tbuckley/cabot-search huggingface dataset:
P17 A Multisite Service Evaluation of Paediatric Teleconsultations
Authors: Sarah McCusker, Aoife Daly, Natalie King, Manrup Hunjan, Lea Solman, Esther Burden-Teh, Susannah George, Gordon Hale
Journal: British Journal of Dermatology (2024)

Abstract Paediatric dermatology teleconsultations have become familiar territory since the Covid-19 pandemic. There is a continued drive to provide teleconsultations, with efficiency and cost-saving cited as benefits. Yet, this is not supported by a recent UK-wide survey of health professionals.1 We evaluated practice across two paediatric dermatology centres, to assess time required for teleconsultations. Data were collected prospectively from paediatric dermatology outpatient consultations for patients &amp;lt;16 years over 2 weeks in March and 4 weeks in September 2022. Consultation type (face-to-face/telephone/video), patient demographics, diagnosis and consultation length were reviewed. Caldicott approval was obtained. A total of 173 consultations were included. There was a range of diagnoses including eczema (n=60), skin lesions (n=22), vascular lesions (n=28) and other inflammatory skin conditions (n=63). Most consultations were face-to-face (n=108, 62%), while 38% (n=65) were teleconsultations. Median consultation duration was 13 minutes, 45 seconds (range: 2.5min–1hour 5min 2s). Comparison of consultation duration across 3 modalities (face-to-face vs telephone vs video) demonstrated no statistical significance between groups. (H(2)=5.76, P=0.056). There was a trend toward significance, likely due to 3 face-to-face consultations with duration of &amp;gt;50 minutes. Limitations include relatively small sample size and consultations carried out by few clinicians. Consultation modality is often influenced by case complexity, i.e., more complex consultations are likely to be held face-to-face. Future work includes a health-economic analysis of teleconsultations to determine if these are cost-effective.
Interleukin-1 receptor associated kinase 2 is a functional downstream regulator of complement factor D that controls mitochondrial fitness in diabetic cardiomyopathy
Authors: Stanislovas S Jankauskas, Fahimeh Varzideh, Pasquale Mone, Urna Kansakar, Francesco Di Lorenzo, Angela Lombardi, Gaetano Santulli
Journal: Military Medical Research (2024)
O02 Assessing SleeP in INfants with moderate-severe atopic Dermatitis by Longitudinal Evaluation (The SPINDLE study)
Authors: Cathal O’Connor, Soraia Ventura, Mark O’Sullivan, Alan Irvine, Deirdre Murray, Jonathan Hourihane, Michelle Murphy, Geraldine Boylan
Journal: British Journal of Dermatology (2024)

Abstract Introduction Atopic dermatitis (AD) is associated with sleep disruption due to pruritus, inflammation, increased transepidermal water loss (TEWL) and circadian alterations. Little is known about the impact of AD on sleep in early infancy, a critical time for neurodevelopment. The aim of this study was to deeply characterise the sleep architecture of 6-month-old infants with moderate-severe AD, compared to controls. Methods Overnight movements (defined as 10-15 seconds of movement) were measured for five consecutive nights using a novel wearable movement sensor. Infantile and parental sleep measures were reported by parents. Daytime sleep quality and quantity was measured by electroencephalogram (EEG) polysomnography. AD was assessed using clinical severity scoring, skin barrier assessment (TEWL, natural moisturising factor levels, and filaggrin mutational analysis) and inflammatory cytokine analysis by tape stripping. Results 57 controls and 33 cases were recruited. Average EASI at time of 6-month assessment was 7.2 (range 0.8-34.8). Infants with AD recorded almost twice as many overnight movements as controls (19.2 versus 11.2, p&amp;lt;0.05). Infants with AD slept for 13.1 hours versus 13.8 (p&amp;lt;0.05), and woke 3.5 times versus 1.9 (p&amp;lt;0.05). Infants with AD had differences in EEG sleep measures, including sleep spindle power and frequency. Mothers of cases had worse total sleep time (6.3 versus 7.1 hours, p&amp;lt;0.05), sleep-­onset latency (27.1 versus 12.8 minutes, p&amp;lt;0.05), and sleep ­efficiency. Conclusion This is the most detailed study ever performed on sleep in infants with AD using objective sleep measures, and has revealed significant effects on sleep architecture, sleep duration, and overnight movement.
P10 New rash in a child of skin of colour
Authors: Muhammad Fawad Aslam, Susannah Hoey
Journal: British Journal of Dermatology (2024)

Abstract A 7 year old Nigerian girl was referred by Haematology to the Paediatric Dermatology team with “suspected eczema”. She had known sickle cell disease, for which she was on hydroxycarbamide, Mum reported an 8 month history of a new rash with no systemic features. She had marked indurated plaques on face, forehead and forearms which were associated with scarring and hyperpigmentation. She had a number of investigation including negative urine dipstick. ANA was positive with elevated RO and RNP antibodies. Inflammatory markers were normal. Skin biopsy results were consistent with discoid lupus erythematosus. Stringent photo protection and sun blocking creams were advised. She was commenced on potent topical steroids and hydroxychloroquine which is first line systemic treatment. Within 4 weeks of commencing hydroxychloroquine there was significant flattening of the plaques. She was referred to Paediatric Rheumatology for assessment, given her high risk features. Clinical features of DLE in children are similar to adult DLE in presentation and chronic course. However it is rare in children with less than 2% of patients developing DLE before 10 years of age. DLE tends to be more common and severe in skin of colour. There are complications of scarring and pigmentation. It is important to be aware of the psychological impact on both parent and child’s quality of life. There is high risk of transition to SLE in children with DLE and hence screening bloods and early referral to Rheumatology should be considered.
P02 Erythrokeratodermia variabilis et progressiva due to a pathogenic variant in <i>GJB3</i> gene
Authors: Maria Bageta, Pablo Lopez Balboa, Debra Lomas, Gabriela Petrof, Anna E Martinez
Journal: British Journal of Dermatology (2024)

Abstract Erythrokeratodermia variabilis et progressiva (EKVP) is a clinically heterogeneous group of inherited disorders characterized by the coexistence of localized or generalized hyperkeratotic plaques and transient, stationary or migratory erythematous patches. EKPV is most often transmitted in an autosomal dominant manner. Causal pathogenic variants have been detected in the GJB3, GJB4, GJA1 KDSR and KRT83 genes encoding connexins 31, 30.3, 43, 3-ketodihydrosphingosine reductase and keratin 83, respectively. Connexins are expressed in almost all tissues and pathogenic variants in the connexin genes can cause skin diseases, cardiovascular disorders, myelin-related diseases, craniofacial disorders and hearing loss. We present a 2-year-old girl who was referred to our centre with well-demarcated hyperkeratotic plaques symmetrically distributed with a predilection for the distal extremities and buttocks as well as erythematous plaques on her cheeks. The hyperkeratotic plaques were hyperpigmented, exhibited a geographic morphology and had prominent hypertrichosis. Her trunk and upper extremities were spared and her hair, teeth and nails were normal. There was family history of mild psoriasis in her mother and mild eczema in her father. Next generation sequencing confirmed she was heterozygous for the GJB3 c.625C&amp;gt;T p.(Leu209Phe) pathogenic variant which is associated with erythrokeratodermia variabilis et progressiva-1 (MIM 133200) and autosomal dominant deafness-2B (MIM 612644). Erythrokeratodermia variabilis is largely a skin-limited condition however GJB3 pathogenic variants can cause haring loss and neuropathy due to its expression in peripheral nerves and the cochlea. Our patient’s hearing and development have been normal to date and will be monitored.
P31 Association of atopic dermatitis with thyroid diseases: a systematic review and meta-analysis
Authors: Ching-Chi Chi, Tzu-Yu Wang
Journal: British Journal of Dermatology (2024)

Abstract Background Atopic dermatitis (AD) and thyroid diseases have shared immune abnormalities, but their association was largely unclear. Objective To systematically examine the association of AD with thyroid diseases. Methods A systematic review was performed and the PubMed and Embase databases were searched on 26th August 2023. The risk of bias was assessed by using the Newcastle-Ottawa Scale. A random-effects model meta-analysis was performed and a subgroup analysis based on age groups was executed. Results The database searches yielded 205 records after removing duplicates. Nine case-controll studies with 5,367,891 subjects were included. The risk of bias of included was generally low to unclear. AD was significantly associated with thyroid diseases (pooled odds ratio (OR) 1.50, 95% confidence interval (CI) 1.23−1.85; studies = 6; I2 = 85%), which was present in both adults and children (pooled OR being 1.46 (95% CI 1.20−1.78; studies = 2; I2 = 63%) and 3.46 (95% CI 1.15−10.45; studies = 3; I2 = 63%). AD was also associated with Hashimoto disease (pooled OR 2.00, 95% CI 0.91−4.40, I2 = 95%; studies = 2) and Graves disease (pooled OR 2.21, 95% CI 0.59−8.31 I2 = 93%; studies = 2). Conclusions AD is associated with an increase of thyroid diseases. AD may be associated with Hashimoto and Graves diseases, but did not reach significance due to high statistical heterogeneity and paucity of evidence. Endocrinological consultation may be considered when AD patients present with thyroid symptoms.
P30 Trouble with skin: Do parents understand the impact skin conditions have on children’s quality of life?
Authors: Marion Leahy, Annette Murphy
Journal: British Journal of Dermatology (2024)

Abstract Paediatric skin conditions have a negative impact on the quality of life in patients and their families. The children’s dermatology life quality index score (CDLQI) was initially designed and published in 1951. Often the parent or guardian fills out this questionnaire; basing their answers on how they feel the disease is affecting the child. This leads to a biased CDLQI that doesn’t show the true impact on the child. Objective: To evaluate the impact of atopic dermatitis and psoriasis on children aged 4-12 and to assess if there is a difference in the CDLQI depending on whether the parent or child fills out the form. Observational cross-sectional study. Eighty patients aged 4-12 were recruited from paediatric dermatology clinic. Disease severity scores were completed and treatment to date noted. Parents filled out the CDLQI on their own while the child filled it out with the doctor. Parent and child answers assessed for differences. Eighty patients and parents met the inclusion criteria. Forty patients had psoriasis and forty had atopic dermatitis. Across all disease severities parents underestimated the impact of itch. The moderate disease cohort showed the greatest difference in patient/parent CDLQI. Parents overestimated how embarrassed children were and most parents felt the disease was impacting the childs friendships and causing bullying. The majority of children did not report this as being an issue. This highlights the impact of paediatric skin disease on carers and the importance of the child filling out the CDLQI form.
P26 A life threatening case of Von Zumbusch psoriasis
Authors: Juliana Graciani Moura
Journal: British Journal of Dermatology (2024)

Abstract We report a case of a patient admitted to intensive care with a pustulating skin eruption and haemodynamic compromise with near immediate response to infliximab. A 16-year-old male with a six-month history of mild plaque psoriasis presented to acute dermatology services with widespread annular pustular eruption, which developed days after a throat infection. Histopathology was consistent with pustular psoriasis. After an initial partial response, the pustules spread and persisted despite 2-month treatment with topical steroids and ciclosporin (dosed to 4 mg/kg). With raised inflammatory markers and repeated growth of Staphylococcus aureus, high dose intravenous flucloxacillin was administered. Four hours post infusion the patient became erythrodermic and haemodynamically unstable, requiring management in ICU. Repeat skin biopsy showed features of psoriasis without clear drug reaction features. Switching classes of antimicrobials and administration of intravenous immunoglobulins led to infection resolution but no significant clinical status change. A multi-disciplinary decision was made to trial intravenous infliximab. This resulted in near-immediate 90% improvement of skin and haemodynamic status. His excellent clinical response has been maintained on adalimumab thus far. Genetic screening for possible mutations associated with pustular psoriasis, including IL36RN and CARD14, are in process.
P05 Pre-visit online paediatric atopic dermatitis questionnaire – a feasibility study
Authors: Alex Gan, Emily Vaughan, Nataliya Heysa, Nina Mann, Jane Ravenscroft, Hywel Williams, Ting Seng Tang
Journal: British Journal of Dermatology (2024)

Abstract Introduction The use of structured questionnaires is common in patients with atopic dermatitis. Traditionally, this is done by paper-based questionnaires in clinics. Since the SARS-CoV-2 pandemic, many regard the shift from paper to digital forms as inevitable in order to improve efficiency, sustainability and reduce the risk of transmission. Objective This study aims to examine the feasibility and acceptability of pre-visit digital questionnaires in paediatric dermatology clinics. Methods Text message invitations to complete online questionnaires were sent to all patients who are due to attend a paediatric dermatology clinic at Nottingham University Hospitals. Results 1,218 responses were received between Sept 2021 and Mar 2022. 338 patients were reported to have eczema as their main skin complaint (71 new patients, 267 follow-ups). Amongst these, 113 patients were under 4 years old, 136 were between 4-12 years old and 89 were aged 13 or above. The average patient reported eczema severity was recorded as 12.6 +/– 7.8 SD using the Patient Oriented Eczema Measure (POEM) questionnaire. The majority of the questionnaires were filled in by the parents and required less than 5min to complete. 97.5% reported that they found the online questionnaire easier to use when compared to the paper format. Most participants and clinicians also reported they feel the online questionnaire enhanced their experience and consultation in the clinic. Conclusions Digital pre-visit online questionnaires are an acceptable method to gather information from parents of children with atopic dermatitis. Further work is required to assess the accuracy and clinical usefulness of the data.
P12 Teleconsultations for Eczema in CHildren (TECH) feasibility study: a UK online survey of young people and parents
Authors: Natalie King Stokes, Aoife Daly, Sarah McCusker, Manrup Hunjan, Ellen Vincent, Ashima Lowe, Carolyn Charman, Susannah George, Lea Solman, Esther Burden-Teh
Journal: British Journal of Dermatology (2024)

Abstract Providing teleconsultations for appropriate patients is a priority for outpatient service transformation, yet little evidence exists on their effectiveness and acceptability in paediatric eczema. We conducted a UK-wide online patient and parent survey to explore experiences of eczema teleconsultations. Further objectives included determining patient preferences and costs incurred with different appointments. Young people (13-16 years) and parents of children (0-16 years) with eczema, who had had a follow-up teleconsultation under secondary/tertiary care dermatology were eligible. Ethical approval was sought and a Jisc Online survey was advertised on social media for 12 weeks. Data was analysed descriptively in Microsoft Excel. There were 51 responses (31 parents, 20 adolescents) from across the UK. Most participants were receiving topical treatment, with 8 on systemic therapy. Of those who had experience of face-to-face appointments, 31/42 (73.8%) were ‘satisfied or very satisfied’, compared with 19/46 (41.3%) for telephone, 10/14 (71.4%) for video and 4/10 (40%) for online/mobile messaging. 49 (96.1%) participants reported they would feel ‘happy or very happy’ if their next appointment was face-to-face, compared with 14 (27.5%) for telephone, 14 (27.5%) for video and 6 (11.8%) for online/mobile messaging. 34 (66.7%) participants’ first-choice consultation was face-to-face, followed by 8 (15.7%) preferring a combination of face-to-face and telephone. Many commented that face-to-face was better for assessing the skin. These results, along with a qualitative interview study currently underway, provide an insight into the experiences and preferences of young people and parents regarding eczema follow-up and will help inform a future trial.
P32 Bullous Pemphigoid in Childhood and Infancy. A case of a 4-months old post vaccination
Authors: Sondos Hassanin, Arnav Katira, Nicola Hardcastle
Journal: British Journal of Dermatology (2024)

Abstract The first case of bullous pemphigoid was reported in 1970, however, this remains a mystery. Two peaks of incidences of BP in childhood have been reported in the first year of life (infantile BP) and around the age of 8 years old. Bullous pemphigoid is characterized by circulating autoantibodies that attack basal skin membrane antigens. Increasing numbers of cases have recently increased the suspicion around the link to immunization. We present the case of a 4-month-old male born at full term with no family history of skin diseases and progressive blistering disease manifesting as a papulovesicular eruption on the face, acral sites, and the trunk while sparing the back, who also recently received a 12-week vaccination. He was treated with Steroids, Intravenous immunoglobulin, and Erythromycin. However, management has been challenging due to limited evidence regarding treatment. He responded well with no relapse. Resources: Medline, Embase, and Google
O05 A Qualitative Study of the Psychological Morbidity in Paediatric Survivors of Stevens Johnson Syndrome and Toxic Epidermal Necrolysis
Authors: Christopher Phillips, Abigail Mcniven, Michelle Yeung, Tess McPherson
Journal: British Journal of Dermatology (2024)

Abstract Background Steven Johnsons Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare but devastating skin conditions. In adults, the long-term psychological sequelae are known(1), however, there is no such research in the paediatric population(2). Objective Our study’s aim was to explore the experiences of children and young people (CYP) and their parents during and after their illness and the subsequent physical and psychological sequelae. Method A retrospective qualitative study with a grounded theory approach was undertaken using detailed semi-structured interviews. 13 CYP and families who had been admitted to a tertiary referral centre were interviewed. Interview transcripts were analysed by three different researchers and themes emerging were identified. Results Age range of those interviewed was 10-24 years. Following discharge, patients frequently had ongoing physical issues and psychological morbidity. Common themes included inadequate information on discharge and a desire for more psychological aftercare for both CYP and parents. SJS/TEN and its causes did not appear to have been clearly explained. While there was marked heterogeneity in the experiences and impact on CYP, all parents interviewed cited symptoms of health anxiety, and some believed they had developed subsequent mental health issues. Conclusion Subsequent physical disability, health anxiety, psychological morbidity and little understanding of SJS/TEN were themes that were prevalent from our interviews. Families desire a more co-ordinated and holistic aftercare plan which may contribute to a better understanding of SJS/TEN as well as give opportunity to address the long-term physical and psychological morbidity of SJS/TEN.
P09 A prospective study of Narrowband UVB (nb-UVB) Phototherapy for atopic dermatitis (AD) in children and adolescents.
Authors: Pavan Sambi, Katharine Warburton, Rachel Montgomery, Parisha Majeethia, Mia Thompson, Sheila Clark
Journal: British Journal of Dermatology (2024)

Abstract We evaluated response to thrice weekly nb-UVB for AD (maximum 40 exposures), to assess outcomes immediately post-treatment and 12 months later. Post-treatment follow up was 3 monthly for 12 months. We sub-analysed response in different ethnicities. 58 patients were recruited: 37 (64%) male, 21 (36%) female, age-range 4.1-16.9 (mean 10.6) years. Ethnicities were: White Caucasian 22 (38%), Southern Asian (Pakistani/Indian/Bangladeshi) 17 (29%), Black African/Caribbean 9 (16%), Other 10 (17%). Immediately post-treatment, EASI 75 was achieved in: Overall 49%, Caucasian 48%, Southern Asian 50%, African-Caribbean 44%, other 56%. Mean EASI reduction was: Whole group 10.0, Caucasian 12.4, Southern Asian 8.6, African-Caribbean 2.5, Other 7.5. 12 months post-treatment (compared to pre-treatment), EASI 75 was achieved in: Overall 28%, Caucasian 33%, Southern Asian 40%, African-Caribbean14%, other 13%. Mean EASI reduction was: Whole group 7.6, Caucasian 9.0, Southern Asian 8.6, African-Caribbean -2.1 (worsening), Other 8.0. Erythema was the most common side effect noted in 33% of patients, the incidence in Caucasians 50% (n=11), other 30% (n=3), African-Caribbean 22% (n=2) and Southern Asian 12% (n=2). A similar proportion achieved EASI 75 across the different skin types, however, more variation in EASI score reduction was noted in skin of colour. A lower incidence of post-treatment erythema noted in darker skin types may be due to erythema underscoring or treatment underdosing. Our study showed sustained AD improvement up to a year after stopping treatment in 28% overall, highest in Caucasian and Southern Asian patients, with greater risk of relapse noted in African-Caribbean patients.
O06 Clinical phenotype of the Klippel-Trenaunay syndrome with mosaic <i>PIK3R1</i> mutations
Authors: Pierre Vabres, Camille Engel, Didier Bessis, Fanny Morice-Picard4, Hélène Aubert, Bertrand Isidor, Alice Phan, Olivia Boccara, Juliette Mazereeuw-Hautier, Annabel Maruani-Raphaël, Eve Puzenat, Paul Kuentz
Journal: British Journal of Dermatology (2024)

Abstract Segmental overgrowth syndromes with cutaneous vascular malformations (Klippel-Trenaunay syndrome (KTS), CLOVES syndrome) are mainly due to mosaic PIK3CA mutations, but the GNAQ, GNA11, HRAS, KRAS, MAP2K1, AKT1, AKT3, and PIK3R1 genes may also be involved. We sought to determine the frequency and phenotype of patients with PIK3R1-related segmental overgrowth. Patients were ascertained nationwide in the French MUSTARD cohort of skin mosaic phenotypes. We searched for PIK3R1 mutations by next-generation sequencing on affected tissue in 297 patients with a clinical presentation suggestive of PIK3CA related overgrowth (PROS), but without PIK3CA variants. We retrospectively studied the clinical phenotype of PIK3R1-positive patients. We identified three missense variants and six in-phase indels of PIK3R1 in 15 patients (5.0%), exclusively in affected tissue. Variant allele fraction was 2.0% to 12.0%. We found extensive pale or dark capillary malformations in 14 patients, segmental overgrowth in 11, venous truncal anomalies (varicose veins or persistent lateral marginal vein) in 10, lymphatic malformation in six and a café-­au-lait macule or naevus spilus in three, thus defining phacomatosis pigmento-vascularis (PPV). One patient had limb hypoplasia. None had MCAP (Megalencephaly-Capillary malformation). PIKR1 mutations account for a minority of patients with KTS/CLOVES (5%). They are about 20 times less common than PIK3CA mutations. Truncal venous malformations, limb hypoplasia and PPV (spilorosea or melanorosea type) may be more common in PIK3R1-related KTS. No patient had severe or life-threatening involvement. Whether Sirolimus or Alpelisib are treatment options remains to be determined.