bluuebunny/crossref_metadata_2025_split huggingface dataset:
P011 A case report of neonatal lupus erythematosus in a 3-month-old baby
Authors: Odekunle Ayomikun , El-Naes Raed , Hawwa Ahmed 
Published: June 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.
P013 Eruptive seborrhoeic keratoses in late-onset constitutional mismatch repair deficiency
Authors: Fostier William , Holt Georgie , Husain Akhtar , Tellez James , Wimmer Katharina , Martin Richard , Burn John , Gallon Richard , Rajan Neil 
Published: June 2024

Abstract
Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive condition typically diagnosed in childhood. It is caused by biallelic inheritance of pathogenic variants within the MLH1, MSH2, MSH6 and PMS2 genes (DNA mismatch repair pathway). It confers a high risk of cancer, with many patients developing brain, gastrointestinal or haematological malignancy in the first two decades of life. The cutaneous features of CMMRD share similarities with neurofibromatosis, with café au lait macules, Lisch nodules, neurofibromas and axillary/inguinal freckling reported. Herein, we report a case of a 31-year-old woman with colorectal polyposis and multiple primary cancers presenting with an eruption of seborrhoeic keratoses (SKs), consistent with the paraneoplastic sign of Leser–Trélat (LTS). Aged 23 years, the proband underwent a prophylactic subtotal colectomy for multiple adenomatous large-bowel polyps. During colectomy, analysis of an enlarged mesenteric lymph node revealed a synchronous diffuse large B-cell lymphoma. This was treated with excision and chemotherapy. When she was aged 24 years, an ampulla of Vater adenoma was excised. Aged 29 years, she developed triple-negative invasive ductal carcinoma of the breast, treated with surgery and chemotherapy. The proband also developed basal cell carcinoma on her forehead and the tarsal edge of her right eye at ages 28 and 31 years, respectively. Her family history revealed that her father died at age 33 years of colorectal cancer, while her mother died at age 60 years due to cerebral haemorrhage. Concurrently to the proband’s breast cancer diagnosis, cutaneous examination revealed widespread small skin-coloured and brown plaques, which were confirmed on biopsy to be SKs in a predominantly acral distribution, with sparing of the trunk. Immunohistochemical assessment of the SKs demonstrated loss of expression of PMS2, with loss of expression also seen in normal perilesional skin. Microsatellite instability (MSI) analysis of peripheral leucocyte DNA revealed high levels of constitutional MSI, indicative of CMMRD. Germline genetic testing revealed compound heterozygous pathogenic variants in PMS2, confirming the diagnosis. LTS is characterized by an eruption of SKs in association with concurrent development of cancers arising from the breast, lung and gastrointestinal tract. A putative mechanism is that tumour-secreted factors, such as epidermal growth factor, drive SK growth. The responsible tumour may be difficult to determine in patients with multiple primary cancers; however, temporally, the breast cancer in our patient was most closely linked to her presentation of LTS. This case emphasizes the importance of recognizing the sign of LTS, a novel feature in the context of CMMRD.
P015 Acne: clues to the mechanism of disease
Authors: Fleming Sarah , Enright Helen , Molloy Kevin , Hackett Caitrionna 
Published: June 2024

Abstract
Acne vulgaris continues to result in a significant psychological and physical burden on patients, mostly occurring at an important time of psychosocial development. We would like to highlight the novel case of a 19-year-old male patient who attended the dermatology department for treatment of nodulocystic acne. On presentation, he had large cystic lesions affecting the forehead, cheeks and neck and abutting the left medial canthus. He had a background history of aplastic anaemia, treated with eltrombopag, antithymocyte globulin and ciclosporin. Unfortunately, the patient developed idiopathic intracranial hypertension (IIH) secondary to treatment with ciclosporin. Due to the severity of his IIH, treatment with isotretinoin was contraindicated. He was commenced on erythromycin 500 mg twice daily along with adapalene gel topically but had a suboptimal therapeutic response. During his care, he was admitted under the haematology team with diffuse abdominal pain and a raised lactate dehydrogenase. He was subsequently diagnosed with paroxysmal nocturnal haemoglobinuria (PNH) and was commenced on biweekly eculizumab infusions. Within 1 month, he noticed a significant improvement in his acne. He was reviewed 3 months later, and his acne was clear, with only a few scattered pustules. The patient continues to report that scattered papules and pustules appear 1–2 days before his biweekly infusions; however, these quickly resolve after infusion. Eculizumab was first approved for treating PNH in 2007 and is a recombinant humanized monoclonal antibody inhibiting complement component C5. In vitro studies investigating the role of the complement pathway were carried out in the 1970s, at which time it was thought that colonizing bacteria can activate the complement pathway through stimulation of the reticuloendothelial system. Both acne and hidradenitis suppurativa (HS) are disorders of follicular occlusion; 23–70% of patients with HS report concomitant acne. Phase IIa/IIb clinical trials of C5a inhibition have shown promise in the treatment of HS. Although the pathogeneses of both acne and HS remain distinct, there have been studies showing positive response to C5 inhibition in patients with acne, supporting the theory that perhaps complement does pay a role in acne development. The authors present this case to highlight the complement pathway as a possible alternative therapeutic target in severe nodulocystic acne.
P016 A case of poikilodermatous plaque-like haemangioma
Authors: Ross Hannah , Motta Luisa , Griffin Liezel 
Published: June 2024

Abstract
An 89-year-old man was found to have an incidental asymptomatic, erythematous, scaly, slightly atrophic plaque on the left hip, measuring 5 × 2.5 cm. The patient reported that it had been present for several years and attributed it to previous radiotherapy for prostate cancer. An incisional biopsy showed histological features of hyperkeratosis, focal parakeratosis and acanthosis, with mild focal spongiosis and scattered intraepidermal lymphocytes with focal Langerhans cell vesicles. Additionally, there was remodelling of collagen in the dermis with proliferation of blood vessels, and perivascular and interstitial infiltrates of lymphoid cells in the superficial dermis. There was no evidence of neoplastic activity, and a reactive or inflammatory process was favoured. Several treatments were trialled including moderate and potent topical corticosteroids under occlusion and pressure-relieving foam dressings, but with no resulting change to the appearance of the plaque. A repeat biopsy was undertaken, which again showed hyperkeratosis, patchy parakeratosis and mild spongiosis. The main abnormality was the presence of a plaque and bandlike proliferation of small thin-walled blood vessels in the upper dermis and upper reticular dermis, which had morphological features reminiscent of postcapillary venules. The findings in the initial biopsy were similar, but much more subtle; subsequently a diagnosis of poikilodermatous plaque-like haemangioma was suggested. Poikilodermatous plaque-like haemangioma was proposed as a newly defined clinical entity by Semkova et al. in 2019 (Semkova K, Carr R, Grainger M et al. Poikilodermatous plaque-like hemangioma: case series of a newly defined entity. J Am Acad Dermatol 2019; 81: 1257–70). This case series identified 16 patients presenting with a solitary atrophic erythematous or violaceous plaque occurring on the extremities or buttocks with an indolent clinical course. The mean age of patients was 72 years, with a male predominance. Duration of lesion, available for 13 patients, confirmed a mean of 2.5 years, and the mean diameter was 5.8 cm. All lesions were asymptomatic. Histology demonstrated a distinctive bandlike proliferation of vascular channels suggestive of postcapillary venules within the superficial dermis. There was also evidence of background fibrosis, oedema and loss of elastic fibres. Awareness of poikilodermatous plaque-like haemangioma is important in differentiation from other dermatological conditions including mycosis fungoides, inflammatory dermatoses, Bowen disease and necrobiosis lipoidica. Histological examination is essential in diagnosis and may prevent unnecessary investigation and treatment.
P018 Puzzling vesicles: a clinicopathological challenge
Authors: Jain Sejal , Bishnoi Anuradha , Dev Anubha , Chatterjee Debajyoti , Mahajan Rahul , De Dipankar , Handa Sanjeev 
Published: June 2024

Abstract
An 8-year-old male child presented with a history of multiple vesicles and bullae on the ear, nose, upper trunk, lower legs and feet for the past 4 years. There was no history of photosensitivity. There was no history of similar conditions in family members. On examination, the child had erosions with haemorrhagic crusting on the above-mentioned sites. The lesions were healing with hypopigmentation and scarring. A few milia-like lesions were seen on the nose and ears. Superficial tiny erosions with haemorrhagic crusting were present on the lip mucosa and tongue. Dystrophy of the left great toe was also noted. Differential diagnoses of Kindler syndrome, porphyria cutanea tarda, bullous pemphigoid and chronic bullous dermatosis of childhood were considered. A 3-mm punch biopsy from the vesicle revealed epidermis with psoriasiform hyperplasia and hyperkeratosis. The upper dermis showed a perivascular and perifollicular lymphomononuclear infiltrate with multiple eosinophils. A perilesional 3-mm punch biopsy was sent for direct immunofluorescence, which revealed at least three IgG linear deposits along the dermoepidermal junction in an N-serration pattern. There were no IgA or IgM deposits. A genetic analysis showed no mutation in the FERMT1 gene. Porphyrin levels in the blood, urine and stool were normal. Based on the histopathology and direct immunofluorescence findings, the patient was diagnosed with childhood bullous pemphigoid. Weight-based azathioprine was started and there was improvement in the lesions within 2 months of initiation of therapy. Bullous pemphigoid is a subepidermal blistering disorder that commonly affects older patients (60–80 years), but it can rarely affect children. It demonstrates considerable clinical and histopathological overlap with other acquired and/or congenital blistering disorders. A high index of suspicion coupled with appropriate investigations are imperative for diagnosis. Histopathology and direct immunofluorescence are more cost-effective. In a limited-resource setting, this can eliminate the need for more expensive tests, such as genetic analysis.
P019 Cutaneous amyloidoma: a rare variant of primary cutaneous marginal zone lymphoproliferative disorder
Authors: Fleming Sarah , Brennan Shane , Molloy Kevin 
Published: June 2024

Abstract
A 71-year-old male patient presented to the dermatology department with a nontender erythematous nodule on the left arm. Incisional biopsy illustrated a dermal-based perivascular plasma-cell infiltrate with kappa-light chain restriction. There was also marked deposition of dermal amorphous eosinophilic material, with similar amorphous material deposition within vessel walls. Apple green birefringence under polarized light with Congo red staining was observed. Review at the UK National Amyloidosis Centre concluded that this was consistent with cutaneous amyloid-L (AL) amyloidosis. A bone marrow trephine and PET-CT ruled out systemic involvement. The patient was listed for surgical resection and monitored clinically by the dermatology and haematology teams. Amyloidosis represents a spectrum of disease including systemic and localized cutaneous subtypes. There is much discussion regarding the nosology of AL amyloidosis; however, there is consensus among clinicians, who consider cutaneous amyloidoma to be a rare variant (&lt; 1%) of primary cutaneous marginal zone lymphoproliferative disorder. Cutaneous amyloidoma presents as small waxy nodules and/or plaques usually located on the extremities, and is histologically characterized by prominent amyloid deposition and few perivascular plasma cells. Surgical excision is the treatment of choice. AL amyloidosis presents in an older population and has a more indolent clinical course compared with the systemic subtype, leading to the proposal that cutaneous amyloidosis (AL type) may represent a precursor to the systemic process. Although progression to high-grade lymphoma or systemic amyloidosis is rare, it is recommended that patients undergo staging of the disease, eradication of the cutaneous disease and close clinical follow-up. Classification of cutaneous AL amyloidosis is hindered by its rarity; however, the authors hope that this case will add to the growing literature available on the condition.
P022 A case of cutaneous plasmacytosis occurring in a patient with pulmonary adenocarcinoma
Authors: Teoh Joelle , Gan Alex , Elsheikh Somaia , Tang Ting Seng 
Published: June 2024

Abstract
A 43-year-old woman of Japanese origin presented with a 4-year history of a slow-spreading rash over her face, torso and legs. This consisted of symmetrical hyperpigmented nodular lesions, which were asymptomatic and persistent with no identifiable triggers. Apart from iron-deficiency anaemia, she was otherwise fit and well, with an unremarkable family history. Examination revealed a widespread hyperpigmented erythematous rash distributed symmetrically across the back, with multiple smaller lesions over the face, axilla, torso and legs. Routine biochemistry was unremarkable apart from low ferritin level. Electrophoresis and IgG subclass analysis showed a mildly raised IgM, but was otherwise unremarkable. Investigations for HIV, hepatitis, syphilis and chlamydia were unremarkable. Histopathology showed a mild to focally moderate perivascular and minimally interstitial mononuclear cell infiltrate in the superficial and deep dermis. The infiltrate consisted of lymphocytes, histiocytes and particularly large numbers of CD20+ plasma cells. There was no cytological atypia, with most of the plasma cells expressing IgG. Kappa and lambda in situ hybridization showed a polytypic population of plasma cells. Subsequent imaging studies detected a lung nodule, which was later surgically excised and confirmed to be a pulmonary adenocarcinoma. There was no evidence of significant lymphadenopathy to suggest Castleman disease or lymphoma. Cutaneous plasmacytosis (CP) is a rare skin disorder characterized by multiple reddish-brown nodules with polyclonal plasma-cell proliferation, usually accompanied by a polyclonal hypergammaglobulinaemia. CP is seen predominantly in Asian populations and commonly affects the trunk, particularly the axillae, but can also involve the face and extremities. The pathogenesis of CP remains poorly elucidated; however, existing evidence indicates that an aberrant production of interleukin-6 might be a cause. Histopathology typically shows perivascular and periadnexal mature, polytypic, plasma-cell-rich infiltrate in the superficial and deep dermis. Treatment modalities such as topical and systemic corticosteroids, topical tacrolimus, systemic chemotherapy, cyclophosphamide, psoralen plus ultraviolet A (PUVA) phototherapy and radiotherapy have been used, with varied response. In our patient, topical and systemic corticosteroids did not result in significant improvement, and further PUVA phototherapy has been planned.
P031 Experience from a UK dermatology regional virtual biologics and high-cost drugs multidisciplinary team
Authors: Katira Arnav , Ramsay Helen 
Published: June 2024

Abstract
There are over 20 biologics and high-cost drugs (BHCD) in routine use in dermatology in the UK, each associated with NICE technology appraisals and local guidelines, and there are more emerging. This, coupled with increasing clinical complexity, can make individual decision making challenging. In January 2021 a fortnightly BHCD multidisciplinary team (MDT) was initiated to support clinical practice and audit. Meetings are held virtually on a fortnightly basis using Microsoft Teams and are attended by dermatology consultants, trainees, specialist nurses and a biologics coordinator. Regional colleagues join to discuss patients needing a supraspecialist view (e.g. fourth or more BHCD) and to support shared care service level agreements for NHSE specialized commissioned drugs (e.g. adalimumab for hidradenitis). We work to locally agreed pathways, incorporating NICE standards. Between January 2021 and December 2023 there were 632 case discussions (106 in 2021, 250 in 2022, 276 in 2023) comprising psoriasis (n = 318), atopic eczema (n = 246), hidradenitis suppurativa (HS; n = 64) and other (n = 4). Examining outputs and outcomes from 2022, we discussed 250 cases (133 psoriasis, 92 atopic eczema, 22 HS, 3 other) and demonstrated 100% compliance with local and national standards for the cases of eczema and psoriasis. There was 100% compliance with national standards and 93% compliance with local standards for HS. This collaborative approach to decision making in a virtual MDT for BHCD has supported clinical practice, improved adherence to guidelines and reduced the time needed to undertake audits for individual drugs. A regional ‘hub and spoke’ arrangement for NHSE-commissioned drugs has supported care closer to home. The MDT further supports cost-effect­ive practice (e.g. drug choices, sequencing and Blueteq submission via the coordinator), research (e.g. recruitment into national registry studies), continuing professional development, teaching and training, and provides MDT support for individual funding applications.
P034 Using artificial intelligence to bridge the technical gap in dermatology: the role of large language models in creating an interactive Fitzpatrick skin phototype assessment
Authors: Zeina Mohamad , Zeina Bassam , Nachev Parashkev 
Published: June 2024

Abstract
Patient engagement is evolving with the advent of digital tools such as interactive websites and artificial intelligence (AI), yet significant barriers remain in the technical expertise required to create tools that benefit patients. We explore how large language models (LLMs), a type of AI that can facilitate and accelerate programming tasks, can enable clinicians and researchers to create interactive web-based patient engagement tools without the need for a dedicated web developer. We explore this possibility by developing, with the help of an LLM, an interactive skin self-assessment web tool. We used GPT4, a state-of-the-art LLM, as a web development assistant, and created an interactive JavaScript web page that guides patients through the Fitzpatrick skin phototype questionnaire. This involved building a minimal version first, and iteratively improving it. The web page initially asked the user the first two questions of the assessment, calculated a score, and returned this to the user. Once the code written by GPT4 was tested and shown to work, the tool was gradually improved to include all questions in the Fitzpatrick scale, and the result was modified to provide not only the total score, but also the result category. GPT4 allowed us, with no experience writing interactive JavaScript web pages, to develop and launch a web page that guides patients through a Fitzpatrick scale assessment. When GPT4 was asked to expand the questionnaire from two questions to the whole test, it gladly did so; however, the questions were not accurate. It then had to be given the specific wording of the questions and answers for the test, which it incorporated into functioning JavaScript code. This had to be performed in stages, adding two questions at a time, due to context limitations at the time. When this introduced issues, such as the code breaking or the website style looking inconsistent, GPT4 was able to fix these issues when they were described to it. Since the web page’s launch in March 2023, the web page has been viewed 1875 times by 1419 unique users. This study demonstrates one way that LLMs can be used to enhance patient engagement in dermatology, by facilitating the creation of interactive skin assessments with utility in many dermatology settings. Hallucination remains a problem, and any created tools must be thoroughly verified for factuality. Although no authors had any experience writing interactive JavaScript, they have coding experience elsewhere, and future work should assess whether similar results can be achieved by a broader user base. Two authors received funding from a commercial organization for this work (A & Z Dermatology Clinic Ltd).