bluuebunny/crossref_metadata_2025_split huggingface dataset:
PA23 Glomuvenous malformation or blue rubber bleb naevus syndrome: a case highlighting how a genetic diagnosis can avoid invasive testing and the need for long-term follow-up
Authors: Lapsley Rebecca , Darné Sharmela , Brennan Paul , Carmichael Andrew 
Published: June 2024

Abstract
Glomuvenous malformation is an inherited autosomal dominant venous malformation that presents with multifocal cutaneous blue purple vascular lesions. An important differential that should be excluded is blue rubber bleb naevus (BRBN) syndrome, which presents with similar cutaneous lesions. However, the critical difference is that the latter is associated with visceral lesions including in the gastrointestinal tract. This can cause intussusception or haemorrhage with significant sequelae including severe anaemia, consumptive coagulopathy and sometimes death. These patients require gastrointestinal investigations and close long-term follow-up. We describe the case of a 16-year-old girl who presented to clinic with multiple small venous malformations affecting her eyelid, arms, knee and back. Most lesions were present from birth; however, some were acquired in childhood and had increased in size. Some were tender but there was no reported bleeding. She had no significant past medical history. Her mother and maternal grandmother had similar lesions. Full blood count and coagulation studies were normal. Genomic DNA from blood samples was sent for a venous malformation panel, which demonstrated a glomulin (GLMN) c.157_161del mutation. This confirmed the diagnosis of familial glomuvenous malformation rather than BRBN syndrome. BRBN syndrome and glomuvenous malformation present as clinically similar entities with primary purple–blue papules, which are often multifocal and widespread. Lesions are often congenital but can increase in number and size particularly during puberty. Both conditions are inherited in an autosomal dominant manner (Lu R, Krathen R, Sanchez R et al. Multiple glomangiomas: potential for confusion with blue rubber bleb nevus syndrome. J Am Acad Dermatol 2005; 52: 731–2). Histopathology can be useful to distinguish between the two conditions; however, this requires a biopsy. Loss-of-function mutations in the GLMN gene cause glomuvenous malformations. These were first reported by Brouillard et al. in 2002, and c.157­_161del is the most frequent mutation (Brouillard P, Boon LM, Revencu N et al. Genotypes and phenotypes of 162 families with a glomulin mutation. Mol Syndromol 2013; 4: 157–64). With this case we wish to highlight how useful genetic testing is diagnostically for patients presenting with these cutaneous lesions. The discovery of the GLMN gene has allowed clinicians to distinguish glomuvenous malformations from other more concerning venous anomalies such as BRBN syndrome and thus avoid an invasive biopsy. Patients can be reassured and avoid the need for long-term follow-up, regular blood tests or gastrointestinal investigations.
British Society for Skin Care in Immunosuppressed IndividualsOral presentationsBI01 Intralesional triamcinolone acetonide and antiretroviral therapies: a lesser considered drug interaction
Authors: Fagan Nicole , Ryan Aisling 
Published: June 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.
BI03 The presence of VEXAS-related UBA1 mutation in a patient with myelodysplastic syndrome
Authors: Vetsiou Evangelia , Sekaran Arvindh , McDonald Sarah , Crawley Charles , Khoo Andre 
Published: June 2024

Abstract
A 56-year-old female patient with a background of myelo­dysplastic syndrome (MDS) was admitted with a febrile illness and a solitary, bullous skin lesion on her right inner thigh. This lesion started as a scaly patch 1 week prior to admission before developing into a large tense bulla with associated lymphadenopathy in the groin. The patient had a background of MDS, which was being treated with donor lymphocyte infusions, having relapsed from a previous allogeneic bone marrow transplant. Initial treatment was with intravenous antibiotics. While ultrasound did not reveal any clear underlying abscess, surgical debridement was performed due to the patient’s deteriorating clinical state and concerns about an infective focus within the wound. Histological analysis showed a neutrophilic infiltrate, raising suspicion of pyoderma gangrenosum or other neutrophilic dermatoses. A UBA1 mutation of uncertain significance was detected in the perivascular histiocytes, raising the possibility of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Following debridement and exclusion of an infective aetiology, the wound was managed with vacuum-assisted wound closure and a slowly weaning course of 40 mg oral prednisolone over 4 months. The patient subsequently underwent a second allogeneic bone marrow transplant, complicated by sepsis and requiring admission to critical care. During this hospitalization, she developed haemorrhagic lesions that were also considered to be due to an inflammatory process driven by her MDS. These were resolved following initiation of cyclophosphamide immunosuppression after her transplant. The cutaneous manifestations of MDS encompass neutrophilic dermatoses, cutaneous vasculitis and granulomatous skin lesions. Recognition of these manifestations has therapeutic and prognostic importance, as they can precede a diagnosis of MDS and be an indicator of poor prognosis. Differentiating classic MDS from VEXAS syndrome is critical, as the latter lacks additional molecular abnormalities and exhibits less cytological heterogeneity. However, a complex interplay exists between MDS and systemic autoimmune/autoinflammatory diseases (AID), with an undefined pathophysiological mechanism. In this case, we describe the development of known AID associated with underlying MDS in the presence of a VEXAS-related UBA1 mutation, which is responding favourably to stem cell transplant and immunosuppression. The patient is currently in recovery without further skin manifestations.
BI09 Skin cancer burden and dermatological follow-up in solid-organ transplant recipients: a regional study
Authors: Gilbert Georgia , Gupta Girish , Jones Ruth 
Published: June 2024

Abstract
Skin cancer is the most common malignancy affecting solid-organ transplant recipients (SOTRs). This places a significant burden on dermatology and transplant services. The National Institute for Health and Care Excellence recommends that SOTRs with high-risk skin lesions should be reviewed in a dedicated skin surveillance clinic [National Institute for Health and Care Excellence. Improving outcomes for people with skin tumours including melanoma. Available at: https://www.nice.org.uk/guidance/csg8 (last accessed 24 March 2024)], although service provision varies throughout the UK. There is currently no routine skin surveillance service in the region assessed in this study. In anticipation of the British Association of Dermatologists’ expert consensus guidelines for skin cancer surveillance in SOTRs, we aimed to analyse the skin cancer burden and skin surveillance practice within our region. As of November 2023, there were 749 living SOTRs in the region. Patient demographics, transplant type(s), immunosuppression regimens, skin cancer burden, dermatological follow-up and provision of skin cancer prevention advice were retrospectively collected from medical records. After exclusions were made, 648 patients were included for analysis. Pearson’s correlation, χ²-tests and t-tests were used to assess between-group differences. Overall, 15.4% of SOTRs had a skin cancer diagnosis [n = 100; squamous cell carcinoma (SCC) n = 54, basal cell carcinoma n = 59, melanoma n = 6] since transplantation. We found that 17.2% of SOTRs were under regular dermatological follow-up for skin surveillance (n = 112). In terms of SCC frequency, 26 patients had 1 lesion and 27 patients had 2 or more lesions. A total of 68 patients (10.5%) were noted to have extensive actinic keratoses. Older age (P = 0.01), male sex (P = 0.03) and increased time on immunosuppression (P = 0.03) were correlated with presence of skin cancer. The most common immunosuppressant regimen was mycophenolate mofetil (MMF), tacrolimus and prednisolone. The use of MMF seemed to be correlated to SCC burden (P = 0.009), but this is difficult to interpret in the context of multiple immunosuppressant agent use. Only 7.3% (n = 47) of SOTRs were prescribed suncream and 3.7% (n = 24) were offered acitretin. Our study highlights that there is a lack of consistency with regard to optimal skin cancer prevention follow-up and advice, in a region that does not have a routine dermatological skin surveillance service for SOTRs. Limited service resources highlight the importance of collaborative consensus guidelines on best practice for the prevention of skin cancer in SOTRs. Therefore, we have instituted a set of recommendations within our region including guidance regarding prescribed sunscreen use, pathways on how best to access dermatology for SOTRs presenting with skin lesions, and follow-up based on stratification of risk factors.
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: Bakr Farrah , Mensah Rita Entsua , Lusted Claire , Child Fiona , Thomas Bjorn , Whittaker Sean , Morris Stephen , Sim Van , Wain Mary 
Published: June 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.
BI29 Mycosis fungoides presenting in a patient with NFKB1 haploinsufficiency-associated common variable immunodeficiency
Authors: Carty Kieran , Crotty Gerard , Molloy Kevin 
Published: June 2024

Abstract
A 52-year-old man with a history of common variable immunodeficiency (CVID) secondary to NFKB1 haploinsufficiency was referred to the dermatology clinic. He had a worsening rash on his arms and legs with a background of a longstanding rash on his trunk for the last 2 years and his groin area for the preceding 12 years. He was diagnosed with CVID in 2009 and was receiving three-weekly intravenous immunoglobulin infusions. He had a history of childhood eczema and his son also had a history of eczema. On examination, the patient had erythematous infiltrated impetiginized plaques on his upper abdomen, buttocks and thighs and more subtle patches on his right chest consistent with a diagnosis of mycosis fungoides. His modified Severity-Weighted Assessment Score was 27.6 (patch 3.4%, plaque 12.1%). His staging investigations identified a weak clonal T-cell population in his bone marrow biopsy [B0b (L) lymphopenia]; a fludeoxyglucose F18 (FDG) avid lymph node in the region of his rash (likely dermatographic) and a discordant B-cell lymphoproliferation in biopsies of his FDG avid lung lesions. Lymphoma occurs in an estimated 2–8% of patients with CVID, the majority of which are non-Hodgkin lymphoma. To our knowledge, this is the first reported case of mycosis fungoides, the most common form of cutaneous T-cell lymphoma (CTCL) arising in a patient with NFKB1 haploinsufficiency. A recent report by Spangenberg et al. (Spangenberg MN, Grille S, Simoes C et al. Case report: mycosis fungoides as an exclusive manifestation of common variable immunodeficiency in a family with a NFKB2 gene mutation. Front Oncol 2023; 13: 1248964) described a family with two brothers who presented with mycosis fungoides as an exclusive symptom of a CVID, where whole-exome sequencing of the index patient revealed a pathogenic variant of the NFKB2 gene. High constitutive nuclear factor (NF)-κB activity in CTCL is responsible for increased malignant cell survival and proliferation and induction of NF-κB-dependent proinflammatory and anti-inflammatory cytokines. The role of NF-κB in CTCL lymphomagenesis warrants further investigation. Our case highlights that not only does a gain in NF-κB activity appear to confer an increased risk of developing mycosis fungoides, but a loss of such activity can also appear to confer an increased risk.
DE04 Using an ‘umbrella clinic’ format to optimize educational experiences for trainees and clinical supervisors in dermatology
Authors: Holloran Sophie , Myo Su Le , Whitley Helen 
Published: June 2024

Abstract
Learning in an outpatient environment is a key part of any medical trainee’s curriculum but is particularly pertinent for internal medical trainees, who need to demonstrate competence and evidence attendance at approximately 80 clinics on their portfolio to progress through training. With increasing demands on outpatient services and a lack of clinic space, it can be challenging to obtain this experience, and the logistics of doing so can significantly detract from the educational opportunities available. A review of outpatient care by the Royal College of Physicians in 2018 highlighted how we need to adapt our services not just to ensure we meet the increasing needs of patients in this clinical setting, but to make sure we are providing a high level of quality training for clinicians. With dermatology being a predominantly outpatient specialty, it is even more important to optimize learning experiences for students, general practitioners, internal medicine trainees and other senior trainees coming through the department, moving through the steps of Miller’s pyramid from being an observer to being able to practise independently. It can be hard to successfully bridge this gap in a busy, time-restricted outpatient setting. There is no perfect outpatient training model because, understandably, every department has different demands and resources. We would like to discuss our department’s model, an ‘umbrella clinic’ style, from the feedback of both trainees and consultant supervisors. The umbrella clinic is a model where a supervising consultant oversees multiple trainees in clinic at the same time. Clinic rooms are allocated for trainees to carry out the consultation, followed by a brief presentation to the consultant and a second senior patient review with the trainee and consultant. The trainees work from a single list of patients and review patients with the consultant in turn. We currently utilize this method for our general dermatology, paediatric and skin cancer clinics. This method allows for trainees of different levels of experience to naturally progress through Miller’s pyramid with immediate senior support available, becoming more confident and efficient over time. It also allows for supervising clinicians to have a better understanding of an individual trainee’s needs and supervision requirements. From an administrative perspective, this system allows flexibility by adapting the number of patients booked in each clinic depending on how many trainees and consultants are working together. Our experience demonstrates that this model of outpatient practice provides a higher level of satisfaction for the educational needs of trainees while maintaining an effective level of service provision for patients.
Poster presentationsDE06 Incorporating the ‘clinical teacher’ role in job plans: a way to increase medical students’ hands-on experience?
Authors: Piranie Humayra , Helbling Ingrid 
Published: June 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.