tbuckley/cabot-search huggingface dataset:
P008 In over our heads?
Authors: Amy Long, Lisa Murphy, Claire Quigley, Niamh Leonard, Bairbre Wynne
Journal: British Journal of Dermatology (2024)

Abstract We present the case of severe circumferential folliculitis decalvans in a 42-year-old White man. He presented to dermatology age 38 years with a 5-year history of a nonpainful, occasionally itchy pustulating process from crown to occipital scalp, resulting in hair loss. A progressive process, it began on the nape of the neck as rough, red skin and slowly spread outwards. Past medical history included teenage acne. He did not smoke. He was on lymecycline at the time of presentation, prescribed by his general practitioner, and no other medications. On examination he had an extensive (25 × 18 cm) area with crud, pustulation with yellow discharge and cicatricial alopecia. There was an indurated red rim. Removal of the crust revealed friable granulation-like tissue. There were no other significant findings on full-skin exam. He had punch biopsies for histopathology and bacterial and fungal culture. Histopathology showed hair-bearing skin with extensive inflammation around hair follicles. There was focal acute folliculitis. The inflammatory infiltrate contained lymphocytes and prominent plasma cells. Fungal and bacterial cultures were negative. His condition had a profound impact on his quality of life. He suffered mentally from the stigma associated with folliculitis decalvans, and the severity of his condition compounded this. Over the proceeding 4 years his engagement with the service diminished and compliance wavered. He was treated with rifampicin and clindamycin, in multiple short courses and once consecutively for 6 months, which yielded some improvement. He declined nurse treatment for debridement and dressings, opting to do so himself at home with his wife’s assistance. He was highly qualified in business, yet remained unemployed. In 2023 he contacted dermatology requesting to be seen. He was off treatment for over 2 years. His scalp disease was extensive with circumferential involvement of his head, including matting of his facial hair with pus. Bacterial swabs grew Staphylococcal aureus. He attended twice-weekly nursing appointments for debridement. Clobetasol propionate was used on overgranulated tissue. He was treated with flucloxacillin (500 mg, four times daily for 2 weeks), followed by doxycycline (100 mg daily for 6 weeks), followed by azithromycin (500 mg, three times weekly for 4 weeks). He has achieved considerable improvement and is being considered for oral dapsone. Folliculitis decalvans is a debilitating disease with far-reaching personal consequence. This case depicts the severe end of the disease spectrum, and the issues that can arise in that context. Challenges faced by his team were not only medical, but also psychological by way of gaining the patient’s trust and managing vulnerabilities.
SG02 First report of <i>ABCA12</i> mutations causing isolated palmoplantar keratoderma and a review of mild phenotypes associated with <i>ABCA12</i>
Authors: Deyu Song, Sheng Wang
Journal: British Journal of Dermatology (2024)

Abstract This report presents a case of isolated palmoplantar keratoderma (PPK) resulting from mutations in the C-terminus of ABCA12, and reviews the reported mild cases associated with ABCA12 mutations. A 31-year-old female patient presented with progressive thickening of the palms and soles since the age of 7 years, with no obvious conscious symptoms. No rashes of ichthyosis were noted on other areas of the body, and no abnormalities of the nails, hair and teeth were identified. Genetic analysis identified a novel compound heterozygous ABCA12 gene mutation in the patient. This included a mutation c.7659_7662dupGAGT (p.Q2555Efs*20) in exon 52 and c.7386G&amp;gt;C (p.M2462I) in exon 50, inherited from her mother and father, respectively. The diagnosis of isolated PPK associated with ABCA12 variants was considered. Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses, encompassing conditions such as congenital ichthyosiform erythroderma (CIE; MIM #601277), harlequin ichthyosis (#242500) and lamellar ichthyosis, often accompanied by PPK. Occasionally, specific ABCA12 mutations have been linked to milder phenotypes, including erythrokeratodermia variabilis et progressiva (EKVP) and pityriasis rubra pilaris (PRP) (Table) (Sun Q, Burgren NM, Cheraghlou S et al. The genomic and phenotypic landscape of ichthyosis: an analysis of 1000 kindreds. JAMA Dermatol 2022; 158: 16–25; Takeichi T, Hamada T, Yamamoto M et al. Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes. J Dermatol 2024; 51: 101–5). In our study, PPK without lesions of generalized ichthyosis was noted. The identified causal mutations, located in exons 50 and 52, indicate a potential mild loss of protein function in the C-terminus of ABCA12, offering a plausible explanation for the observed mild phenotype. Our study expands the phenotypic spectrum associated with ABCA12 variants and underscores the genetic heterogeneity of isolated PPK.TableABCA12-associated mild keratinization disordersClinical phenotypeGenetic basisEKVPCompound heterozygous: p.N678Rfs*10; c.2866–8T&amp;gt;ACompound heterozygous: p.D844G;p.P1938SCompound heterozygous: p.Y1929*; p.E2284DCompound heterozygous: H1471R; T1534PRPHomozygous: p.T1534MHomozygous: p.R2426WNaevoid form of CIERecessive mosaicism: p.l1257Nfs*4; p.E1227KMild CIE with periodic exacerbationCompound heterozygous: p.N2184I; p.I2307Rfs*14Isolated PPKCompound heterozygous: p.Q2555Efs*20; p.M2462I
PS02 Efficacy of antipsychotics in delusional infestation
Authors: Paul K Tang, Peter Lepping, Sophie G Lepping, Eric O Noorthoorn, Stephen B Squire, Padma Mohandas, Anthony Bewley
Journal: British Journal of Dermatology (2024)

Abstract The 2022 British Association of Dermatologists’ (BAD) guidelines suggest the use of low doses of second-generation antipsychotics as the first-line pharmacological treatment option for adults with delusional infestation (DI). We evaluated the treatment responses associated with different antipsychotics in patients with DI. We undertook a multicentre, retrospective observational study using anonymized electronic patient records from two hospitals in the UK from 1 January 2011 to 1 January 2023. Eligible participants were adults (≥ 18 years) diagnosed with DI treated with an antipsychotic, and had both an assigned baseline and follow-up Clinical Global Impression Scale (CGI-S) score. Participants were excluded if they had known limited or nonadherence to an antipsychotic, or if no CGI-S scores were present at follow-up. First clinic visits before the initiation of an antipsychotic were assigned as the baseline CGI-S score. The last available CGI-S score before the patient either changed antipsychotic or left the clinic for any reason was used to assign the follow-up CGI-S score. The primary outcome was the response to each individual antipsychotic treatment, measured by the difference in the baseline and last available follow-up CGI-S scores. Differences in CGI-S changes between antipsychotic episodes were tested by Anova. In total, 414 patient records were analysed, and data were extracted. The mean age was 61.8 years (SD 14.1). Overall, 170 (41%) of the 414 patients were men and 244 (59%) were women. In total, 156 (38%) of 414 patients were eligible, yielding a total of 315 antipsychotic prescribing episodes. The Anova, ranking in order of treatment response, showed that the highest mean scores (expressing highest treatment response) were observed for amisulpride and risperidone, followed by some distance by quetiapine, aripiprazole and olanzapine (Table). In conclusion, amisulpride and risperidone were associated with a higher treatment response than quetiapine, aripiprazole and olanzapine, and should therefore be considered the first-line treatment options in patients with DI. We thank the BAD for sponsoring this study.TableDifferences in CGI-S scores between baseline and follow-up; data presented as n (%)Risperidone (n = 167)Aripiprazole (n = 46)Amisulpride (n = 46)Olanzapine (n = 28)Quetiapine (n = 25)Chlorpromazine (n = 1)Total (n = 313)+12 (1.2)5 (11)1 (2)1 (4)3 (12%)012 (3.8) 070 (41.9)28 (61)14 (9)20 (71)13 (52)1 (100%)136 (44.9)−161 (36.5)9 (20)10 (22)3 (11)6 (24)089 (28.4)−214 (8.4)4 (9)9 (20)2 (7)1 (4)030 (9.6)−314 (8.4)09 (20)2 (7)2 (8)027 (8.9)−46 (3.6)03 (7)0009 (2.9)−50000000
British Society for Skin Care in Immunosuppressed IndividualsOral presentationsBI01 Intralesional triamcinolone acetonide and antiretroviral therapies: a lesser considered drug interaction
Authors: Nicole Fagan, Aisling Ryan
Journal: British Journal of Dermatology (2024)

Abstract Antiretroviral therapies (ART) have transformed the management of HIV, leading to increased life expectancy. Dermatologists now encounter a substantial number of patients on ART, necessitating awareness of potential drug interactions. While interactions with oral and intravenous medications are well documented, the impact of ART on intralesional triamcinolone acetonide (TA) is less well recognized. A 43-year-old female patient presented with a 10-year history of keloid scarring secondary to a previous minor trauma. She had a history of HIV and was managed on a regimen of elvitegravir, cobicistat, emtricitabine and tenofovir alafenamide. Her most recent viral load was undetectable. On examination she had Fitzpatrick skin type VI. There was a 2 × 1-cm firm, thick, nontender, dumbbell-shaped nodule consistent with a keloid scar on her central chest. Her quality of life was significantly affected due to the cosmetic appearance, itch and pain. She was treated with intralesional TA 40 mg mL−1 at a dose of 0.1 mL per cm2. Shortly after treatment, correspondence was received from her treating infectious diseases team identifying a contraindication between cobicistat and TA due to the risk of iatrogenic Cushing syndrome (ICS) and secondary adrenal insufficiency (SAI). On review, 33 cases of ICS and SAI in patients concurrently treated with TA and ritonavir have been described in the literature. Three cases have been reported in patients on concurrent cobicistat. The method of administration of TA in these reported cases included intra-articular, epidural, intramuscular and intrabursal routes. Only one case was documented in a dermatology journal, emphasizing the need for increased awareness among dermatologists. Importantly, in some of these cases ICS and SAI developed after a single injection. Ritonavir and cobicistat are potent pharmacokinetic enhancers in HIV treatment, inhibiting cytochrome P450 3A4 (CYP3A4) activity. TA is also metabolized through CYP3A4 leading to increased serum cortisol with concomitant administration. A search using the University of Liverpool’s ‘HIV Drug Interactions Checker’ identified 10 regimens in which coadministration of TA injections are contraindicated and 1 potentially significant interaction. While ART and associated medications are typically managed by HIV specialists, prospective identification and avoidance of harmful drug interactions require communication and heightened awareness among clinicians and patients. The risk of ICS and SAI, even with a single injection, underscores the importance of thorough medication documentation and consideration for drug–drug interactions in patients with HIV, even in topical or intralesional routes.
SG09 Ichthyosis prematurity syndrome: from birth to adulthood
Authors: Iman Darwish, Edel O’Toole, Kapila Batta
Journal: British Journal of Dermatology (2024)

Abstract Ichthyosis prematurity syndrome (IPS) is a rare congenital syndrome presenting with the clinical triad of premature birth, thick vernix-like scale and respiratory difficulties. It is an autosomal recessive genodermatosis with mutations in the SLC27A4 gene encoding fatty acid transport protein 4, which regulates fatty acids critical for cornified envelope formation in utero. This mutation causes abnormal desquamation of keratinocytes into the amniotic fluid, resulting in polyhydramnios and respiratory failure due to aspiration of excessive keratinocyte debris (Khnykin D, Rønnevig J, Johnsson M et al. Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism. J Am Acad Dermatol 2011; 66: 606–16). Despite its well-described clinical features and major perinatal morbidity, IPS is still rarely recognized, with only a few cases having been reported in the literature. Here we describe the clinical features from birth to adulthood in a patient first diagnosed in her twenties. A 25-year-old woman was referred to our dermatology service with dry skin since birth and scalp hair loss for 2 years. The patient was born at 33 weeks’ gestation to unrelated parents. A fetal ultrasound at 33 weeks’ gestation demonstrated polyhydramnios with increased echogenicity of the amniotic fluid. At birth, she required endotracheal intubation for respiratory distress. She was noted to have thickened vernix-like scaling across the entire body, which gradually shed over 6 weeks to leave generalized dry skin, which has persisted. In adulthood, she reported very few hairs on her body and a 2-year history of frontal-scalp hair loss. She also reported reduced sweating and overheating in the summer months. On examination, she had extensive follicular hyperkeratosis and hypotrichosis. There was also an extensive area of follicular hyperkeratosis and alopecia in the frontal scalp. Her teeth and nails were normal. Next-generation sequencing showed she was compound heterozygous for the SLC27A4 c.556+2T&amp;gt;G pathogenic variant and the c.899A&amp;gt;G, p.Gln300Arg likely pathogenic variant, confirming the diagnosis of IPS. Both variants have previously been described in families with IPS. Her family have been referred for genetic counselling. IPS is an important diagnosis to consider in a neonate presenting with extensive hyperkeratotic skin changes, prematurity and respiratory failure. In our case, the diagnosis was established after 25 years and demonstrates the adult features, which have not previously been well described in the literature, including extensive follicular hyperkeratosis, alopecia and hypohidrosis.
PS10 A novel framework for the diagnosis, management and terminology of ‘dermatitis artefacta’
Authors: Rhiannon Nancarrow-Lei, Susannah Baron, Rukshana Ali, Tess McPherson
Journal: British Journal of Dermatology (2024)

Abstract ‘Dermatitis artefacta’ (DA), or ‘factitious skin disorder’, was first documented in 1909 by Spanish dermatologist Juan de Azúa, known for confronting and challenging his patients {Heras-Mendaza F. [Dermatitis artefacta 100 years ago]. Actas Dermosifiliogr 2009; 100: 657–60 (in Spanish)}. This condition is recognized as challenging, and patients can present a significant burden on health services (Mohandas P, Ravenscroft JC, Bewley A. Dermatitis artefacta in childhood and adolescence: a spectrum of disease. G Ital Dermatol Venereol 2018; 153: 525–34). Although current practice emphasizes understanding ‘why not how’, communications with patients, families and health professionals expose problematic inconsistencies not only across different specialities but also among dermatology colleagues. Specifically, the terms ‘DA’, ‘artefactual’, ‘factious’ and ‘malingering’ carry negative connotations of secrecy, dismissal and judgement. They serve to medicalize the condition, excluding the patient and thereby hindering open and honest communication. It further misrepresents the condition as intentional ‘self-harm’, failing to recognize the hidden underlying psychological distress – a perspective that warrants reconsideration. We present a case series of 10 presentations in children and young people, which highlights specific themes to aid a positive diagnosis and demonstrates a novel way to communicate with successful outcomes. We advocate for a comprehensive rebranding of this condition. It should be considered a functional illness – a physical response to emotional distress and deeper psychological need that may not be readily apparent. The field of psychiatry has witnessed a shift towards less stigmatizing terminology, illustrated by the adoption of ‘dissociative seizures’ in lieu of ‘pseudoseizures’. Particularly within the paediatric patient group, a dissociative phenomenon is likely at play, leading to genuine distress observed when new lesions emerge. The method by which these lesions appear may remain a mystery to both the patient and their families. A positive diagnosis should be made, and communication should prioritize openness, honesty and a patient-centred approach. We propose the term ‘external skin lesions (ESLs)’. ‘ESL’ is more readily accepted and understood by patients and their families than ‘DA’. Rather than focusing on investigating ‘ESL’ methods, attention should be directed towards exploring the underlying psychological causes – triggers, stressors, anxiety, and aspects of home and school life. Reassurance is crucial, providing clarity that this recognized condition arises from external damage, frequently occurring unconsciously as an expression of anxiety, stress or upset. The reassurance should extend to the understanding that there is no concern regarding skin healing, and improvement is likely through collaborative efforts involving family, school, and healthcare teams.
H17 Dermatology in times of famine
Authors: Seán O’Malley, Cliona Feighery
Journal: British Journal of Dermatology (2024)

Abstract From the years of 1845 to 1852, the Great Famine (An Gorta Mór) ravaged the island of Ireland. A multitude of factors contributed to the eventual extent of its devastation; however, at its core was the widespread failure of the potato crop. The most destitute year came in 1847, and by 1852 Ireland’s population is estimated to have declined from 8.5 million to 6.5 million, with 1 million having emigrated and another million dead. Starvation was the principal cause of death for some of those who succumbed to the Great Famine, but the majority who died did so as a result of illnesses arising from the crisis, both infectious and nutritional, and not only their toll on physical health but the consequent social ramifications. In this manner, infestations and cutaneous manifestations of illness played a vital role in the eventual morbidity and mortality of the Irish famine. General fever was common, mostly originating from lice infestation of the skin, which flourished in deteriorating conditions in settlements. Two variants developed that broadly separated between social classes: recurrent fever in the poor who had previous exposure, known colloquially as ‘getting the cool’, and the more deadly typhus fever that killed many of the middle and upper classes, in particular those who attempted to help the sick such as doctors and priests [Geary L. Epidemic diseases of the Great Famine. History Ireland. Available at: https://www.historyireland.com/epidemic-diseases-of-the-great-famine/ (last accessed 29 February 2024)]. Smallpox arose in frequent epidemics, and the associated widespread pustular rash, crusting lesions and eventual scabbing offered an obvious visual cue of illness. With limited quality food available, nutritional deficiencies contributed too to the deathly appearance of those afflicted. Lack of vitamin B3 resulted in pellagra, with its associated dermatitis, and a dire lack of vitamin C gave rise to scurvy, whose ecchymosis became known in Irish as ‘cos dubh’ or black leg. With such a constellation of symptoms, it can be appreciated why there was misunderstanding and fear of the sick. This led to division in communities about the construction of fever hospitals. Some pleaded for their establishment to quarantine the sick, while others resisted for fear of contagion and, in instances such as in Fethard, County Tipperary and Belturbet, County Cavan, committed arson attacks against the hospitals. Many who did not succumb were left pauperized and ostracized by their communities, in no small part as a result of their cutaneous manifestations of a multitude of diseases.
PS11 Assessment of willingness to pay for acne cure across different income groups, age groups, genders and disease severities in a UK secondary-care cohort
Authors: Moe Latt, Yalda Salari, Alison Layton
Journal: British Journal of Dermatology (2024)

Abstract Willingness to pay (WTP) is often used as a marker for burden of disease and health-related quality of life. To date, there are no other large UK studies available investigating WTP for a cure (WTP-cure) of patients with acne in secondary care. This study aims to review whether there are differences in acne WTP-cure across different groups in terms of income, age, gender and severity of disease, in patients presenting to secondary care. This was a single-centre, descriptive study of retrospective data collected from patients with acne referred to a National Health Service dermatology department (n = 1593). Consenting patients provided demographic data and completed a questionnaire quantifying WTP-cure for acne, as well as assessment of monthly income. Acne severity was assessed according to site using the Leeds revised acne grading system (O’Brien S, Lewis J, Cunliffe W. The Leeds revised acne grading system. J Dermatolog Treat 1998; 9: 215–20). Data were analysed using SPSS (IBM, Armonk, NY, USA. Anova and t-tests were used to calculate P-values (critical level 0.05). Lower-income groups demonstrated higher WTP-cure than higher-income groups (up to 128.2 times the monthly post-tax income in the lowest-income group of £10–20 per month, vs. up to 1.2 times in highest-income group of &amp;gt; £3500 per month; P &amp;lt; 0.05). People in younger age groups had higher frequencies of more severe acne at all sites, and lower incomes (P &amp;lt; 0.05). Controlling for income, patients in younger age groups had higher WTP-cure scores than those in the older age groups: 23.2 times the monthly post-tax income in the youngest age group of 10–13 years, vs. 1.7 times in the oldest group of ≥ 31 years. There was no correlation between WTP-cure and acne severity on the face or chest, but more severe acne on the back correlated with lower WTP-cure (P = 0.01). There was no significant difference in WTP between male and female patients [P(T ≤ t) two tail = 0.34]. There were significant differences in WTP-cure scores for acne across age groups, income groups and acne severities. There were no differences found for gender, or face or chest severity. It would be of benefit for further research studies to assess psychometric scores against WTP-cure.