tbuckley/cabot-search huggingface dataset:
PA32 A rare case of symmetrical giant facial plaque-type juvenile xanthogranuloma
Authors: Sharmela Darne, Abiola Makanjuola
Journal: British Journal of Dermatology (2024)

Abstract Juvenile xanthogranuloma (JXG), a form of non-Langerhans cell histiocytosis, is a rare benign condition estimated to affect 1 per million children. In 80% it presents as a solitary papule or nodule. There are several described subtypes of JXG including mixed, giant, subcutaneous, eruptive, clustered and plaque-like. Symmetrical giant facial plaque-type JXG is a very rare subtype, first described by Gunson and Birchall in 2008 [Gunson TH, Birchall NM. Symmetrical giant facial plaque-type juvenile xanthogranuloma. J Am Acad Dermatol 2008; 59 (2 Suppl. 1): S56–7]. We present a 2-year-old girl with a slowly progressive, asymptomatic, symmetrical orange-coloured rash on both cheeks that started around age 1 year. She was otherwise well. Examination showed well demarcated, orange-coloured indurated plaques covering both cheeks in a mask-like distribution. There was no lymphadenopathy or hepatosplenomegaly. There were no signs of neurofibromatosis. Full blood count, renal and liver function tests and lipids were normal. Biopsy showed subepidermal sheets of histiocytic proliferation. Lesional cells were positive for CD68 and negative for SOX10, compatible with JXG. She is currently awaiting ophthalmology assessment and an ultrasound scan of her abdomen. Over the course of her follow-up, the plaques have slowly extended, spreading onto the temples and chin, the axillae and both upper arms. JXG belongs to the proliferative dendritic-cell-related disorders and is the commonest form of non-Langerhans histiocytosis (Itin K, Häusermann P, Itin P, Fosse N. Symmetrical facial giant plaque-type juvenile xanthogranuloma: case report and review of the literature. Case Rep Dermatol 2021; 13: 399–406). It is most often characterized by a solitary red–yellowish benign papule (&amp;lt; 0.5 cm) or nodule (&amp;lt; 2 cm) that usually involves the head and neck (42%) or trunk (20–40%), although involvement at any body site can occur, including extracutaneous sites (the eye being the most common). It may be congenital, but most cases develop in the first year of life. It more commonly affects male patients, in a ratio of up to 7 : 1. There is usually spontaneous resolution, which takes months to years, leaving an atrophic scar. The giant symmetric facial subtype of JXG is exceptionally rare, with only five reported cases worldwide. In these cases, there was no spontaneous resolution during a follow-up period of between 2 and 6 years. None of the reported cases had systemic or extracutaneous involvement. Treatment options are undefined – one child had a partial response to a single fractionated CO2 laser treatment. We present this case to highlight awareness of this unusual presentation.
BI16 Real-life experience using topical nitrogen mustard gel in the treatment of stage IA–IVA2 mycosis fungoides: a single-centre experience of 66 patients
Authors: Farrah Bakr, Rita Entsua Mensah, Claire Lusted, Fiona Child, Bjorn Thomas, Sean Whittaker, Stephen Morris, Van Sim, Mary Wain
Journal: British Journal of Dermatology (2024)

Abstract Mycosis fungoides (MF), the most common subtype of primary cutaneous T-cell lymphoma, is characterized by the proliferation of skin-homing, malignant CD4+ T cells. In early-stage disease (IA–IIA) patients develop cutaneous patches and plaques; late-stage disease (IIB–IVB) is characterized by tumours, erythroderma, and blood and/or lymph-node involvement. Effective skin-directed treatment options for all stages of disease are limited. Topical chlormethine gel (Ledaga), known as nitrogen mustard, is an antineoplastic alkylating agent, licensed in England in August 2021 for the treatment of MF in patients who have received prior skin-directed therapy (Lessin SR, Duvic M, Guitart J et al. Topical chemotherapy in cutaneous T-cell lymphoma: positive results of a randomized, controlled, multicentre trial testing the efficacy and safety of a novel mechlorethamine, 0.02%, gel in mycosis fungoides. JAMA Dermatol 2013; 149: 25–32). The aim of this study was to evaluate our experience of using chlormethine gel in a single UK centre and to offer practical guidance in its use. All patients who commenced topical chlormethine gel in our unit between January 2022 (when chlormethine gel was first available to us) and December 2023 were identified. An intention-to-treat, retrospective analysis of medical records was performed. In total, 66 patients (58% male sex) were identified with a mean age at the start of treatment of 60.3 years (SD 14.6). Multiple stages of MF (IA 35%, IB 47%, IIB 9%, III 2%, IVA1 2%, IVA2 6%) were represented. Prior to commencing chlormethine gel, all patients had used topical steroids; 17% had received no other prior treatment. Overall, 18% were receiving concomitant systemic therapy, phototherapy or radiotherapy for their MF during chlormethine treatment. The mean duration of treatment with chlormethine gel was 264 days; 64% of patients consider the treatment a success and continue ongoing episodic treatment or have stopped due to a complete or partial response. A total of 8% of patients stopped due to disease progression, 5% due to lack of response and 21% due to unacceptable side-effects. Overall, 82% of all patients experienced toxicities; these were exclusively cutaneous, most commonly erythema (32%) and pruritus (32%). Toxicities were largely managed with brief treatment breaks, reducing the frequency of chlormethine application, emollients and topical steroids, enabling patients to continue treatment. We present real-life data on the use of topical chlormethine gel in our cohort of patients with MF and demonstrate that it is an effective, well-tolerated skin-directed therapy. Skin toxicities can generally be managed conservatively.
Poster presentationsDE06 Incorporating the ‘clinical teacher’ role in job plans: a way to increase medical students’ hands-on experience?
Authors: Humayra Piranie, Ingrid Helbling
Journal: British Journal of Dermatology (2024)

Abstract Around 60% of dermatological conditions are managed by nondermatology specialist doctors (Lowell BA, Froelich CW, Federman DG, Kirsner RS. Dermatology in primary care: prevalence and patient disposition. J Am Acad Dermatol 2001; 45: 250–5). Despite this, a survey of junior doctors found that only 8% of doctors felt confident in initiating basic therapy for a skin complaint (Hussain W, Hafiji J, Stanley AG, Khan KM. Dermatology and junior doctors: an evaluation of education, perceptions and self-assessed competencies. Br J Dermatol 2008; 159: 505–6). This highlights that there is a need to evaluate and improve current ‘hands-on’ dermatology undergraduate training. A quality-improvement project was done looking at fourth-year medical students on clinical placement in dermatology at a UK university hospital. Previous feedback showed that while attending dermatology clinics, 50% of students reported they did not have the opportunity to take any histories, and only 41% received feedback from clinicians. Students were asked to rate their satisfaction of their placement on a scale of 1 to 5; the average student score was 2.6. Based on this feedback, we decided to commit more clinicians to have a specific educational role as part of their job plan. Only one out of the existing nine consultants expressed an interest. This led to us organizing for one existing and four new senior dermatology colleagues, who had recently joined the department, to be assigned as ‘clinical teachers’ in their job plans. They were allocated 1–2 h per week dedicated to education (0.25–0.5 SPA – supporting programmed activity). Funding was from the existing dermatology undergraduate teaching budget. The clinical teachers were assigned to tutor a couple of students a week and to give them personalized feedback. Students were asked to assess the quality of this feedback through their online platform ‘My Knowledge Map’. The students also logged the number of histories they were able to take in clinic and with which clinician; this allowed us to organize a prize for the most accommodating clinician per block. The clinical teachers were also expected to deliver dermatology teaching sessions in a 1/7 rota, and to be involved in assessments. Through these changes, the percentage of students who were able to take a history during their dermatology week increased to 77% and 91% of these students received feedback on their skills. Overall student satisfaction in clinics increased from 2.3 to 3.4 out of 5. Our findings show that assigning a specific ‘clinical teacher’ role in the job plans of dermatology clinicians increased students’ hands-on experience, the amount of personalized feedback they received and overall student satisfaction.
BI30 An extensive follicular eruption in a transplant recipient
Authors: Sid Orpin, Bhavnisha Patel
Journal: British Journal of Dermatology (2024)

Abstract A 46-year-old woman, who had been a patient with poorly controlled type 1 diabetes since age 18 years, received a combined pancreas and renal transplant in 2020. She was taking tacrolimus and mycophenolate as an immunosuppression regimen and presented with a 6-month history of an extensive rash. On examination, there was a widespread, symmetrical eruption affecting face, trunk and limbs consisting of folliculocentric pigmented keratinous papules. On the face and trunk in particular, these demonstrated a spiny appearance. Clinically, this was considered to be trichodysplasia spinulosa (TS), a rare dermatological condition first described in 1995 and established to be caused by TS-associated polyomavirus (TSPyV) in 2010. All cases are associated with either immunosuppressive medication or diseases that cause reduced immune function. Biopsies taken from the patient’s trunk and left thigh showed striking features of dilated follicles with prominent dyskeratosis and the follicular wall replaced by cells with grey cytoplasm and vesicular nuclei, alongside numerous homogeneous, eosinophilic intracytoplasmic inclusion bodies. These features have been described in only one case of a form of acquired epidermodysplasia verruciformis (EV) caused by type 49 human papillomavirus (HPV). More often, HPV-3, 4, 5, 8 and 51 are seen in EV. Subsequent use of SV40, an immunohistochemical stain that is a surrogate marker for polyomavirus infection, failed to demonstrate TSPyV, confirming the diagnosis as EV. There are currently no published case reports of acquired EV presenting in this way, simulating the follicle-centred spiculated rash seen exclusively in TS up to this point. EV, whether of inherited or acquired origin, presents either as a spreading eruption of pityriasis versicolor-like scaly macules, flat planar wart-like papules or verrucous seborrhoeic keratosis-like papules and plaques. Although the acquired form of EV does not appear to have the same risks of developing cutaneous squamous cell carcinomas as the inherited type, there is still an increased incidence of such tumours in transplant populations, so treating EV in our patient remains an important goal. Unfortunately, there are no established, effective treatment modalities. With less widespread lesions cryotherapy, topical imiquimod or topical 5-aminolaevulinic acid photodynamic therapy might be considered. In this case, with extensive disease, systemic treatment with oral retinoids, interferons or cimetidine could be considered but the results are unpredictable, and even when this treatment is effective at reducing the number of EV-related lesions, there is a high risk of recurrence upon cessation of therapy. In the first instance, following discussion with the renal team, it has been decided to cautiously reduce the doses of the patient’s immunosuppressive drugs as this is often effective in cases of TS.
PA30 Unilateral naevoid telangiectasia: a case series
Authors: Karina Forde, Nigel Burrows
Journal: British Journal of Dermatology (2024)

Abstract Unilateral naevoid telangiectasia (UNT) is characterized by unilateral, linearly arranged telangiectasia in a blaschkoid or dermatomal pattern, most frequently involving the cervical dermatomes. It can be congenital but more frequently is acquired. It is thought to occur as a result of somatic mosaicism, with cutaneous lesions being unmasked under conditions of elevated oestrogen, such as puberty, pregnancy, alcoholism, hormone treatment and liver disease. There is conflicting evidence as to whether affected skin has increased levels of oestrogen receptors compared with unaffected skin. We report a case series of three adolescents who presented to our paediatric dermatology clinic with acquired UNT. Patient one was a 14-year-old boy who presented with a 9-month history of linearly arranged telangiectasia in a blaschkoid distribution along the left arm, forearm and dorsum of hand. Dilated capillaries with surrounding pallor indicating vascular steal phenomenon were evident. Systemic exam was unremarkable. Patient two was a 13-year-old girl referred with a 2-year history of telangiectasia across the left chest and upper back. Clinical exam revealed punctate telangiectasia with surrounding halos distributed in a C4, C5 and C6 dermatomal distribution on the left chest and back, along with a larger well-circumscribed telangiectatic patch on the left posterior shoulder. Clinical exam was otherwise normal. Patient three was a 15-year-old boy referred with a 1-year history of diffuse telangiectasia involving the right chest and arm. Clinical exam demonstrated pinpoint telangiectasia with surrounding halos distributed in a blaschkoid pattern across the right anterior chest with sharp midline cutoff. There was further subtle linearly distributed involvement of the right arm extending to the base of the right thumb. In all three cases liver and thyroid function tests were normal. Patients one and three were discharged with reassurance and patient two was referred for laser therapy due to concerns regarding cosmesis. This case series illustrates the typical presentation of acquired UNT presenting in adolescents, typically around onset of puberty. Although acquired UNT has been reported in association with liver and thyroid disease, previous case series have reported an absence of associated disease in adolescents presenting with UNT, mirrored in our cohort. Clinical diagnosis is appropriate, and no other investigations are indicated in the absence of additional features of concern. Although UNT is reportedly rare, it is likely under-recognized and under-reported. It is therefore important to be familiar with the presentation and natural history of the condition, so that appropriate reassurance can be given to patients and their families.
H22 Artificial intelligence: whose brains were behind it?
Authors: Amy Long
Journal: British Journal of Dermatology (2024)

Abstract Long considered futuristic, artificial intelligence (AI) has slowly but surely come to prominence in medical spheres over the last 90 years. Dermatology is poised to benefit from emerging AI technologies, with its inherent visual diagnostic methods and the increasing volume of digital photographic data underscoring its suitability for AI-augmented patient care. Algorithms have been around for centuries, but it was Alan Turing who was the first to formalize algorithm and computation in the 1930s, along with cracking the Enigma code during World War II. In 1943, the first artificial neural network of electrical circuits was modelled to simulate biological neurones in the brain, a concept crucial to the success of AI today. The term ‘artificial intelligence’ was first coined by John McCarthy in 1956 at Dartmouth College. Computer-aided diagnosis was first applied in the ana­lysis of pulmonary nodules detected in chest radiographs in 1963. MYCIN, Edward Shortliffe’s doctoral dissertation at Stanford University in the 1970s, was the first powerful use of AI, whereby a computer program correctly identified the causative bacteria in cases of bacteraemia and meningitis and even recommended antibiotic treatments. In 1998 the first Food and Drug Administration (FDA)-approved computer-aided diagnosis system was used in mammography. After the 2010s, a subfield of machine learning called deep learning emerged, and from then on AI flourished, creating meaningful applications across many fields, not least in dermatology. As dermatology is a morphological feature-dependent discipline, machine learning models are increasingly implemented as a diagnostic support tool using image analysis in areas including dermatopathology and skin cancer detection. MelaFind was the first FDA-approved digital cancer detection unit to identify melanoma, succeeded by Nevisense, and recently by DermaSensor, which was approved by the FDA in January 2024. The visual nature of dermatology lends itself well to transformative AI-augmented practice. Although in its infancy, with the correct government and regulation, AI has the potential to help practising dermatologists deliver better skincare.
BI13 (P065) Attitudes and practices of patients with inflammatory bowel disease towards skin cancer risk and sun protection
Authors: Maeve Herlihy, Eve Blake, Garry Courtney
Journal: British Journal of Dermatology (2024)

Abstract Skin cancer is the most common form of cancer in Ireland, with over 13 000 new cases diagnosed annually. People with inflammatory bowel disease (IBD) may be at higher risk of skin cancer. A meta-analysis performed on more than 170 000 patients diagnosed with IBD found that patients with IBD had a 37% higher risk of developing melanoma than expected in the general population (relative risk 1.37, 95% confidence interval 1.10–1.70). This increased risk was independent of IBD treatment. Additionally, many of the treatments used for IBD involve suppressing or altering the immune system. Immunosuppression is a risk factor for all types of skin cancer, and cutaneous malignancies in immunocompromised patients tend to behave more aggressively compared with those in the general population. The British Association of Dermatologists has published preventive guidelines for patients on immunosuppression, but specific gastroenterology recommendations are lacking. Prevention and early detection are therefore of paramount importance. Our aim was to assess knowledge of skin cancer risk factors and photoprotective behaviours in an Irish cohort of at-risk patients with IBD. A questionnaire was given to patients attending our IBD clinic. Clinical data were recorded including diagnosis, immunosuppressants, skin cancer risk factors and photoprotective behaviours. In total, 87 patients (52% women) with IBD (63% Crohn disease, 35% ulcerative colitis) were included. All participants were White, with 77% recorded as having ‘fair’ or ‘very fair’ skin. Most patients (97%) were on treatment for their IBD (66% on biologics, 25% on immunomodulators). Over one-third of participants (35%) were unaware of an increased skin cancer risk associated with IBD. Four patients had a history of skin cancer, two of which were melanoma. Half of patients (48%) had been sunburnt in the last year, and 36% had more than 10 burns in their lifetime. In total, 57% of patients reported a history of blistering sunburn and 22% of patients had used sunbeds. Knowledge of skin cancer risk factors and worrisome features was generally good, and the majority of our cohort (74%) always wore suncream abroad. However, less than half wore suncream frequently in Ireland (37%) or when it is cloudy (22%), and also did not take other important measures, such as reapplying suncream every 2 h (43%), or wearing a hat (26%) or protective clothing (32%). Our study highlights gaps in the education of our IBD cohort regarding skin cancer risk and prevention, and suggests that primary prevention of skin cancer in this IBD cohort is suboptimal. Ideally, educational interventions to enhance patient awareness and encourage adequate photoprotection and skin self-surveillance should be undertaken and assessed.
Skin GeneticsOral presentationsSG01 WNT10A-related ectodermal dysplasia: five cases demonstrating the phenotypic spectrum
Authors: Emily Vaughan, Jane Ravenscroft, Mohnish Suri
Journal: British Journal of Dermatology (2024)

Abstract Ectodermal dysplasia is the term used to describe a group of genetic conditions that lead to developmental abnormalities of two or more of the following: teeth, hair, nails, sweat glands, and other ectodermal structures. Mutations in EDA, EDAR, and EDARADD account for over one-half of all cases, but several other genes have also been implicated. The first report of an ectodermal dysplasia caused by an altered WNT signalling pathway was reported in 2007. It is now recognized that WNT10A variants cause a spectrum of autosomal recessive ectodermal dysplasia syndromes, from isolated hypodontia, to odonto-onycho-dermal dysplasia (OODD), to Schopf–Schulz–Passarge syndrome (SSPS). Interestingly, heterozygous carriers can have more subtle dental, nail or hair abnormalities. We report five cases with biallelic WNT10A variants to demonstrate their key clinical findings. The patients ranged in age from 3 to 43 years. All five cases had a hair–tooth–nail-type ectodermal dysplasia with hypodontia, abnormally shaped teeth, fine or sparse scalp hair and eyebrows, and dystrophic nail changes. Three cases reported hyperhidrosis, whereas two patients reported hypohidrosis and temperature regulation difficulties. Eczema of varying severity was reported in all cases, with palmar hyperkeratosis in three. Two adult patients had developed apocrine hidrocytomas along the eyelids, which would suggest a diagnosis of SSPS. The other three were diagnosed with OODD. SSPS can be associated with an increased risk of benign adnexal tumours, squamous cell carcinomas and basal cell carcinomas. There is no history of benign or malignant skin tumours among our patients to date. Biallelic WNT10A variants were identified in all five cases by testing for variants in the 37-gene ectodermal dysplasia panel (R163; version 3.0). Three cases were homozygous for the pathogenic c.321C&amp;gt;A (p.Cys107Ter) variant. One case was compound heterozygous for the c.321C&amp;gt;A and likely pathogenic c.283G&amp;gt;A (p.Glu95Lys) variants. The fifth case was found to be compound heterozygous for the c.321C&amp;gt;A and pathogenic c382C&amp;gt;T (p.Arg128Ter) variants. This case series shows that biallelic WNT10A variants result in a hair–tooth–nail-type ectodermal dysplasia with either hyperhidrosis or hypohidrosis. It is difficult to differentiate between OODD and SSPS in younger cases as the characteristic eyelid cysts of the latter only develop in adult life.