>ate)</td><td>Questionnaire (DLQI)</td><td>196 vitiligo subjects</td><td>PWS characteristics</td><td>Skin-disease-specific<br>QoL</td><td></td><td>PWS patients QoL↓<br>vs. vitiligo patients<br>(esp. feelings, daily<br>activities, leisure,<br>work/school, treat-<br>ment)***<br>QoL↓ ← ♀; hyper-<br>trophy↑; size of skin<br>lesion↑</td><td>High</td></tr><tr><td>Hagen et al. [101]</td><td>USA</td><td>244</td><td>Cross-sectional—<br>quantitative (low)</td><td>Questionnaire (Skin-<br>dex-29; OGs)</td><td>14 other skin condi-<br>tions extracted from<br>previous studies</td><td>Socialization w/<br>others; medical<br>comorbidities; PWS<br>severity; treatments</td><td>Skin-disease-specific<br>QoL</td><td></td><td>Anxiety & depres-<br>sion: most reported<br>comorbidities<br>and associated w/<br>impact on QoL↑***<br>QoL ↔ comorbid<br>depression**, lim-<br>ited facial mobility**,<br>presence of other<br>skin conditions*</td><td>Moderate</td></tr></tbody></table>
<table><caption>**Table 5 (continued)**</caption><thead><tr><th>Setting</th><th>Location</th><th>N</th><th>Method</th><th>Design</th><th>Tools</th><th>Comparator(s)</th><th>IV(s)</th><th>DV(s)</th><th>Results</th><th>Study quality</th></tr></thead><tbody><tr><td>Augustin et al. [132]</td><td>Germany</td><td>70</td><td>Cross-sectional—<br>quantitative (low)</td><td>Dermatologist's<br>clinical assessment;<br>Questionnaires (SCL-<br>53R; ALLTAG; CSDQ;<br>FKS; OGs)</td><td></td><td>1006 non-affected<br>subjects (extracted<br>from another study)</td><td>Skin-specific coping;<br>impact of PWS;<br>global QoL limita-<br>tions</td><td>Emotional well-<br>being; body image</td><td>PWS patients:<br>emotional well-<br>being↓ (interper-<br>sonal sensitivity***<br>anxiety**, hostility**,<br>phobic anxiety**,<br>paranoid ideation**);<br>body perception↓<br>(attractiveness/self-<br>confidence*); QoL<br>(social relationship*)<br>vs. non-affected<br>subjects</td><td>High</td></tr><tr><td>Ben-Tovim & Walker,<br>[131]</td><td>Australia</td><td>52 (includ-<br>ing about 5<br>adoles-<br>cents)</td><td>Cross-sectional—<br>quantitative (moder-<br>ate)</td><td>Questionnaires<br>(BAQ)</td><td></td><td>49 rheumatoid<br>arthritis; 23 eczema/<br>psoriasis; 50 type 1<br>diabetes; 174 non-<br>affected subjects</td><td>Body informations<br>(height, weight, BMI)</td><td>Body-related atti-<br>tudes</td><td>BWD patients: body-<br>related attitudes<br>impacted (strength/<br>fitness↑, salience of<br>weight/shape↓*)</td><td>Moderate</td></tr><tr><td>Lanigan & Cotterill,<br>[130]</td><td>England</td><td>71 (includ-<br>ing about 5<br>adoles-<br>cents)</td><td>Cross-sectional—<br>quantitative (low)</td><td>Questionnaires<br>(GHQ; HADS; OGs)</td><td></td><td>N/A</td><td>PWS characteristics</td><td>General health;<br>Emotional state;<br>Attitudes toward<br>their PWS</td><td>No significant<br>impact of PWS on<br>emotional or psychi-<br>atric state<br>Social difficulties in<br>PWS patients: deal-<br>ing with strangers'<br>reactions; need to<br>hide the mark or<br>treat it; impact on<br>self-confidence;<br>feeling different<br>from others; feeling<br>unattractive</td><td>Moderate</td></tr></tbody></table>
<table><caption>**Table 5 (continued)**</caption><thead><tr><th>Setting</th><th>Location</th><th>N</th><th>Method</th><th>Design</th><th>Tools</th><th>Comparator(s)</th><th>IV(s)</th><th>DV(s)</th><th>Results</th><th>Study quality</th></tr></thead><tbody><tr><td>Augustin et al. [132]</td><td>Germany</td><td>70</td><td>Cross-sectional—<br>quantitative (low)</td><td>Dermatologist's<br>clinical assessment;<br>Questionnaires (SCL-<br>53R; ALLITAG; CSDQ;<br>FKS; OGs)</td><td></td><td>1006 non-affected<br>subjects (extracted<br>from another study)</td><td>Skin-specific coping;<br>impact of PWS;<br>global QoL limita-<br>tions</td><td>Emotional well-<br>being; body image</td><td>PWS patients:<br>emotional well-<br>being↓ (interper-<br>sonal sensitivity***<br>anxiety**, hostility**,<br>phobic anxiety**,<br>paranoid ideation**);<br>body perception↓<br>(attractiveness/self-<br>confidence*); QoL<br>(social relationship*)<br>vs. non-affected<br>subjects</td><td>High</td></tr><tr><td>Ben-Tovim & Walker,<br>[131]</td><td>Australia</td><td>52 (includ-<br>ing about 5<br>adoles-<br>cents)</td><td>Cross-sectional—<br>quantitative (moder-<br>ate)</td><td>Questionnaires<br>(BAQ)</td><td></td><td>49 rheumatoid<br>arthritis; 23 eczema/<br>psoriasis; 50 type 1<br>diabetes; 174 non-<br>affected subjects</td><td>Body informations<br>(height, weight, BMI)</td><td>Body-related atti-<br>tudes</td><td>BWD patients: body-<br>related attitudes<br>impacted (strength/<br>fitness↑*, salience of<br>weight/shape↓*)</td><td>Moderate</td></tr><tr><td>Lanigan & Cotterill,<br>[130]</td><td>England</td><td>71 (includ-<br>ing about 5<br>adoles-<br>cents)</td><td>Cross-sectional—<br>quantitative (low)</td><td>Questionnaires<br>(GHQ; HADS; OGs)</td><td></td><td>N/A</td><td>PWS characteristics</td><td>General health;<br>Emotional state;<br>Attitudes toward<br>their PWS</td><td>No significant<br>impact of PWS on<br>emotional or psychi-<br>atric state<br>Social difficulties in<br>PWS patients: deal-<br>ing with strangers'<br>reactions; need to<br>hide the mark or<br>treat it; impact on<br>self-confidence;<br>feeling different<br>from others; feeling<br>unattractive</td><td>Moderate</td></tr></tbody></table>
<table><caption>**Table 5 (continued)**</caption><thead><tr><th>Setting</th><th>Location</th><th>N</th><th>Method</th><th>Design</th><th>Tools</th><th>Comparator(s)</th><th>IV(s)</th><th>DV(s)</th><th>Results</th><th>Study quality</th></tr></thead><tbody><tr><td>Malm & Carlborg,<br/>[133]</td><td>Sweden</td><td>23</td><td>Exploratory - qualitative (low)</td><td></td><td>Structured interviews</td><td>N/A</td><td>N/A</td><td>N/A</td><td>Patients with Large PWS: dealing with strangers' reactions (emotionally difficult); family as a source of support; childhood's bad experiences; very different coping in social contexts (withdrawal, taunt; humor); mark-hiding techniques (make-up)</td><td>Low</td></tr><tr><td></td><td></td><td></td><td></td><td></td><td></td><td></td><td></td><td></td><td>Patients with Small PWS: mark-hiding techniques (make-up); dealing with strangers' (paranoid anxiety about PWS); exaggerated self-consciousness about the PWS</td><td></td></tr></tbody></table>

All study considered socio-demographic aspects (for example: age; gender; education IV; socio-economic status; profession; etc.)

IV Independent variable: *DV* Dependent variable: *GTM* Grounded theory methodology; *TCA* Thematic content analysis; *PWS* Port-wine-stains; *CTCL* Cutaneous T-cell lymphoma; *BVD* Blood vessel disorders; *MLR* Multiple linear regression; *pop* Population

A → B: A is associated with B; A → B: A predicts B; A↑: A is higher/more important; A↓: A is lower/less important; with: w/; without: w/o; vs.: compared to...

p < 0.05*; p < 0.01**; p < 0.001***
<table><caption>**Table 5 (continued)**</caption><thead><tr><th>Setting</th><th>Location</th><th>N</th><th>Method</th><th>Design</th><th>Tools</th><th>Comparator(s)</th><th>IV(s)</th><th>DV(s)</th><th>Results</th><th>Study quality</th></tr></thead><tbody><tr><td>Malm & Carlborg,<br/>[133]</td><td>Sweden</td><td>23</td><td>Exploratory -qualita-<br/>tive (low)</td><td>Structured inter-<br/>views</td><td>N/A</td><td>N/A</td><td>N/A</td><td>N/A</td><td>Patients with Large<br/>PWS: dealing with<br/>strangers' react-<br/>tions (emotionally<br/>difficult); family as a<br/>source of support;<br/>childhood's bad<br/>experiences; very<br/>different coping<br/>in social contexts<br/>(withdrawal, taunt;<br/>humor); mark-hiding<br/>techniques (make-<br/>up)</td><td>Low</td></tr><tr><td></td><td></td><td></td><td></td><td></td><td></td><td></td><td></td><td></td><td>Patients with Small<br/>PWS: mark-hiding<br/>techniques (make-<br/>up); dealing with<br/>strangers (paranoid<br/>anxiety about<br/>PWS); exaggerated<br/>self-consciousness<br/>about the PWS</td><td></td></tr></tbody></table>

All study considered socio-demographic aspects (for example: age; gender; education IV; socio-economic status; profession; etc.)

IV Independent variable: *DV* Dependent variable: *GTM* Grounded theory methodology; *TCA* Thematic content analysis; *PWS* Port-wine-stains; *CTCL* Cutaneous T-cell lymphoma; *BVD* Blood vessel disorders; *MLR* Multiple linear regression; *pop* Population

A → B: A is associated with B; A → B: A predicts B; A↑: A is higher/more important; A↓: A is lower/less important; with: w/; without: w/o; vs.: compared to...

p < 0.05*; p < 0.01**; p < 0.001***
<table><caption>**Table 6** Summary table of results observed and common to at least two diseases</caption><thead><tr><th colspan="2">Albinism</th><th rowspan="2">NF1</th><th rowspan="2">Ichtyosis</th><th rowspan="2">Birthmarks</th></tr><tr><th>OCA</th><th>HPS</th></tr></thead><tbody><tr><td colspan="5">Vulnerable skin</td></tr><tr><td colspan="5">Discrimination/stigma during childhood and adolescence (teasing, bullying)</td></tr><tr><td colspan="5">Discomfort in social interactions (dealing with strangers' reactions)</td></tr><tr><td colspan="5">Negatively impact QoL and emotional state</td></tr><tr><td colspan="5">Importance of social support (family, friends, patient's community)</td></tr><tr><td colspan="5">Disease severity/visibility associated with impaired QoL and altered body image</td></tr><tr><td colspan="5">Transmission guilt-trip/genetic inheritance concerns</td></tr><tr><td colspan="5">Altered daily life functioning (mobility, skin self-care)</td></tr><tr><td colspan="5">Altered romantic & sex life</td></tr><tr><td colspan="5">Limit academic & professional aspirations</td></tr><tr><td colspan="5">Lack of interest and support from the medical field</td></tr><tr><td colspan="5">Parental distress/investment</td></tr><tr><td colspan="5">Unpredictability of the disease evolution</td></tr><tr><td colspan="5">Wide range of coping strategy</td></tr><tr><td colspan="5">"Abnormality complex"</td></tr><tr><td colspan="5">Society's misconceptions & stereotypes</td></tr><tr><td colspan="5">Pain/uncomfortable body sensation</td></tr></tbody></table>

This last element clearly highlights the need to offer patients biopsychosocial support based on a systemic approach. In view of the main results of this review, the whole family must be considered in patient follow-up, both at a genetic level (genetic inheritance pattern) and at a psychosocial level (psychoeducation, transmission guilt, coping with stigma). As Chaumet said in 2006, "genetic diseases are family affairs". Moreover, caring for patients with genetic diseases is a complex, time-consuming task that requires a holistic approach toward the patient and interdisciplinary support (links between geneticists, specialists in affected organs [such as the skin], and general practitioners). In order to better understand RGSDs, Bronfenbrenner's ecosystemic model (1979) [201] offers, in our opinion, the most appropriate approach for understanding and supporting such diseases. Bronfenbrenner (1979) maintains that the development of a person must be understood within a complex environmental system in which each system

is conceived as a unit communicating with a larger and more organized system. Understanding the functioning of these different systems would therefore allow a better understanding of a patient case and thus promote their well-being. Speaking of a systemic approach, researchers have already proposed a global, cross-cutting framework for health stigma and discrimination. Based on theory, research, and practice, this framework demonstrates its application to a range of health conditions, including leprosy, epilepsy, mental health, cancer, HIV, and obesity/ overweight [202]. It would therefore be very interesting to test it in future research on rare skin conditions, or to propose psychosocial interventions based on their findings. Concerning albinism, some French organizations specialized in sensory disabilities already seem to provide interesting interdisciplinary support to young PWA. For example, Assistance Services for Autonomy Acquisition and Schooling (in French: Service d'Aide à l'Acquisition de l'Autonomie et à la Scolarisation) and Early Medical
<table><caption>**Table 6** Summary table of results observed and common to at least two diseases</caption><thead><tr><th colspan="2">Albinism</th><th rowspan="2">NF1</th><th rowspan="2">Ichtyosis</th><th rowspan="2">Birthmarks</th></tr><tr><th>OCA</th><th>HPS</th></tr></thead><tbody><tr><td colspan="5">Vulnerable skin</td></tr><tr><td colspan="5">Discrimination/stigma during childhood and adolescence (teasing, bullying)</td></tr><tr><td colspan="5">Discomfort in social interactions (dealing with strangers' reactions)</td></tr><tr><td colspan="5">Negatively impact QoL and emotional state</td></tr><tr><td colspan="5">Importance of social support (family, friends, patient's community)</td></tr><tr><td colspan="5">Disease severity/visibility associated with impaired QoL and altered body image</td></tr><tr><td colspan="5">Transmission guilt-trip/genetic inheritance concerns</td></tr><tr><td colspan="5">Altered daily life functioning (mobility, skin self-care)</td></tr><tr><td colspan="5">Altered romantic & sex life</td></tr><tr><td colspan="5">Limit academic & professional aspirations</td></tr><tr><td colspan="5">Lack of interest and support from the medical field</td></tr><tr><td colspan="5">Parental distress/investment</td></tr><tr><td colspan="5">Unpredictability of the disease evolution</td></tr><tr><td colspan="5">Wide range of coping strategy</td></tr><tr><td colspan="5">“Abnormality complex”</td></tr><tr><td colspan="5">Society's misconceptions & stereotypes</td></tr><tr><td colspan="5">Pain/uncomfortable body sensation</td></tr></tbody></table>

This last element clearly highlights the need to offer patients biopsychosocial support based on a systemic approach. In view of the main results of this review, the whole family must be considered in patient follow-up, both at a genetic level (genetic inheritance pattern) and at a psychosocial level (psychoeducation, transmission guilt, coping with stigma). As Chaumet said in 2006, "genetic diseases are family affairs". Moreover, caring for patients with genetic diseases is a complex, time-consuming task that requires a holistic approach toward the patient and interdisciplinary support (links between geneticists, specialists in affected organs [such as the skin], and general practitioners). In order to better understand RGSDs, Bronfenbrenner's ecosystemic model (1979) [201] offers, in our opinion, the most appropriate approach for understanding and supporting such diseases. Bronfenbrenner (1979) maintains that the development of a person must be understood within a complex environmental system in which each system

is conceived as a unit communicating with a larger and more organized system. Understanding the functioning of these different systems would therefore allow a better understanding of a patient case and thus promote their well-being. Speaking of a systemic approach, researchers have already proposed a global, cross-cutting framework for health stigma and discrimination. Based on theory, research, and practice, this framework demonstrates its application to a range of health conditions, including leprosy, epilepsy, mental health, cancer, HIV, and obesity/ overweight [202]. It would therefore be very interesting to test it in future research on rare skin conditions, or to propose psychosocial interventions based on their findings. Concerning albinism, some French organizations specialized in sensory disabilities already seem to provide interesting interdisciplinary support to young PWA. For example, Assistance Services for Autonomy Acquisition and Schooling (in French: Service d'Aide à l'Acquisition de l'Autonomie et à la Scolarisation) and Early Medical
and Social Action Centers (in French: Centres d'Action Médico-Sociale Précoce) work with many actors in order to help families concerned by albinism (or any other ophthalmologic genetic disease); health professionals are increasingly trained in systemic approaches and tend to approach care with transdisciplinarity [203, 204]. It would be judicious to see to what extent related medical, educational, and social establishments (Specialized Education and Home-Care Services; in French: Service d'Éducation Spéciale et de Soins à Domicile) could support families concerned by RGSD.

Finally, it is still essential to keep investigating the experiences of these populations, given the lack of evidence on these health issues in many countries. In order to compensate for sample size issues and to have more robust studies designs, it would be wise to set up longitudinal lifespan studies to see the possible developmental pathways in these diseases more precisely, and which factors would favour one pathway or another. In addition, action research or intervention-based studies could also be considered (prevention in schools, consultation/therapy for parents, etc.) and allow the implementation of direct and beneficial interventions for patients and their families.

## Conclusion

Despite the heterogeneity and methodological weaknesses of the studies we have investigated, this review has shed useful light on the psychosocial consequences of RGSDs on affected people and their families. In addition, the care pathway remains complex and tedious, and the professionals involved are few. Although new care systems are slowly being put in place in some institutes, access to adapted care remains limited and unequally distributed across countries. It would therefore be relevant to mobilize public policies in order to give more resources to associations and medico-socio educational centers that already support concerned families. As we have seen above, a systemic approach to the patient, considering all aspects of their life and environment (family, school, work, activities of daily living, etc.) would be the most optimal way to deal with these conditions.

## Abbreviations

<table><tr><td>DoK</td><td>Disorders of keratinisation</td></tr><tr><td>HPS</td><td>Hermansly-Pudlak syndrome</td></tr><tr><td>NF1</td><td>Neurofibromatosis type 1</td></tr><tr><td>PNf</td><td>Plexiform neurofibroma</td></tr><tr><td>PWA</td><td>People with albinism</td></tr><tr><td>PWS</td><td>Port-wine-stains</td></tr><tr><td>QoL</td><td>Quality of life</td></tr><tr><td>RGSD</td><td>Rare genetic skin disease</td></tr><tr><td>TPE</td><td>Therapeutic patient education</td></tr></table>

## Supplementary Information

The online version contains supplementary material available at https://doi.org/10.1186/s13023-023-02629-1.

Additional file 1: Evaluation grid for qualitative exploratory studies.

## Acknowledgements

We would like to thank Victoria Andrews for her help in finalizing the article in English. We would also like to thank Diana Arshakyan for her help in processing some of the article data after the screening phase.

## Author contributions

The first author, HF, was the principal investigator of the review: he defined the initial question, the methodology, collected the essential data, and wrote and revised the manuscript. The last author, BQ, monitored, advised, and revised HF's work throughout the review process. The second author, NC, reviewed one third of the articles selected after screening the titles and abstracts. The third author and medical geneticist, FMP, helped identify the genetic diseases of interest to the review. Finally, all authors held meetings at each stage of the research so that each data was cross-checked, and each review decision was made collectively. All authors read and approved the final manuscript.

## Funding

The review work and the writing of this article were financed by the French Rare Diseases Foundation (Fondation des Maladies Rares). The cost of publication was entirely covered by BQ's professional funds.

## Availability of data and materials

Not applicable.

## Declarations

### Ethics approval and consent to participate

No new human data is used in this review and therefore no ethics approval is applicable.

### Consent for publication

Not applicable as only data from the selected articles were used in this paper. The authors declare that they did not have access to any personal data for this review.

### Competing interests

The author declares that he has no competing interests.

### Author details

¹Laboratoire de Psychologie (LabPsy) EA4139, Univ. Bordeaux, 3 ter Place de la Victoire, Bâtiment A - 1er étage, 33000 Bordeaux, France. ²CHU Bordeaux, 33404 Bordeaux, France.

Received: 29 July 2022 Accepted: 6 February 2023

Published online: 23 February 2023

## References

1. Boucand MH. Une approche éthique des maladies rares génétiques: Enjeux de reconnaissance et de compétence. Eres. 2018;357.

2. Heuyer T, Pavan S, Vicard C. The health and life path of rare disease patients: results of the 2015 French barometer. PROM. 2017;8:97–110. https://doi.org/10.2147/PROM.S131033.

3. Kole A, Faurisson F. The voice of 12,000 patients: experiences and expectations of rare disease patients on diagnosis and care in Europe. 2009. http://download2.eurordis.org.s3.amazonaws.com/the-voice-of-rare-disease-patients.pdf. Accessed 1 Nov 2021.

4. Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, et al. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014;27(1):11–8. https://doi.org/10.1111/pcmr.12167.
and Social Action Centers (in French: Centres d'Action Médico-Sociale Précoce) work with many actors in order to help families concerned by albinism (or any other ophthalmologic genetic disease); health professionals are increasingly trained in systemic approaches and tend to approach care with transdisciplinarity [203, 204]. It would be judicious to see to what extent related medical, educational, and social establishments (Specialized Education and Home-Care Services; in French: Service d'Éducation Spéciale et de Soins à Domicile) could support families concerned by RGSD.

Finally, it is still essential to keep investigating the experiences of these populations, given the lack of evidence on these health issues in many countries. In order to compensate for sample size issues and to have more robust studies designs, it would be wise to set up longitudinal lifespan studies to see the possible developmental pathways in these diseases more precisely, and which factors would favour one pathway or another. In addition, action research or intervention-based studies could also be considered (prevention in schools, consultation/therapy for parents, etc.) and allow the implementation of direct and beneficial interventions for patients and their families.

## Conclusion

Despite the heterogeneity and methodological weaknesses of the studies we have investigated, this review has shed useful light on the psychosocial consequences of RGSDs on affected people and their families. In addition, the care pathway remains complex and tedious, and the professionals involved are few. Although new care systems are slowly being put in place in some institutes, access to adapted care remains limited and unequally distributed across countries. It would therefore be relevant to mobilize public policies in order to give more resources to associations and medico-socio educational centers that already support concerned families. As we have seen above, a systemic approach to the patient, considering all aspects of their life and environment (family, school, work, activities of daily living, etc.) would be the most optimal way to deal with these conditions.

## Abbreviations

<table><tr><td>DoK</td><td>Disorders of keratinisation</td></tr><tr><td>HPS</td><td>Hermansly-Pudlak syndrome</td></tr><tr><td>NF1</td><td>Neurofibromatosis type 1</td></tr><tr><td>PNf</td><td>Plexiform neurofibroma</td></tr><tr><td>PWA</td><td>People with albinism</td></tr><tr><td>PWS</td><td>Port-wine-stains</td></tr><tr><td>QoL</td><td>Quality of life</td></tr><tr><td>RGSD</td><td>Rare genetic skin disease</td></tr><tr><td>TPE</td><td>Therapeutic patient education</td></tr></table>

## Supplementary Information

The online version contains supplementary material available at https://doi.org/10.1186/s13023-023-02629-1.

Additional file 1: Evaluation grid for qualitative exploratory studies.

## Acknowledgements

We would like to thank Victoria Andrews for her help in finalizing the article in English. We would also like to thank Diana Arshakyan for her help in processing some of the article data after the screening phase.

## Author contributions

The first author, HF, was the principal investigator of the review: he defined the initial question, the methodology, collected the essential data, and wrote and revised the manuscript. The last author, BQ, monitored, advised, and revised HF's work throughout the review process. The second author, NC, reviewed one third of the articles selected after screening the titles and abstracts. The third author and medical geneticist, FMP, helped identify the genetic diseases of interest to the review. Finally, all authors held meetings at each stage of the research so that each data was cross-checked, and each review decision was made collectively. All authors read and approved the final manuscript.

## Funding

The review work and the writing of this article were financed by the French Rare Diseases Foundation (Fondation des Maladies Rares). The cost of publication was entirely covered by BQ's professional funds.

## Availability of data and materials

Not applicable.

## Declarations

### Ethics approval and consent to participate

No new human data is used in this review and therefore no ethics approval is applicable.

### Consent for publication

Not applicable as only data from the selected articles were used in this paper. The authors declare that they did not have access to any personal data for this review.

### Competing interests

The author declares that he has no competing interests.

### Author details

¹Laboratoire de Psychologie (LabPsy) EA4139, Univ. Bordeaux, 3 ter Place de la Victoire, Bâtiment A - 1er étage, 33000 Bordeaux, France. ²CHU Bordeaux, 33404 Bordeaux, France.

Received: 29 July 2022 Accepted: 6 February 2023

Published online: 23 February 2023

## References

1. Boucand MH. Une approche éthique des maladies rares génétiques: Enjeux de reconnaissance et de compétence. Eres. 2018;357.

2. Heuyer T, Pavan S, Vicard C. The health and life path of rare disease patients: results of the 2015 French barometer. PROM. 2017;8:97–110. https://doi.org/10.2147/PROM.S131033.

3. Kole A, Faurisson F. The voice of 12,000 patients: experiences and expectations of rare disease patients on diagnosis and care in Europe. 2009. http://download2.eurordis.org.s3.amazonaws.com/the-voice-of-rare-disease-patients.pdf. Accessed 1 Nov 2021.

4. Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, et al. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014;27(1):11–8. https://doi.org/10.1111/pcmr.12167.
5. Grønskov K, Dooley CM, Østergaard E, Kelsh RN, Hansen L, Levesque MP, et al. Mutations in C10orf11, a Melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013;92(3):415-21. https://doi.org/10.1016/j.ajhg.2013.01.006.

6. Wei AH, Zang DJ, Zhang Z, Liu XZ, He X, Yang L, et al. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013;133(7):1834-40. https://doi.org/10.1038/jid.2013.49.

7. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet. 2001;69(5):981-8. https://doi.org/10.1086/324340.

8. Barbosa MDFS, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, et al. Identification of mutations in two major mRNA isoforms of the chediak-higashi syndrome gene in human and mouse. Hum Mol Genet. 1997;6(7):1091-8. https://doi.org/10.1093/hmg/6.7.1091.

9. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996;14(3):300-6. https://doi.org/10.1038/ng1196-300.

10. Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, et al. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as « OCA3 ». Am J Hum Genet. 1996;58(6):1145-56.

11. King RA, Witkop CJ. Hairbulb tyrosinase activity in oculocutaneous albinism. Nature. 1976;263(5572):69-71. https://doi.org/10.1038/26309a0.

12. Estrada-Hernández N, Harper DC. Research on psychological and personal aspects of albinism: a critical review. Rehabil Psychol. 2007;52(3):263-71. https://doi.org/10.1037/0090-5550.52.3.263.

13. Kajiru I, Nyimbi I. The impact of myths, superstition and harmful cultural beliefs against albinism in Tanzania: a human rights perspective. Potchefstroom Electron Law J. 2020;23:1-27. https://doi.org/10.17159/1727-3781/2020/V2310A8793.

14. Austin CL. Steps toward acceptance: my journey as a woman with albinism and implications for practice. J Vis Impair Blind. 2018;112(6):713-5. https://doi.org/10.1177/0145482X1811200606.

15. Gold ME, He H. A journey of success: an african american woman with oculocutaneous albinism. J Vis Impair Blind. 2018;112(6):772-6. https://doi.org/10.1177/0145482X1811200613.

16. Mswela M. Does albinism fit within the legal definition of disability in the employment context? A comparative analysis of the judicial interpretation of disability under the SA and the US non-discrimination laws. Potchefstroom Electron Law J. 2018;21:1-37.

17. Ndlovu I. Writing in and about prison, childhood albinism and human temporality in the book of memory. J Lit Stud. 2018;34(4):33-47. https://doi.org/10.1080/02564718.2018.1538077.

18. Imafidon E. Dealing with the other between the ethical and the moral: albinism on the African continent. Theor Med Bioeth. 2017;38(2):163-77. https://doi.org/10.1007/s11017-017-9403-2.

19. Brocco G. Albinism, stigma, subjectivity and global-local discourses in Tanzania. Anthropol Med. 2016;23(3):229-43. https://doi.org/10.1080/13648470.2016.1184009.

20. Brocco G. Labeling albinism: language and discourse surrounding people with albinism in Tanzania. Disabil Soc. 2015;30(8):1143-57. https://doi.org/10.1080/09687599.2015.1075869.

21. Uromi SM. Violence against persons with albinism and older women: tackling withcraft accusation in Tanzania. Int J Educ Res. 2014;2(6):323-38.

22. Tanner R. Ideology and the killing of albinos in Tanzania: a study in cultural relativities. Anthropologist. 2010;12(4):229-36. https://doi.org/10.1080/09720073.2010.11891161.

23. Corn AL, Lusk KE. An analysis of parents' reports on educational services for their children with albinism. J Vis Impair Blind. 2018;112(6):667-82. https://doi.org/10.1177/0145482X1811200603.

24. Corn AL, Lusk KE. Reports from parents about medical and low vision services for their children with albinism: an analysis. J Vis Impair Blind. 2018;112(6):655-66. https://doi.org/10.1177/0145482X1811200602.

25. Lund PM, Gaigher R. A health intervention programme for children with albinism at a special school in South Africa. Health Educ Res. 2002;17(3):365-72. https://doi.org/10.1093/her/17.3.365.

26. Lund PM. Health and education of children with albinism in Zimbabwe. Health Educ Res. 2001;16(1):1-7. https://doi.org/10.1093/her/16.1.1.

27. Ashley JR, Cates D.L. Albinism: educational techniques for parents and teachers. Rev Rehab Educ Blind Vis Impair. 1992;24(3):127-32.

28. De Groot T, Meurs P, Jacquet W. The effect of contact interventions on the stigma of people with albinism in Tanzania. J Vis Impair Blind. 2019;113(5):464-9. https://doi.org/10.1177/0145482X19874188.

29. Vander Kolk CJ, Bright BC. Albinism: a survey of attitudes and behavior. J Vis Impair Blind. 1983;77(2):49-51. https://doi.org/10.1177/0145482x8307700201.

30. Palmer C. Myths, stereotypes and self-perception: the impact of albinism on self-esteem. Br J Vis Impair. 2007;25(2):144-54. https://doi.org/10.1177/0264619607075998.

31. Estrada-Hernandez N. Psychosocial aspects of physical difference: the experiences of eight adults with albinism in Puerto Rico. J Vis Impair Blind. 2018;112(6):701-12. https://doi.org/10.1177/0145482X1811200605.

32. Tambala-Kaliati T, Adomako EB, Frimpong-Manso K. Living with albinism in an African community: exploring the challenges of persons with albinism in Lilongwe District, Malawi. Heliyon. 2021. https://doi.org/10.1016/j.heliyon.2021.e07034.

33. Phatoli R, Bila N, Ross E. Being black in a white skin: Beliefs and stereotypes around albinism at a South African university. Afr J Disabil. 2015;4(1):106. https://doi.org/10.4102/ajod.v4i1.106.

34. Ojedokun IM. Effects of stigmatisation on psychosocial and health well-being of people living with albinism in south-west Nigeria. Afr J Soc Work. 2018;8(1):31-8.

35. Maia M, Volpini BMF, dos Santos GA, Rujula MJP. Quality of life in patients with oculocutaneous albinism. An Bras Dermatol. 2015;90(4):513-7. https://doi.org/10.1590/abd1806-4841.20153498.

36. Ajose FOA, Parker RA, Merrall ELC, Adewuya AO, Zachariah MP. Quantification and comparison of psychiatric distress in African patients with albinism and vitiligo: a 5-year prospective study. J Eur Acad Dermatol Venereol. 2014;28(7):925-32. https://doi.org/10.1111/jdv.12216.

37. Anshelevich EE, Mosojane KI, Kenosi L, Nkomazana O, Williams VL. Factors affecting quality of life for people living with albinism in Botswana. Dermatol Clin. 2021;39(1):129-45. https://doi.org/10.1016/j det.2020.08.012.

38. Dapi LN, Tambe BA, Monebenimp F. Myths surrounding albinism and struggles of persons with albinism to achieve human rights in Yaoundé. Cameroon J Hum Rights Soc Work. 2018;3(1):11-6. https://doi.org/10.1007/s41134-018-0048-5.

39. Christensen S, Wagner L, Coleman MM, Appell D. The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome. Chronic Illn. 2017;13(1):62-72. https://doi.org/10.1177/1742395316655854.

40. Poee-Monyemore MBJ, Mavundla TR, Christianson AL. The experience of people with oculocutaneous albinism. Health SA Gesondheid. 2012. https://doi.org/10.4102/hsag.v17i1.592.

41. Aborisade RA. "Why always me?": Childhood experiences of family violence and prejudicial treatment against people living with albinism in Nigeria. J Fam Viol. 2021;36(8):1081-94. https://doi.org/10.1007/s10896-021-00264-7.

42. Huang M, Chen L, Hung S, Puthussery S. Women's experiences of living with albinism in Taiwan and perspectives on reproductive decision making: a qualitative study. Disabil Soc. 2020;37(6):916-32. https://doi.org/10.1080/09687599.2020.1867071.

43. Chu B, Maranga A, Mosojane KI, Allen-Taylor L, Ralethaka M, Ngubula JC, et al. Sociodemographic features of a cohort of people living with albinism in Botswana. JAAD Int. 2021;2:153-63. https://doi.org/10.1016/j.jdin.2020.12.002.

44. Affram AA, Teye-Kwadjo E, Gyasi-Gyamerah AA. Influence of social stigma on subjective well-being of persons with albinism in Ghana. J Community Appl Soc Psychol. 2019;29(4):323-35. https://doi.org/10.1002/casp.2403.
5. Grønskov K, Dooley CM, Østergaard E, Kelsh RN, Hansen L, Levesque MP, et al. Mutations in C10orf11, a Melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013;92(3):415-21. https://doi.org/10.1016/j.ajhg.2013.01.006.

6. Wei AH, Zang DJ, Zhang Z, Liu XZ, He X, Yang L, et al. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013;133(7):1834-40. https://doi.org/10.1038/jid.2013.49.

7. Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, et al. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet. 2001;69(5):981-8. https://doi.org/10.1086/324340.

8. Barbosa MDFS, Barrat FJ, Tchernev VT, Nguyen QA, Mishra VS, Colman SD, et al. Identification of mutations in two major mRNA isoforms of the chediak-higashi syndrome gene in human and mouse. Hum Mol Genet. 1997;6(7):1091-8. https://doi.org/10.1093/hmg/6.7.1091.

9. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao J, et al. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996;14(3):300-6. https://doi.org/10.1038/ng1196-300.

10. Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, et al. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as « OCA3 ». Am J Hum Genet. 1996;58(6):1145-56.

11. King RA, Witkop CJ. Hairbulb tyrosinase activity in oculocutaneous albinism. Nature. 1976;263(5572):69-71. https://doi.org/10.1038/26309a0.

12. Estrada-Hernández N, Harper DC. Research on psychological and personal aspects of albinism: a critical review. Rehabil Psychol. 2007;52(3):263-71. https://doi.org/10.1037/0090-5550.52.3.263.

13. Kajiru I, Nyimbi I. The impact of myths, superstition and harmful cultural beliefs against albinism in Tanzania: a human rights perspective. Potchefstroom Electron Law J. 2020;23:1-27. https://doi.org/10.17159/1727-3781/2020/V2310A8793.

14. Austin CL. Steps toward acceptance: my journey as a woman with albinism and implications for practice. J Vis Impair Blind. 2018;112(6):713-5. https://doi.org/10.1177/0145482X1811200606.

15. Gold ME, He H. A journey of success: an african american woman with oculocutaneous albinism. J Vis Impair Blind. 2018;112(6):772-6. https://doi.org/10.1177/0145482X1811200613.

16. Mswela M. Does albinism fit within the legal definition of disability in the employment context? A comparative analysis of the judicial interpretation of disability under the SA and the US non-discrimination laws. Potchefstroom Electron Law J. 2018;21:1-37.

17. Ndlovu I. Writing in and about prison, childhood albinism and human temporality in the book of memory. J Lit Stud. 2018;34(4):33-47. https://doi.org/10.1080/02564718.2018.1538077.

18. Imafidon E. Dealing with the other between the ethical and the moral: albinism on the African continent. Theor Med Bioeth. 2017;38(2):163-77. https://doi.org/10.1007/s11017-017-9403-2.

19. Brocco G. Albinism, stigma, subjectivity and global-local discourses in Tanzania. Anthropol Med. 2016;23(3):229-43. https://doi.org/10.1080/13648470.2016.1184009.

20. Brocco G. Labeling albinism: language and discourse surrounding people with albinism in Tanzania. Disabil Soc. 2015;30(8):1143-57. https://doi.org/10.1080/09687599.2015.1075869.

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46. Orphanet: the portal for rare diseases and orphan drugs|Neurofibromatosis type 1. (2014). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=636&lng=EN. Accessed 2 Nov 2021.

47. Cutting LE, Clements AM, Lightman AD, Yerby-Hammack PD, Denckla MB. Cognitive profile of neurofibromatosis Type 1: rethinking nonverbal learning disabilities. Learn Disabil Res Pract. 2004;19(3):155-65. https://doi.org/10.1111/j.1540-5826.2004.00099.x.

48. Barton B, North K. Social skills of children with neurofibromatosis type I. Dev Med Child Neurol. 2004;46(8):553-63. https://doi.org/10.1017/s0012162204000921.

49. Barton B, North K. The self-concept of children and adolescents with neurofibromatosis type 1. Child Care Health Dev. 2007;33(4):401-8. https://doi.org/10.1111/j.1365-2214.2006.00717.x.

50. Johnson H, Wiggs L, Stores G, Huson SM. Psychological disturbance and sleep disorders in children with neurofibromatosis type 1. Dev Med Child Neurol. 2005;47(4):237-42. https://doi.org/10.1111/j.1469-8749.2005.tb01128.x.

51. Noll RB, Reiter-Purtill J, Moore BD, Schorry EK, Lovell AM, Vannatta K, et al. Social, emotional, and behavioral functioning of children with NF1. Am J Med Genet A. 2007;143A(19):2261-73. https://doi.org/10.1002/ajmg.a.31923.

52. Krab LC, Oostenbrink R, de Goede-Bolder A, Aarsen FK, Elgersma Y, Moll HA. Health-related quality of life in children with neurofibromatosis type 1: contribution of demographic factors, disease-related factors, and behavior. J Pediatr. 2009;154(3):420-5. https://doi.org/10.1016/j.jpeds.2008.08.045.

53. Huijbregts SCJ, de Sonneville LMJ. Does cognitive impairment explain behavioral and social problems of children with neurofibromatosis type 1? Behav Genet. 2011;41(3):430-6. https://doi.org/10.1007/s10519-010-9430-5.

54. Huijbregts S, Jahja R, De Sonneville L, De Breij S, Swaab-Barneveld H. Social information processing in children and adolescents with neurofibromatosis type 1. Dev Med Child Neurol. 2010;52(7):620-5. https://doi.org/10.1111/j.1469-8749.2010.03639.x.

55. Pasini A, Lo-Castro A, Di Carlo L, Pitzianti M, Siracusano M, Rosa C, et al. Detecting anxiety symptoms in children and youths with neurofibromatosis type I. Am J Med Genet B Neuropsychiatr Genet. 2012;159B(7):869-73. https://doi.org/10.1002/ajmg.b.32095.

56. Lehtonen A, Howie E, Trump D, Huson SM. Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence. Dev Med Child Neurol. 2013;55(2):111-25. https://doi.org/10.1111/j.1469-8749.2012.04399.x.

57. Brei NG, Klein-Tasman BP, Schwarz GN, Casnar CL. Language in young children with neurofibromatosis-1: relations to functional communication, attention, and social functioning. Res Dev Disabil. 2014;35(10):2495-504. https://doi.org/10.1016/j.ridd.2014.06.016.

58. Holland AA, Stavinoha PL, Swearer SM, Solesbee C, Patel S, Klesse LJ. Rate and frequency of bullying victimization in school-age children with neurofibromatosis type 1 (NF1). Sch Psychol. 2019;34(6):687-94. https://doi.org/10.1037/spq0000333.

59. Sebold CD, Lovell A, Hopkin R, Noll R, Schorry E. Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1. J Adolesc Health. 2004;35(4):297-302. https://doi.org/10.1016/j.jadohhealth.2003.10.003.

60. Michaud PA, Suris JC, Viner R. The adolescent with a chronic condition. Part II: healthcare provision. Arch Dis Child. 2004;89(10):943-9. https://doi.org/10.1136/adc.2003.045377.

61. Wolkenstein P, Rodriguez D, Fernal S, Gravier H, Buret V, Algans N, et al. Impact of neurofibromatosis 1 upon quality of life in childhood: a cross-sectional study of 79 cases. Br J Dermatol. 2009;160(4):844-8. https://doi.org/10.1111/j.1365-2133.2008.08949.x.

62. Prior J, O'Dell L. 'Coping quite well with a few difficult bits': living with disfigurement in early adolescence. J Health Psychol. 2009;14(6):731-40. https://doi.org/10.1177/1359105309338972.

63. Williamson H, Harcourt D, Halliwell E, Frith H, Wallace M. Adolescents' and parents' experiences of managing the psychosocial impact of

appearance change during cancer treatment. J Pediatr Oncol Nurs. 2010;27(3):168-75. https://doi.org/10.1177/1043454209357923.

64. Esposito M, Marotta R, Roccella M, Gallai B, Parisi L, Lavano SM, et al. Pediatric neurofibromatosis 1 and parental stress: a multicenter study. Neuropsychiatr Dis Treat. 2014;10:141-6. https://doi.org/10.2147/NDT.S55518.

65. Martin S, Wolters PL, Baldwin A, Roderick MC, Toledo-Tamula MA, Gillespie A, et al. Attitudes about internet support groups among adolescents and young adults with neurofibromatosis type 1 and their parents. J Genet Couns. 2014;23(5):796-804. https://doi.org/10.1007/s10897-014-9688-5.

66. Barke J, Coad J, Harcourt D. Parents' experiences of caring for a young person with neurofibromatosis type 1 (NF1): a qualitative study. J Community Genet. 2016;7(1):33-9. https://doi.org/10.1007/s12687-015-0247-z.

67. Akre C, Polvinen J, Ullrich NJ, Rich M. Children's at home: pilot study assessing dedicated social media for parents of adolescents with neurofibromatosis type 1. J Genet Couns. 2018;27(2):505-17. https://doi.org/10.1007/s10897-018-0213-0.

68. Morotti H, Mastel S, Keller K, Barnard RA, Hall T, O'Roak BJ, et al. Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1. Dev Med Child Neurol. 2021;63(2):226-32. https://doi.org/10.1111/dmcn.14558.

69. Payne JM, Walsh KS, Pride NA, Haebich KM, Maier A, Chisholm A, et al. Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes. Dev Med Child Neurol. 2020;62(7):813-9. https://doi.org/10.1111/dmcn.14517.

70. Eijk S, Mous SE, Dieleman GC, Dierckx B, Rietman AB, de Nijs PFA, et al. Autism spectrum disorder in an unselected cohort of children with neurofibromatosis type 1 (NF1). J Autism Dev Disord. 2018;48(7):2278-85. https://doi.org/10.1007/s10803-018-3478-0.

71. Bilder DA, Bakian AV, Stevenson DA, Carbone PS, Cunniff C, Goodman AB, et al. Brief report: The prevalence of neurofibromatosis type 1 among children with autism spectrum disorder identified by the Autism and Developmental Disabilities Monitoring Network. J Autism Dev Disord. 2016;46(10):3369-76. https://doi.org/10.1007/s10803-016-2877-3.

72. Morris SM, Acosta MT, Garg S, Green J, Huson S, Legius E, et al. Disease burden and symptom structure of autism in neurofibromatosis type 1: a study of the International NF1-ASD Consortium Team (INFACT). JAMA Psychiatr. 2016;73(12):1276-84. https://doi.org/10.1001/jamapsychiatry.2016.2600.

73. Garg S, Heuvelman H, Huson S, Tobin H, Green J. Sex bias in autism spectrum disorder in neurofibromatosis type 1. J Neurodev Disord. 2016. https://doi.org/10.1186/s11689-016-9159-4.

74. Garg S, Plasschaert E, Descheemaeker MJ, Huson S, Borghraef M, Vogels A, et al. Autism spectrum disorder profile in neurofibromatosis type I. J Autism Dev Disord. 2015;45(6):1649-57. https://doi.org/10.1007/s10803-014-2321-5.

75. Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, et al. Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study. Dev Med Child Neurol. 2013;55(2):139-45. https://doi.org/10.1111/dmcn.12043.

76. Plasschaert E, Van Eylen L, Descheemaeker M, Noens I, Legius E, Steyaert J. Executive functioning deficits in children with neurofibromatosis type 1: the influence of intellectual and social functioning. Am J Med Genet B Neuropsychiatr Genet. 2016;171(3):348-62. https://doi.org/10.1002/ajmg.b.32414.

77. Plasschaert E, Descheemaeker MJ, Van Eylen L, Noens I, Steyaert J, Legius E. Prevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet. 2015;168(1):72-80. https://doi.org/10.1002/ajmg.b.32280.

78. Koth CW, Cutting LE, Denckla MB. The association of neurofibromatosis type 1 and attention deficit hyperactivity disorder. Child Neuropsychol. 2000;6(3):185-94. https://doi.org/10.1076/chin.6.3.185.3155.

79. Klein-Tasman BP, Janke KM, Luo W, Casnar CL, Hunter SJ, Tonsgard J, et al. Cognitive and psychosocial phenotype of young children with neurofibromatosis-1. J Int Neuropsychol Soc. 2014;20(1):88-98. https://doi.org/10.1017/S1355617713001227.
45. Attama CM, Uwakwe R, Onyeama GM, Igwe MN. Psychiatric morbidity among subjects with leprosy and albinism in South East Nigeria: a comparative study. Ann Med Health Sci Res. 2015;5(3):197-204. https://doi.org/10.4103/2141-9248.157503.

46. Orphanet: the portal for rare diseases and orphan drugs|Neurofibromatosis type 1. (2014). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=636&lng=EN. Accessed 2 Nov 2021.

47. Cutting LE, Clements AM, Lightman AD, Yerby-Hammack PD, Denckla MB. Cognitive profile of neurofibromatosis Type 1: rethinking nonverbal learning disabilities. Learn Disabil Res Pract. 2004;19(3):155-65. https://doi.org/10.1111/j.1540-5826.2004.00099.x.

48. Barton B, North K. Social skills of children with neurofibromatosis type I. Dev Med Child Neurol. 2004;46(8):553-63. https://doi.org/10.1017/s0012162204000921.

49. Barton B, North K. The self-concept of children and adolescents with neurofibromatosis type 1. Child Care Health Dev. 2007;33(4):401-8. https://doi.org/10.1111/j.1365-2214.2006.00717.x.

50. Johnson H, Wiggs L, Stores G, Huson SM. Psychological disturbance and sleep disorders in children with neurofibromatosis type 1. Dev Med Child Neurol. 2005;47(4):237-42. https://doi.org/10.1111/j.1469-8749.2005.tb01128.x.

51. Noll RB, Reiter-Purtill J, Moore BD, Schorry EK, Lovell AM, Vannatta K, et al. Social, emotional, and behavioral functioning of children with NF1. Am J Med Genet A. 2007;143A(19):2261-73. https://doi.org/10.1002/ajmg.a.31923.

52. Krab LC, Oostenbrink R, de Goede-Bolder A, Aarsen FK, Elgersma Y, Moll HA. Health-related quality of life in children with neurofibromatosis type 1: contribution of demographic factors, disease-related factors, and behavior. J Pediatr. 2009;154(3):420-5. https://doi.org/10.1016/j.jpeds.2008.08.045.

53. Huijbregts SCJ, de Sonneville LMJ. Does cognitive impairment explain behavioral and social problems of children with neurofibromatosis type 1? Behav Genet. 2011;41(3):430-6. https://doi.org/10.1007/s10519-010-9430-5.

54. Huijbregts S, Jahja R, De Sonneville L, De Breij S, Swaab-Barneveld H. Social information processing in children and adolescents with neurofibromatosis type 1. Dev Med Child Neurol. 2010;52(7):620-5. https://doi.org/10.1111/j.1469-8749.2010.03639.x.

55. Pasini A, Lo-Castro A, Di Carlo L, Pitzianti M, Siracusano M, Rosa C, et al. Detecting anxiety symptoms in children and youths with neurofibromatosis type I. Am J Med Genet B Neuropsychiatr Genet. 2012;159B(7):869-73. https://doi.org/10.1002/ajmg.b.32095.

56. Lehtonen A, Howie E, Trump D, Huson SM. Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence. Dev Med Child Neurol. 2013;55(2):111-25. https://doi.org/10.1111/j.1469-8749.2012.04399.x.

57. Brei NG, Klein-Tasman BP, Schwarz GN, Casnar CL. Language in young children with neurofibromatosis-1: relations to functional communication, attention, and social functioning. Res Dev Disabil. 2014;35(10):2495-504. https://doi.org/10.1016/j.ridd.2014.06.016.

58. Holland AA, Stavinoha PL, Swearer SM, Solesbee C, Patel S, Klesse LJ. Rate and frequency of bullying victimization in school-age children with neurofibromatosis type 1 (NF1). Sch Psychol. 2019;34(6):687-94. https://doi.org/10.1037/spq0000333.

59. Sebold CD, Lovell A, Hopkin R, Noll R, Schorry E. Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1. J Adolesc Health. 2004;35(4):297-302. https://doi.org/10.1016/j.jadohhealth.2003.10.003.

60. Michaud PA, Suris JC, Viner R. The adolescent with a chronic condition. Part II: healthcare provision. Arch Dis Child. 2004;89(10):943-9. https://doi.org/10.1136/adc.2003.045377.

61. Wolkenstein P, Rodriguez D, Fernal S, Gravier H, Buret V, Algans N, et al. Impact of neurofibromatosis 1 upon quality of life in childhood: a cross-sectional study of 79 cases. Br J Dermatol. 2009;160(4):844-8. https://doi.org/10.1111/j.1365-2133.2008.08949.x.

62. Prior J, O'Dell L. 'Coping quite well with a few difficult bits': living with disfigurement in early adolescence. J Health Psychol. 2009;14(6):731-40. https://doi.org/10.1177/1359105309338972.

63. Williamson H, Harcourt D, Halliwell E, Frith H, Wallace M. Adolescents' and parents' experiences of managing the psychosocial impact of

appearance change during cancer treatment. J Pediatr Oncol Nurs. 2010;27(3):168-75. https://doi.org/10.1177/1043454209357923.

64. Esposito M, Marotta R, Roccella M, Gallai B, Parisi L, Lavano SM, et al. Pediatric neurofibromatosis 1 and parental stress: a multicenter study. Neuropsychiatr Dis Treat. 2014;10:141-6. https://doi.org/10.2147/NDT.S55518.

65. Martin S, Wolters PL, Baldwin A, Roderick MC, Toledo-Tamula MA, Gillespie A, et al. Attitudes about internet support groups among adolescents and young adults with neurofibromatosis type 1 and their parents. J Genet Couns. 2014;23(5):796-804. https://doi.org/10.1007/s10897-014-9688-5.

66. Barke J, Coad J, Harcourt D. Parents' experiences of caring for a young person with neurofibromatosis type 1 (NF1): a qualitative study. J Community Genet. 2016;7(1):33-9. https://doi.org/10.1007/s12687-015-0247-z.

67. Akre C, Polvinen J, Ullrich NJ, Rich M. Children's at home: pilot study assessing dedicated social media for parents of adolescents with neurofibromatosis type 1. J Genet Couns. 2018;27(2):505-17. https://doi.org/10.1007/s10897-018-0213-0.

68. Morotti H, Mastel S, Keller K, Barnard RA, Hall T, O'Roak BJ, et al. Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1. Dev Med Child Neurol. 2021;63(2):226-32. https://doi.org/10.1111/dmcn.14558.

69. Payne JM, Walsh KS, Pride NA, Haebich KM, Maier A, Chisholm A, et al. Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes. Dev Med Child Neurol. 2020;62(7):813-9. https://doi.org/10.1111/dmcn.14517.

70. Eijk S, Mous SE, Dieleman GC, Dierckx B, Rietman AB, de Nijs PFA, et al. Autism spectrum disorder in an unselected cohort of children with neurofibromatosis type 1 (NF1). J Autism Dev Disord. 2018;48(7):2278-85. https://doi.org/10.1007/s10803-018-3478-0.

71. Bilder DA, Bakian AV, Stevenson DA, Carbone PS, Cunniff C, Goodman AB, et al. Brief report: The prevalence of neurofibromatosis type 1 among children with autism spectrum disorder identified by the Autism and Developmental Disabilities Monitoring Network. J Autism Dev Disord. 2016;46(10):3369-76. https://doi.org/10.1007/s10803-016-2877-3.

72. Morris SM, Acosta MT, Garg S, Green J, Huson S, Legius E, et al. Disease burden and symptom structure of autism in neurofibromatosis type 1: a study of the International NF1-ASD Consortium Team (INFACT). JAMA Psychiatr. 2016;73(12):1276-84. https://doi.org/10.1001/jamapsychiatry.2016.2600.

73. Garg S, Heuvelman H, Huson S, Tobin H, Green J. Sex bias in autism spectrum disorder in neurofibromatosis type 1. J Neurodev Disord. 2016. https://doi.org/10.1186/s11689-016-9159-4.

74. Garg S, Plasschaert E, Descheemaeker MJ, Huson S, Borghraef M, Vogels A, et al. Autism spectrum disorder profile in neurofibromatosis type I. J Autism Dev Disord. 2015;45(6):1649-57. https://doi.org/10.1007/s10803-014-2321-5.

75. Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, et al. Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study. Dev Med Child Neurol. 2013;55(2):139-45. https://doi.org/10.1111/dmcn.12043.

76. Plasschaert E, Van Eylen L, Descheemaeker M, Noens I, Legius E, Steyaert J. Executive functioning deficits in children with neurofibromatosis type 1: the influence of intellectual and social functioning. Am J Med Genet B Neuropsychiatr Genet. 2016;171(3):348-62. https://doi.org/10.1002/ajmg.b.32414.

77. Plasschaert E, Descheemaeker MJ, Van Eylen L, Noens I, Steyaert J, Legius E. Prevalence of autism spectrum disorder symptoms in children with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet. 2015;168(1):72-80. https://doi.org/10.1002/ajmg.b.32280.

78. Koth CW, Cutting LE, Denckla MB. The association of neurofibromatosis type 1 and attention deficit hyperactivity disorder. Child Neuropsychol. 2000;6(3):185-94. https://doi.org/10.1076/chin.6.3.185.3155.

79. Klein-Tasman BP, Janke KM, Luo W, Casnar CL, Hunter SJ, Tonsgard J, et al. Cognitive and psychosocial phenotype of young children with neurofibromatosis-1. J Int Neuropsychol Soc. 2014;20(1):88-98. https://doi.org/10.1017/S1355617713001227.
80. Rietman AB, van der Vaart T, Plasschaert E, Nicholson BA, Oostenbrink R, Krab LC, et al. Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet. 2018;177(3):319–28. https://doi.org/10.1002/ ajmg.b.32612.

81. Garwood MM, Bernacki JM, Fine KM, Hainsworth KR, Davies WH, Klein-Tasman BP. Physical, cognitive, and psychosocial predictors of functional disability and health-related quality of life in adolescents with neurofibromatosis-1. Pain Res Treat. 2012. https://doi.org/10. 1155/2012/975364.

82. Graf A, Landolt MA, Mori AC, Boltshauser E. Quality of life and psycho-logical adjustment in children and adolescents with neurofibroma-tosis type 1. J Pediatr. 2006;149(3):348–53. https://doi.org/10.1016/j. jpeds.2006.04.025.

83. Oostenbrink R, Spong K, de Goede-Bolder A, Landgraf JM, Raat H, Moll HA. Parental reports of health-related quality of life in young children with neurofibromatosis type 1: influence of condition specific determinants. J Pediatr. 2007;151(2):182–6. https://doi.org/ 10.1016/j.jpeds.2007.03.005.

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90. Dreyfus I, Pauwels C, Bourrat E, Bursztejn AC, Maruani A, Chiaverini C, Maza A, Mallet S, Bessis D, Barbarot S, Ezzedine K, Vabres P, Mazereeuw-Hautier J. Burden of inherited ichthyosis: a French national survey. Acta Derm Venereol. 2015;95(3):326–8. https://doi.org/10.2340/00015 555-1955.

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95. Wren G, Humby T, Thompson A, Davies W. Mood symptoms, neurode-velopmental traits, and their contributory factors in X-linked ichthyosis, ichthyosis vulgaris and psoriasis. Clin Exp Dermatol. 2022;47(6):1097– 108. https://doi.org/10.1111/ced.15116.

96. Kamalpour L, Gammon B, Chen KH, Veledar E, Pavlis M, Rice ZP, Chen SC. Resource utilization and quality of life associated with congenital ichthyoses. Pediatr Dermatol. 2011;28(5):512–8. https://doi.org/10. 1111/j.1525-1470.2011.01432.x.

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107. Santiago-Delefosse M. Évaluer la qualité des publications: quelles spé-cificités pour la recherche qualitative? Prat Psychol. 2004;10(3):243–54. https://doi.org/10.1016/j.prps.2004.07.010.

108. Stenfors T, Kajamaa A, Bennett D. How to ... assess the quality of qualitative research. Clin Teach. 2020;17(6):596–9. https://doi.org/10.1111/ tct.13242.

109. Wanitphakdeedecha R, Ng JNC, Yan C, Manusiatti W, Sudhipong-pracha T, Jantarakolica T. Quality of life and psychological effects of port-wine stain: a review of literature. Clin Cosmet Investig Dermatol. 2021;14:681–90. https://doi.org/10.2147/CCID.S315804.

110. Wanitphakdeedecha R, Sudhipongpracha T, Ng J, Yan C, Jantarakolica T. Self-stigma and psychosocial burden of patients with port-wine stain: a systematic review and meta-analysis. J Cosmet Dermatol. 2021;20(7):2203–10. https://doi.org/10.1111/jcdd.14199.

111. Ezeilo B. Psychological aspects of albinism: an exploratory study with Nigerian (IGBO) albino subjects. Soc Sci Med. 1989;29(9):1129–31. https://doi.org/10.1016/0277-9536(89)90026-9.

112. Dheensa S, Williams GA. 'I have NF. NF does not have me': an interpre-tive phenomenological analysis of coping with neurofibromatosis type 1. Health Psychol Update. 2009;18(1):3–7.

113. Ablon J. Gender response to neurofibromatosis 1. Soc Sci Med. 1996;42(1):99–109. https://doi.org/10.1016/0277-9536(95)00076-3.

114. Zöller ME, Rembeck B. A psychiatric 12-year follow-up of adult patients with neurofibromatosis type 1. J Psychiatr Res. 1999;33(1):63–8. https:// doi.org/10.1016/S0022-3956(98)00052-1.

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85. Wiener L, Battles H, Bedoya SZ, Baldwin A, Widemann BC, Pao M. Identifying symptoms of distress in youth living with neurofibroma-tosis type 1 (NF1). J Genet Couns. 2018;27(1):115–23. https://doi.org/ 10.1007/s10897-017-0128-1.

86. Varni JW, Nutakki K, Swigonski NL. Speech difficulties and patient health communication mediating effects on worry and health-related quality of life in children, adolescents, and young adults with neurofibromatosis type 1. Am J Med Genet Part A. 2019;179A(8):1476–82. https://doi.org/10.1002/ajmg.a.61197.

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88. Association Ichtyose France | Lichtyose – Présentation. https://www. ichtyose.fr/page/248746-presentation. Accessed 20 May 2021.

89. Troiano G, Lazzeri G. A review of quality of life of patients suffering from ichthyosis. J Prev Med Hyg. 2020;61(3):E374–8. https://doi.org/10. 15167/2421-4248/jpmh2020.61.3.1450.

90. Dreyfus I, Pauwels C, Bourrat E, Bursztejn AC, Maruani A, Chiaverini C, Maza A, Mallet S, Bessis D, Barbarot S, Ezzedine K, Vabres P, Mazereeuw-Hautier J. Burden of inherited ichthyosis: a French national survey. Acta Derm Venereol. 2015;95(3):326–8. https://doi.org/10.2340/00015 555-1955.

91. Dreyfus I, Bourrat E, Maruani A, Bessis D, Chiavérini C, Vabres P, Ezzedine K, Mazereeuw-Hautier J. Factors associated with impaired quality of life in adult patients suffering from ichthyosis. Acta Derm Venereol. 2014;94(3):344–6. https://doi.org/10.2340/00015555-1710.

92. Mazereeuw-Hautier J, Dreyfus I, Barbarot S, Serrentino L, Bourdon-Lanoy E, Ezzedine K, Maza A, Aujoulat I, Le Rhun A. Factors influencing quality of life in patients with inherited ichthyosis: a qualitative study in adults using focus groups. Br J Dermatol. 2012;166(3):646–8. https://doi.org/ 10.1111/j.1365-2133.2011.10701.x.

93. Sun Q, Ren I, Zaki T, Maciejewski K, Choate K. Ichthyosis affects mental health in adults and children: a cross-sectional study. J Am Acad Dermatol. 2020;83(3):951–4. https://doi.org/10.1016/j.jaad.2020.01.052.

94. Abeni D, Rotunno R, Diociauti A, Giancristoforo S, Bonamonte D, Schepis C, Neri I, Castiglia D, Zambruno G, El Hachem M. A multicenter study on quality of life of the "greater patient" in congenital ichthyoses. Orphanet J Rare Dis. 2021;16(1):440. https://doi.org/10.1186/ s13023-021-02085-9.

95. Wren G, Humby T, Thompson A, Davies W. Mood symptoms, neurode-velopmental traits, and their contributory factors in X-linked ichthyosis, ichthyosis vulgaris and psoriasis. Clin Exp Dermatol. 2022;47(6):1097– 108. https://doi.org/10.1111/ced.15116.

96. Kamalpour L, Gammon B, Chen KH, Veledar E, Pavlis M, Rice ZP, Chen SC. Resource utilization and quality of life associated with congenital ichthyoses. Pediatr Dermatol. 2011;28(5):512–8. https://doi.org/10. 1111/j.1525-1470.2011.01432.x.

97. Cortés H, Rojas-Márquez M, Reyes-Hernández OD, Morales-Morín JC, Guapillo-Vargas MRB, Varela-Cardoso M, Magaña JJ, Leyva-Gómez G, González-Del CM. Increased risk of depression and impairment in quality of life in patients with lamellar ichthyosis. Dermatol Ther. 2021. https://doi.org/10.1111/dth.14628.

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100. Katugampola GA, Lanigan SW. Five years' experience of treating port wine stains with the flashlamp-pumped pulsed dye laser. Br J Dermatol. 1997;137(5):750–4. https://doi.org/10.1046/j.1365-2133.1997.19462 061.x.

101. Hagen SL, Grey KR, Korta DZ, Kelly KM. Quality of life in adults with facial port-wine stains. J Am Acad Dermatol. 2017;76(4):695–702. https://doi. org/10.1016/j.jaad.2016.10.039.

102. Wang J, Zhu YY, Wang ZY, Yao XH, Zhang LF, Lv H, et al. Analysis of qual- ity of life and influencing factors in 197 Chinese patients with port-wine stains. Medicine. 2017. https://doi.org/10.1097/MD.00000000000009446.

103. Page MJ, McKenzie JE, Bossuyt PM, Boutron I, Hoffmann TC, Mulrow CD, et al. The PRISMA 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021;372:n71. https://doi.org/10.1136/bmj. n71.

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108. Stenfors T, Kajamaa A, Bennett D. How to ... assess the quality of qualitative research. Clin Teach. 2020;17(6):596–9. https://doi.org/10.1111/ tct.13242.

109. Wanitphakdeedecha R, Ng JNC, Yan C, Manusiatti W, Sudhipong-pracha T, Jantarakolica T. Quality of life and psychological effects of port-wine stain: a review of literature. Clin Cosmet Investig Dermatol. 2021;14:681–90. https://doi.org/10.2147/CCID.S315804.

110. Wanitphakdeedecha R, Sudhipongpracha T, Ng J, Yan C, Jantarakolica T. Self-stigma and psychosocial burden of patients with port-wine stain: a systematic review and meta-analysis. J Cosmet Dermatol. 2021;20(7):2203–10. https://doi.org/10.1111/jocd.14199.

111. Ezeilo B. Psychological aspects of albinism: an exploratory study with Nigerian (IGBO) albino subjects. Soc Sci Med. 1989;29(9):1129–31. https://doi.org/10.1016/0277-9536(89)90026-9.

112. Dheensa S, Williams GA. 'I have NF. NF does not have me': an interpre-tive phenomenological analysis of coping with neurofibromatosis type 1. Health Psychol Update. 2009;18(1):3–7.

113. Ablon J. Gender response to neurofibromatosis 1. Soc Sci Med. 1996;42(1):99–109. https://doi.org/10.1016/0277-9536(95)00076-3.

114. Zöller ME, Rembeck B. A psychiatric 12-year follow-up of adult patients with neurofibromatosis type 1. J Psychiatr Res. 1999;33(1):63–8. https:// doi.org/10.1016/S0022-3956(98)00052-1.

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197. Pourcel G, Bousquet PJ. ©Étude sur l'annonce du diagnostic de cancer et le ressenti des malades en 2011. Institut National du Cancer (INCa). 2012. https://www.e-cancer.fr/Expertises-et-publications/Catalogue-des-publications/Etude-sur-l-annonce-du-diagnostic-de-cancer-et-le-ressenti-des-malades-en-2011. Accessed 17 Dec 2021.

198. Moreno-Artero E, Morice-Picard F, Bremond-Gignac D, Drumare-Bouvet I, Duncombe-Poulet C, Leclerc-Mercier S, et al. Management of albinism: French guidelines for diagnosis and care. J Eur Acad Dermatol Venereol. 2021;35(7):1449-59. https://doi.org/10.1111/jdv.17275.

199. Kang E, Yoon HM, Lee BH. Neurofibromatosis type I: points to be considered by general pediatricians. Clin Exp Pediatr. 2021;64(4):149-56. https://doi.org/10.3345/cep.2020.00871.

200. Dufresne H, Compain S, de Longcamp A, Morice-Picard F, Deladrière E, Bekel L, et al. Co-construction d'un programme d'éducation thérapeutique dédié à l'albinisme. Ann Dermatol Venereol. 2020;147(12):A272-3. https://doi.org/10.1016/j.annder.2020.09.389.

201. Bronfenbrenner U. Ecology of Human Development – Experiments by Nature & Design. Reprint édition. Cambridge, Mass: Harvard University Press; 1979. 368 p.

202. Stangl AL, Earnshaw VA, Logie CH, van Brakel W, C Simbayi L, Barré I, Dovidio JF. The health stigma and discrimination framework: a global, crosscutting framework to inform research, intervention development, and policy on health-related stigmas. BMC Med. 2019;17(1):31. https://doi.org/10.1186/s12916-019-1271-3.

203. Legere D. Comment la génétique vient bousculer la famille et questionne le transgénérationnel: la place de la culpabilité dans un système familial. 47èmes Journées d'Étude de l'ALFPHV; 2021. Nantes.

204. Laurent K, Daviau L, Lebret C. Interculturalité/familles migrantes/transmissions en lien avec la déficience visuelle et les pathologies génétiques. 47èmes Journées d'Étude de l'ALFPHV; 2021. Nantes.

**Publisher's Note**

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Ready to submit your research? Choose BMC and benefit from:

* fast, convenient online submission

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* rapid publication on acceptance

* support for research data, including large and complex data types

* gold Open Access which fosters wider collaboration and increased citations

* maximum visibility for your research: over 100M website views per year

At BMC, research is always in progress.

Learn more biomedcentral.com/submissions

<figure><img src="image_4.png" /></figure>