tbuckley/cabot-search huggingface dataset:
BI32 A case of pembrolizumab-induced psoriasiform rash treated with risankizumab
Authors: Vani Agarwal, Georgie Chamberlain, Laksha Bala, Noha El Shimy
Journal: British Journal of Dermatology (2024)

Abstract We present the case of a 77-year-old female patient with a pT3a clear cell renal cell carcinoma who underwent a nephrectomy and adjuvant pembrolizumab therapy. She had a past medical history of hypercholesterolaemia, for which she took atorvastatin. After 11 cycles of pembrolizumab she developed widespread erythematous plaques with overlying scale. The initial clinical diagnosis was a lichenoid drug eruption secondary to immunotherapy. Pembrolizumab was paused for 4 weeks and the rash significantly improved with daily application of 0.1% mometasone ointment. After two further cycles of pembrolizumab, the rash reoccurred with worsening severity. A 4-mm punch biopsy was taken from the right thigh. This showed parakeratotic scales, dense neutrophilic inflammation, hypogranulosis, psoriasiform hyperplasia and a dense dermoepidermal mixed acute and chronic inflammatory infiltrate. This was consistent with a psoriasiform pattern of inflammation. Of note, she did not have a personal or family history of psoriasis. Despite maximum topical therapy and stopping immunotherapy, her Psoriasis Area and Severity Index (PASI) score increased from 10 to 33 over a few weeks. She had a body surface area coverage of 70%. Her Dermatology Life Quality Index (DLQI) score was 24. Owing to the severity of her skin and relative contraindications (history of malignancy) to conventional systemic therapies, the decision was made to commence risankizumab, an interleukin-23 inhibitor. She had an excellent response with an improvement of PASI score to 8.4 and DLQI score to 4, 4 weeks after initial induction. Pembrolizumab is an immune checkpoint inhibitor that inhibits programmed cell death 1. It has been associated with a wide variety of cutaneous adverse events including eczematous, morbilliform and lichenoid dermatoses, as well as vitiligo and pruritus. It has less commonly been associated with psoriasiform dermatoses, bullous disorders and severe cutaneous adverse reactions. In the literature, there have been reported cases of immunotherapy-induced psoriasis that have been successfully treated with apremilast and secukinumab. To our knowledge, this is the second reported such case of successful treatment with risankizumab. As immunotherapy continues to become more widely used for the treatment of malignancies, reporting cases of safe, rapidly responsive and efficacious treatments is of great importance.
BT19 The rising dermatology advice and guidance pandemic: building a workforce group with nationally implantable solutions that led to significant improvements over a 10-week period
Authors: Charankumal Singh Thandi, Jake Moss, Margaret Andrews
Journal: British Journal of Dermatology (2024)

Abstract Advice and guidance (A&amp;G) has become more prominent in medicine and has been used across multiple specialties. It has been implemented by most dermatology departments, which tackle the challenge in different ways. Why is it so challenging? What can we do to fix it? How can it be more manageable? These are common questions that are asked by clinicians, managers and referrers. We conducted a multicycle quality improvement project at our hospital collating feedback from clinicians, managers and referrers. As part of this we identified multiple challenges and also had a list of solutions, many of which led to the following improvement. We formed an A&amp;G focus group within the department with a registrar chairing the group and discussing solutions at an annual strategy meeting. The first method was identifying the challenges. The challenges included a high number of referrals, multiple duplicate referrals that were pending, poor-quality photographs including inadequate dermoscopy, and, concerningly, referral of pigmented lesions including melanomas without review within primary care with senior clinicians. Having collated this list of challenges we emailed around asking for each clinician’s feedback from the team that actively takes part in A&amp;G. These responses were collated and are shown below. They led to the following significant improvements in the numbers of pending A&amp;G dermatology cases in the hospital. Over a 10-week period during this project there was a 33.6% reduction in the number of pending referrals from a peak of 1075 cases. There was a 99.4% reduction in the number of days taken to respond to urgent cases, a 35.7% reduction in the number of days taken to respond to paediatric cases and a 83.3% reduction in the number of days taken to respond to adult A&amp;G referrals. The solutions involved (i) ensuring A&amp;G staff were given clear dedicated time within job plans, with each clinician having a set number of cases to do per month; and (ii) feeding back response times via the local integrated care board during meetings and signposting to correct referral pathways during responses (as a tool to reduce overall duplication). Future plans include holding a circuit breaker week and sending out generic criteria for advice and guidance at the end of each response, highlighting current response time and the avoidance of 2-week-wait lesions. Our model can be used nationally within any medical or surgical specialty and has the potential to lead to significant improvements. It can help to ensure that referrers are clear of the pathways, while making A&amp;G more manageable.
P012 A delayed diagnosis of neurofibromatosis type 1 during pregnancy
Authors: Alice Dyer, Elena Papadakou, Anjnee Shah
Journal: British Journal of Dermatology (2024)

Abstract Neurofibromatosis type 1 (NF1) is a multisystem autosomal dominant disorder with a prevalence of 1 in 3500 live births. It is caused by mutation of a tumour suppressor gene NF1, located in the long arm of chromosome 17 (17q11.2). There is a 1 : 1 ratio for spontaneous vs. inherited mutations. Mutations resulting in the loss of function of neurofibromin leave cells susceptible to uncontrolled proliferation via overstimulation of protein kinase pathways by unchecked Ras proteins. The common cutaneous manifestations of NF1 – café au lait macules, neurofibromas and intertriginous freckling, appear in most patients by the age of 20 years. Neurofibromas typically first appear during puberty, resulting in questions regarding the role of steroid hormones. To support the hypothesis that steroid hormones contribute to neurofibroma development, we present a new diagnosis of NF1 following the eruption of neurofibromas in a 32-year-old woman during her first trimester of pregnancy. A patient presented in the third trimester of her first pregnancy, with a long history of four unchanged cutaneous papules affecting the right breast. During the first trimester these had increased in number, size and extent of distribution. The patient had no previous history of skin abnormalities, scoliosis, malignancy or developmental delay. There was no family history of NF1. Examination revealed over 50 skin-coloured papules in a segmental distribution involving the entire right arm, right chest and right thigh, as well as five café au lait macules involving the trunk. Histological analysis confirmed neurofibromas, supporting the NF1 clinical diagnosis, which was positive on genetic testing. The pregnancy progressed uneventfully. The patient’s mother subsequently tested positive for NF1 mutation without having any symptoms or signs. In vitro studies have demonstrated that up to 86% of cutaneous neurofibromas possess progesterone receptors; they have also found high levels of heterogeneity when examining the proliferation of NF1 cell cultures in response to steroid hormones. It is unclear why levels of steroid hormones at birth or during puberty are enough to trigger formation of neurofibromas in some patients but not others. This represents an important area for research regarding whether further tumour factors, such as epigenetics, may alter the response to environmental and genetic triggers. Consideration of NF1 as a diagnosis in people of all ages is essential, particularly in view of the increased risks it presents during pregnancy. Patients with NF1 are more likely to develop gestational hypertension, pre-eclampsia and intrauterine growth restriction. Appropriate prenatal counselling and imaging for detection of spinal soft tissue tumours prior to epidural use are additional important aspects of patient management. These were not possible for our patient due to her late diagnosis.
PA29 A case of atypical herpes zoster in an immunocompetent infant with congenital melanocytic naevi
Authors: Sarah Johnston, Alison Honan
Journal: British Journal of Dermatology (2024)

Abstract An immunocompetent 6-month-old child presented with a striking bandlike inflammatory eruption. She was systemically well with no apparent symptoms. Her only medical history was of congenital melanocytic naevi. Brain imaging had not yet been requested. She was exposed to chickenpox at 4 weeks old but had no clinical evidence of primary varicella infection. The patient’s mother had chickenpox in childhood. The patient had crops of grouped vesicles on erythematous bases, on her abdomen and left midback extending onto the left flank. Although perceptibly thoracic dermatomal, the plaques crossed the midline. She also had a large congenital melanocytic naevus overlying the left thoracic region with a number of smaller naevi on her scalp, chest and back. Herpes varicella zoster was confirmed by viral swab. The patient was treated with oral aciclovir and has had complete resolution. Subsequent magnetic resonance imaging confirmed neurocutaneous melanosis. Herpes zoster (HZ) is a segmental eruption due to reactivation of latent varicella zoster virus (VZV) from sensory dorsal ganglia. HZ is typically a painful condition affecting older adults or immunocompromised individuals. Infantile HZ is rare, with an estimated incidence of 0.2 per 1000 person-years in 0–5 year olds (Kurlan JG, Connelly BL, Lucky AW. Herpes zoster in the first year of life following postnatal exposure to varicella-zoster virus: four case reports and a review of infantile herpes zoster. Arch Dermatol 2004; 140: 1268–72). Most cases occur due to intrauterine VZV exposure or early postnatal exposure. Primary infection before 12 months increases the risk of HZ, due to immune system immaturity and less sustained cell mediated immunity. Maternal antibodies can alter primary infection to a subclinical form. Infantile HZ tends to be milder and not associated with complications such as postherpetic neuralgia. Therefore, there is no consensus on whether antiviral treatment is required. Infantile HZ is likely underestimated due to the milder presentation, subclinical primary infections and assumption that maternal antibodies provide protection. Case reports describe vesicles slightly outside the primary dermatome, but to best of our knowledge there are no case reports of eruption crossing the midline. This case highlights the importance of considering HZ as a differential in vesicular eruptions in infants. It highlights the differing presentation where lesions can be asymptomatic and less typically dermatomal. As an additional learning point, this case emphasizes the role of imaging in the presence of large congenital melanocytic naevi to aid diagnosis and prognostication. Early imaging can avoid sedation and increases the sensitivity of detecting melanosis prior to brain myelination in late infancy (Jakchairoongruang K, Khakoo Y, Beckwith M, Barkovich AJ. New insights into neurocutaneous melanosis. Pediatr Radiol 2018; 48: 1786–96).
SG16 CBM-opathies for the dermatologist: a rapidly expanding delineated spectrum of heterogeneous phenotypes
Authors: Faisal Dubash, Louise Henderson
Journal: British Journal of Dermatology (2024)

Abstract CBM [Caspase recruitment domain (CARD) protein–B cell lymphoma/leukaemia 10 (BCL10)–MALT1 paracaspase (MALT1)] complex proteins regulate critical signalling of innate and adaptive immunity. They cause a spectrum of primary immunodeficiency disorders, primary atopic disorders and immunodysregulatory syndromes. Germline mutations associated with CBM-opathies can cause antifungal immunodeficiency, CADINS, BENTA, atopic dermatitis, psoriasis, pityriasis rubra pilaris, and CARD14-associated papulosquamous eruption. Genes related to human germline CBM-opathies include CARD9, CARD11, CARD14, BCL10 and MALT1. We have reviewed key dermatological phenotypes related to human germline CBM-opathies. A notable example includes autosomal dominant hypomorphic CARD14 mutations associated with severe atopic dermatitis. Patients tend to be in their first year of life (between 3 and 12 months) with severe atopy, recurrent pyogenic and viral skin infections, and chest infections, as a consequence. CARD14 mutations may impair nuclear factor-κB activation, decreasing inflammatory gene expression, and impact epidermal secretion of antimicrobial peptides. Although hypomorphic mutations in CARD11 and CARD14 cause atopic dermatitis, gain of function mutations are associated with BENTA and inflammatory psoriatic skin disease. Psoriasis or pityriasis rubra pilaris diagnosed in individuals with earlier onset may warrant a high suspicion for sequencing of CARD14 in patients and families to aid therapeutic decisions. Genetic diagnoses can be made using next-generation sequencing techniques, such as whole-exome sequencing, whole-genome sequencing, or an immunodeficiency gene panel. For diagnostic confirmation, novel variants for CBM-opathies may be identified using methods to assess expression of proteins such as CARD11, phosphorylation of nuclear factor-κB, and degradation of IkBa.
BT16 BT17 Dermatology advice and guidance: a service evaluation
Authors: Kugili Sathanantham, Sian Hickey, Judith Ellison
Journal: British Journal of Dermatology (2024)

Abstract We wish to present a service evaluation undertaken of the regional dermatology advice and guidance (A&amp;G) service provided within our locale. As part of the national Elective Care Transformation Programme, A&amp;G services were created, primarily as a consultant dermatologist-led service prior to referral. This was designed to transform the way in which primary care referrals are managed with continued access to specialist clinical advice. The process permits the streamlined conversion to National Health Service referral if required and is being advocated as a potential main referral pathway to dermatology in England. This has resulted in a 400% increase in dermatology A&amp;G requests since the onset of the COVID-19 pandemic in 2020 across England. In real-world practice, this translated to 200 referrals over a 2-week period across four trusts. Our service evaluation analysed the practices across the region to capture the way this service is currently delivered. We focused on the grade of the provider of A&amp;G, whether a rota system was in place, how this was job planned into clinical activity, the service platform utilized and the size of the region the service covered. Each referral was assessed to ascertain the grade of the referrer and whether appropriate imaging and an adequate past medical and medication history were provided. From our service evaluation, approximately 25% of A&amp;G outcomes were directed to have a referral only, 30% of outcomes were advice followed by formal referral if advice did resolve the problem, and 25% of referrals were given advice only. Overall, 20% of referrals were rejected due to either inadequate imaging, inadequate history and imaging, or an inadequate history alone. In conclusion, 70% of the surveyed consultants felt the A&amp;G referrals were subjectively useful to patients and as an educational tool to general practitioner colleagues. This service evaluation provided a baseline understanding of A&amp;G: 25% of current referrals were managed via this service alone, and 30% of the referrals were given a trial of advice with safety-net formal referral advocated if advice did not resolve the issue. As a result, nearly 50% of referrals were managed via an electronic referral service where they would have previously been managed via a face-to-face clinic appointment.
BG08 Boosting the cutaneous chronicle of the COVID-19 vaccine: it’s not over yet
Authors: Emily Moon, Chenjing Peng, Anthony Abdullah
Journal: British Journal of Dermatology (2024)

Abstract The initial UK rollout of the SARS-CoV-2 COVID-19 vaccine in 2020 sparked concerns regarding vaccine-related adverse reactions. Cutaneous pustular eruptions subsequent to COVID-19 vaccination have primarily manifested after the first to third doses, with the second dose being the norm [Karampinis E, Gravani A, Gidarokosta P et al. Pustular eruption following COVID-19 vaccination: a narrative case-based review. Vaccines (Basel) 2023; 11: 1298]. We report a distinctive case of new-onset generalized pustular psoriasis (GPP) following the sixth dose of a COVID-19 vaccine in a 77-year-old woman. Our patient presented with a widespread pustular eruption affecting 80% of her body, 3 days after receiving her COVID-19 VidPrevtyn Beta monovalent B.1.351 vaccine (Sanofi). This marked her sixth dose of a COVID-19 vaccine since 2021, with no history of allergy or reactions. Her vaccination history revealed exposure to five different types of vaccines from four different pharmaceutical companies. Notably, this was her first encounter with VidPrevtyn by Sanofi. A clinical diagnosis of GPP secondary to the COVID-19 booster was made, which was supported by histological findings on a punch biopsy. She was commenced on acitretin (10 mg daily) and intravenous piperacillin–tazobactam to cover for skin impetiginization. Initial skin improvement was slow, but antibiotic-induced pancytopenia and renal impairment precluded a switch to ciclosporin. Full-skin clearance was eventually achieved after a few months of acitretin 20 mg, but discontinuation resulted in a recurrence of symptoms. Consequently, the patient continues acitretin 10 mg daily, which is proving effective for control and is well tolerated. The patient was advised against future COVID-19 vaccination and to consider early antiviral treatment for COVID-19 infection if indicated. This case serves as a poignant reminder that despite a cumulative vaccination history, significant cutaneous adverse reactions following the COVID-19 vaccine persist. The Joint Committee on Vaccination and Immunisation advocates for 6-monthly COVID-19 booster vaccines in adults aged ≥ 75 years, with a seasonal booster recommended for those aged ≥ 65 years [UK Health Security Agency. COVID-19: the green book, chapter 14a. Available at: https://www.gov.uk/government/publications/covid-19-the-green-book-­chapter-14a (last accessed 19 April 2024)]. As the landscape evolves with new variants and booster vaccines, there is an escalating potential for reactions, particularly after the first or second dose of the new booster vaccine. Furthermore, our case demonstrated a notable achievement in the effective management of vaccine-induced GPP with acitretin. It is imperative for clinicians to remain vigilant, recognizing that COVID-19 vaccination, while increasingly common, should not falsely reassure based on a negative history of numerous COVID vaccines in the past. Thoroughly assessing vaccination history is essential in clinical practice.
P011 A case report of neonatal lupus erythematosus in a 3-month-old baby
Authors: Ayomikun Odekunle, Raed El-Naes, Ahmed Hawwa
Journal: British Journal of Dermatology (2024)

Abstract Neonatal lupus erythematosus (LE) is an uncommon clinical condition caused by the transfer of anti-Ro/SSA or anti-La/SSB transplacentally from the mother to the fetus (Costa Cascais F, Fraga S, Sousa S, Pinto M. Neonatal lupus: a clinical challenge. BMJ Case Rep 2021; 14: e246590). The incidence of neonatal LE is about 1 in 20 000 live births, with female neonates twice as likely to be affected compared than male (Sukumaran S, Singh D. Cutaneous neonatal lupus erythematosus: a case report. Cureus 2022; 14: e22279). We report a case of neonatal LE in a 3-month-old male infant who presented with multiple annular erythematous lesions on his scalp and feet. A 3-month-old baby was referred by the general practitioner after multiple annular erythematous lesions were noted on his scalp and feet. He was delivered at term via a spontaneous vertex vaginal birth. The APGAR (appearance, pulse, grimace, activity and respiration) score was 9 at 1 min and 10 at 5 min. The birthweight was 3440 g. The mother had routine prenatal care for an uncomplicated pregnancy. The rashes were first observed at 4 weeks after delivery and were treated with co-trimoxazole cream; however, there was no response, which prompted a referral to the dermatology department. The infant was seen physically 3 weeks after the initial virtual review. There were erythematous annular rashes with slightly rolled edges on the scalp and soles of the feet. The remainder of the examination was normal. He was started on hydrocortisone–miconazole cream and reviewed again 6 weeks later, when the rash had faded considerably on the temporal sides of his scalp and resolved completely on his left foot. A differential diagnosis of fungal infection/granuloma annulare/resolving viral infection was considered. However, as the rash did not completely resolve after a further review 3 weeks later, the differential of neonatal LE was considered and screening for neonatal lupus was performed, which came back positive. Antinuclear antibody was positive (titre 360, speckled pattern), and anti-Ro/SSA antibodies were positive. He was prescribed clobetasone cream as treatment. Maternal serology was later checked, revealing anti-Ro/SSA, anti-La/SSB and high-titre antinuclear antibodies. However, the mother was completely asymptomatic. Preliminary cardiac and blood investigations by the paediatrician did not reveal any abnormality. Cutaneous involvement is usually self-limiting, though topical steroids may be needed in some cases. Cardiac involvement should be actively screened for, as pacemakers may be needed for atrioventricular block.