bluuebunny/crossref_metadata_2025_split huggingface dataset:
009 Comparing the number needed to biopsy (NNB) ratio for melanoma diagnosis between teledermatology and face-to-face models of care
Authors: Hussain Khawar , Khalil Nada , Amini Amir , Patel Neil 
Published: June 2023

Abstract
The Elective Recovery Plan, published by NHS England (2022), has advocated that teledermatology (TD) should be available in every service receiving urgent suspected skin cancer referrals. However, evidence supporting the effectiveness of TD for the accurate diagnosis and triage of skin lesions remains limited. A 2018 Cochrane review found variable agreement between TD and face-to-face (FTF) assessment of lesions considered to be of low concern when seen FTF, with remote assessment more likely to recommend intervention (including excision) for low-risk lesions. The number needed to biopsy (NNB) ratio, calculated by dividing the total number of biopsies by the number of biopsied skin cancers, is increasingly used as a metric for the diagnostic accuracy for melanoma detection, with a low ratio suggesting high specificity and vice versa. We undertook a study to compare the NNB ratio for melanoma detection between TD and FTF models for assessing new 2-week-wait (2WW) skin cancer referrals within our service. Over 2019–2020, the service switched over from FTF to a full TD consultant-run model for 2WW referrals. Retrospective analysis of the FTF 2WW model between August and November 2018 identified 53 cases suspicious for melanoma referred for biopsy [30 women and 23 men; median age 44 years (range 27–90)]. Of these, six patients received a histopathological diagnosis of melanoma (NNB 8.8). Retrospective analysis of the TD model between August and November 2022 identified 62 cases suspicious for melanoma triaged directly to a biopsy appointment [37 women and 25 men; median age 49.5 years (range 18–90)]. Of these, three patients received a histopathological diagnosis of melanoma (NNB 20.7). NNB in the TD model was 2.3 times higher than in the FTF model. The NNB of 8.8 in our FTF 2WW model is comparable to a review of 46 studies, which generated an NNB of 7.5 for dermatologists worldwide. The higher NNB of 20.7 for TD indicates poorer diagnostic accuracy for melanoma in this model. The higher NNB in TD is consistent with previous findings that remote assessment is more likely to lead to the excision of low-risk lesions. Further large-scale studies are needed to compare NNB in teledermatology vs. FTF models of skin cancer assessment. TD brings considerable advantages of convenience and increased clinic capacity but may come at a cost of lower specificity for melanoma diagnosis and an increase in the number of biopsies of benign lesions.
CPC04 A rare rupioid rash
Authors: Watson Nicola , Charlton Fraser , Muthiah Siobhan 
Published: June 2023

Abstract
A 59-year-old man was referred to an urgent skin cancer dermatology clinic with a 4-month history of multiple skin lesions on his trunk, arms and face. The lesions were painful, increasing in size, bleeding and oozing serous fluid. The patient reported being otherwise systemically well, with a history of mild eczema and a background of high alcohol intake. On examination, he had a striking rash with numerous large rupioid plaques with thick crusting and surrounding erythema on the trunk and limbs. Smaller plaques were seen on the face and neck. An infective aetiology was favoured with an initial differential diagnosis of ecthyma or atypical mycobacterial infection. A biopsy was taken, as well as screening blood tests. Treponemal antibodies were detected; rapid plasma reagin was reactive (1 : 32), as was Serodia Treponema pallidum particle agglutination test (1 : 1280), suggesting active syphilis infection. His biopsy demonstrated granulomatous inflammation, associated with neutrophils, plasma cells and increased mucin deposition. Immunohistochemical staining for T. pallidum confirmed corkscrew-like organisms within the basal epidermis and upper dermis, consistent with secondary syphilis; screening for concurrent HIV infection was negative. The patient was referred to a local genitourinary clinic for treatment with benzylpenicillin and for full sexual health screening. The word ‘rupioid’ describes oyster or limpet shell-shaped thick keratotic lesions and is derived from the Greek word rhupos, meaning ‘filth’. Differential causes for rupioid lesions include cutaneous T-cell lymphoma, psoriasis, scabies and syphilis. Rupioid syphilis is also termed ‘malignant syphilis’ or ‘Lues maligna’, describing well-demarcated plaques with thick, lamellate and adherent crusts. It is most frequently encountered in HIV-positive patients; in HIV-negative patients, the associated comorbidities are diabetes, alcoholism, drug abuse, psoriasis and hepatitis. Typically, there is rapid clinical improvement once antibiotic treatment is administered, but episodes of Jarisch Herxheimer reaction are reported. Syphilis diagnoses have tripled over the last 10 years, with cases in the heterosexual population rising most rapidly. Dermatologists have a pivotal role to play in diagnosing primary and secondary syphilis, thereby preventing the long-term sequelae of tertiary syphilis and controlling the rising prevalence of the disease in the general population. This case highlights a striking and rare manifestation of secondary syphilis which, once seen, will not be forgotten.
CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Authors: Fostier William , Husain Akhtar , Namini Shirin , Nik-Zainal Serena , Rajan Neil 
Published: June 2023

Abstract
CYLD cutaneous syndrome (CCS) presents during puberty with the development of hair follicle tumours, including cylindromas, spiradenomas or trichoepitheliomas, and is associated with pathogenic variants in the tumour suppressor gene CYLD. Germline pathogenic variants of BRCA2 are associated with an increased risk of breast, ovarian, pancreatic and prostate cancer. Coinheritance of pathogenic variants in both genes has not been previously reported, and here, we present a 29-year-old man with metastatic malignant cylindroma, where knowledge of the germline variants has targetable therapeutic implications. The proband presented with cylindromas on his scalp from the age of 8 years, inherited from his mother who had CCS. The proband’s father and paternal grandmother both had early-onset breast cancer. The proband’s 33-year-old sister had been diagnosed with breast cancer and CCS; genetic testing revealed germline pathogenic variants in both BRCA2 and CYLD. Aged 28 years, the proband presented with a growing, ulcerated cylindroma on the scalp. Histology revealed a biphasic neoplasm, showing malignant cylindroma with high-grade features arising within a pre-existing benign cylindroma. The malignant epithelioid component of the tumour showed brisk mitotic activity (25 mitoses per mm2) and large infiltrative nests with central comedo-type necrosis. Immunohistochemistry showed positivity for epithelial membrane antigen, CK7, p63 and patches of CK5/6, whereas carcinoembryonic antigen, S100 and human melanoma black-45 were negative. Several weeks after excision of the malignant scalp cylindroma, a lump presented on the left side of the patient’s neck; biopsy revealed histology consistent with the malignant scalp cylindroma. Radiological imaging revealed metastatic deposits of malignant cylindroma in the right axilla, both lungs and the brain. Genetic testing of the proband revealed germline pathogenic variants in both BRCA2 and CYLD, as seen in his sister. The patient received radiotherapy for the tumour in his neck, with partial resolution of symptoms and gamma-knife ablation of brain metastases. DNA extracted from the patient’s tumour was analysed using a high-resolution single-nucleotide polymorphism array, which demonstrated loss of heterozygosity including the BRCA2 and CYLD loci. The germline and somatic pathogenic variants in this patient support the use of unlicensed therapeutics that target BRCA deficiency, such as poly-ADP ribose polymerase inhibitors, which have not previously been used to treat malignant cylindroma. This case emphasizes the importance of recognizing coinheritance of tumour suppressor genes in rare genetic conditions, as this can provide novel management options and improve patient outcomes.
P05 A rare presentation of blistering in an adolescent
Authors: Watson Nicola , Charlton Fraser , Hampton Philip , Dubois Anna , Leech Suzy 
Published: June 2023

Abstract
A previously well 16-year-old male presented with florid and widespread tense bullae and erosions. He gave a 2-week history of an erythematous rash consisting of crusted erosions that started on his chest and face. He denied any new medications or over-the-counter preparations. There was no preceding systemic illness, and no history of cold sores or sexual contacts. In the 24 h prior to his admission, his rash had become widespread, involving his trunk, limbs, hands, ears, face, lips, oral and genital mucosa. He had started to feel systemically unwell and was in significant pain. On examination, he had a combination of heavily crusted erosions and extensive tense bullae containing straw-coloured fluid on a background of inflamed skin. The morphology was herpetiform in some areas. There was notable extension of bullae onto the palms and penis, as well as intraoral and labial erosions. Viral skin swabs were negative, and his biopsy subsequently demonstrated subepidermal blistering with neutrophil-rich inflammation and positive direct immunofluorescence (IMF) for C3 and IgG only. Serum autoantibodies were negative. Childhood bullous pemphigoid (BP) was initially the working diagnosis, but indirect IMF showed localization to the base of the blister and anticollagen VII antibodies later proved positive, consistent with a diagnosis of epidermolysis bullosa acquisita (EBA). Given the clinical features, it was classified as BP-like EBA. He was initially treated with high-dose oral prednisolone, superpotent topical steroids and analgesia as an inpatient. Mycophenolate mofetil (MMF) was initiated and his corticosteroid dose was slowly tapered. His condition was completely controlled with MMF 500 mg twice daily at 4 months. The patient then elected to stop taking MMF and remains in complete remission at 7 months. EBA is rare in adults and even more so in children. The mean age of onset is 44–54 years, but up to 5% of reported cases are in children/adolescents. Four subtypes are described: classic mechanobullous, BP-like, mucous membrane pemphigoid-like and linear IgA bullous dermatosis-like. BP-like EBA is characterized by widespread vesicles and tense bullae, commonly on an inflammatory background and lacking skin fragility, scarring or milia. Oral and genital mucosae are frequently affected in paediatric cases of EBA. Various steroid-sparing treatment modalities are described, including dapsone, colchicine and MMF. The prognosis in the paediatric population is favourable compared with that of adults: the majority achieve complete remission or complete control on treatment.
P09 A case of suspected COVID-19 vaccine-induced antiphospholipid syndrome
Authors: Bryan Patrick , Williams Namor , Haebich Geraldine 
Published: June 2023

Abstract
A 50-year-old man presented with an acute onset, painful leg ulcer affecting his right calf. This developed 2 weeks after his second COVID-19 vaccine. It started with a painful erythematous plaque, which evolved slowly into a deep-seated 5-cm ulcer over a 6-week period. A thorough review was unremarkable. He had no significant medical history and was a keen athlete and nonsmoker. His father had an unspecified stroke in his 80s. Examination revealed no signs of chronic venous insufficiency or discoloration to his foot, and his neurovascular examination was unremarkable. Investigations for antineutrophil cytoplasm antibodies, antinuclear antibody, complement, paraprotein, HIV and hepatitis were all unremarkable. Biopsy demonstrated nonspecific inflammatory changes, and wound swabs were unremarkable. Initial treatment with oral antibiotics, regular dressings, compression, topical emollients, Dermovate® and prednisolone (0.5 mg kg−1) was only partially effective. He subsequently developed additional painful superficial erosions and ulcers affecting the same limb involving the calf and shin, with a surrounding erythematous livedoid-like rash involving his shin. Rebiopsy demonstrated superficial and deep dermal and subcutaneous thrombosis without vasculitis. Direct immunofluorescence showed the presence of fibrinogen within dermal vessels. Further investigations demonstrated the presence of lupus anticoagulant. Factor V Leiden, protein C and S, anti-B2-GP1 and anticardiolipin antibodies, antithrombin III, homocysteine and coagulation profile were all unremarkable. Histological confirmation of thrombosis and the presence of serum lupus anticoagulant confirmed the diagnosis of antiphospholipid syndrome (APS). He was started on warfarin and the ulcers improved. APS is a rare autoimmune disorder characterized by recurrent miscarriage, thrombophilia and the presence of antiphospholipid autoantibodies (either serum lupus anticoagulant, anti-B2-GP1 or anticardiolipin autoantibodies). Positivity for APS antibodies can be found in up to 5% of the general population. An individual must have the clinical features and antibody positivity to be diagnosed with APS. The temporal relationship with his second COVID-19 vaccine raises the possibility of vaccine-induced APS. COVID-19 vaccine-induced APS is limited to just a few case reports (Moreno-Torres V, Gutiérrez A, Valdenbro M et al. Catastrophic antiphospholipid syndrome triggered by mRNA COVID-19 vaccine. Clin Exp Rheumatol 2022; 40:1054–5). It is postulated that mRNA vaccines may induce a rare complex immunogenic response characterized by a type 1 interferon reaction. This results in a prothrombotic cascade in individuals with pre-existing APS autoantibody positivity (Talotta R, Robertson E. Antiphospholipid antibodies and risk of post-COVID 19 vaccination thrombophilia: the straw that breaks the camel’s back? Cytokine Growth Factor Rev 2021; 60:52–60).
P10 Blastic plasmacytoid dendritic cell neoplasm: two representative cases
Authors: Taneja Neha 
Published: June 2023

Abstract
Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a malignant proliferation of plasmacytoid dendritic cells, representing &lt; 1% of primary cutaneous lymphomas. It most commonly presents in the skin and has a poor prognosis with median survival of 1 year. The fifth World Health Organization classification of haematolymphoid tumours encompasses two entities in plasmacytoid dendritic cell neoplasms: BPDCN and ‘mature plasmacytoid dendritic cell neoplasm associated with myeloid neoplasm’. We present two cases, one representing each subset. Our first case was a 58-year-old man who presented with an asymptomatic, rapidly progressive, skin coloured-to-ery­thematous and hyperpigmented firm papules, nodules and plaques over the trunk, upper limbs and face of 2.5 months’ duration. This was associated with loss of appetite, loss of weight and leucopenia (2180 cells μL−1). Skin biopsy revealed a grenz zone with pandermal infiltration by large cells with high nuclear : cytoplasmic ratio, vesicular nuclei and prominent nucleoli, and frequent mitotic figures. Immunohistochemistry (IHC) was leucocyte common antigen (LCA)+ but CD3–, CD20–, myeloperoxidase (MPO)– and CD117–. Bone marrow biopsy showed a similar infiltrate of cells, but the peripheral blood smear and flow cytometry was within normal limits. Further IHC was CD4+, CD56+, CD43+ and CD123+, establishing a diagnosis of BPDCN, and the patient was initiated on the Hoelzer protocol with 80% clearance of lesions after two cycles of chemotherapy. The second case was a 60-year-old woman who presented with asymptomatic firm skin-coloured nodules on her scalp, trunk, extremities and oral mucosa, associated with a low-grade fever, fatigability, weight loss, generalized lymphadenopathy and hepatosplenomegaly of 4 months’ duration. Histopathology showed similar features to the first case, with IHC being negative for CD3, CD20, CD138 and MPO. However, cells were LCA+, CD4+, CD56+ and CD43+. Bone marrow showed 77% acute leukaemia blasts with a MPO+ result, establishing diagnosis of acute myeloid leukaemia, suggestive of a mature plasmacytoid dendritic cell neoplasm associated with myeloid neoplasm. To conclude, BPDCN is an aggressive neoplasm that commonly presents in the skin and should be suspected by dermatologists when screening IHC for lymphoid and myeloid cell lines is negative in a suspected case of leukaemia cutis. A panel of CD4/CD56/CD43/CD123 may be used to establish the diagnosis.
P49 Epidemiology of skin cancer by ethnicity in England, 2013–2020: a cohort study
Authors: Ascott Anna , van Bodegraven Birgitta , Ahmed Shehnaz , Harwood Catherine , Proby Charlotte , Sommerlad Mary , Vernon Sally , Welsh Claire , Venables Zoe 
Published: June 2023

Abstract
Skin cancer rates are increasing worldwide and predominantly affect people of white ethnicity. Although less common, skin cancers in people with skin of colour (SOC) are more likely to experience diagnostic delays and higher mortality. High-quality epidemiological data on skin cancers in SOC are limited. SOC and skin phototype are not recorded in registry data; however, the ethnic group can be used as a somewhat limited proxy. The aim of this retrospective national cancer registry cohort study was to describe skin cancer epidemiology by the ethnic group. We identified a cohort of patients diagnosed with skin cancer in England (2013–2020) from the National Disease Registration Service (NDRS). The ethnic group is routinely recorded as self-reported during hospital visits in Patient Administration System and Hospital Episode Statistics datasets collected by the NDRS. We analysed data by the broad ethnic group [White, Asian (excluding Chinese), Black, Chinese, mixed, other, unknown]. We report counts, incidence, stage at presentation (melanoma only), referral pathway, anatomical location and geographical variation. The first basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC) per patient were reported. More cases of skin cancers were diagnosed in Asian ethnicities than in Black and Chinese ethnicities, except for melanoma, which was more frequently diagnosed in Black ethnicities. Of 713 615 BCCs, 571 396 (80.1%) were reported in White, 799 (0.1%) in Asian, 634 (0.1%) in mixed, 413 (0.1%) in Black, 156 (0.02%) in Chinese and 3122 (0.4%) in people of ‘other’ ethnicities; 137 095 (19.2%) were of ‘unknown’ ethnicity. Of 244 072 cSCCs, 225 534 (92.4%) were in White, 609 (0.2%) in Asian, 354 (0.1%) in Black, 279 (0.1%) in mixed, 66 (0.03%) in Chinese and 1137 (0.5%) in people of ‘other’ ethnicity; 16 093 (6.6%) were of ‘unknown’ ethnicity. Of 111 676 melanomas, 102 273 (91.6%) were in White, 199 (0.2%) in Black, 180 (0.2%) in Asian, 125 (0.1%) in mixed, 25 (0.02%) in Chinese and 695 (0.6%) in ‘other’ ethnicities; 8179 (7.3%) were of ‘unknown’ ethnicity. This is the first national study of skin cancer types by ethnicity in England. National datasets allow for the better evaluation of rare subgroups of patients. The main limitation is the high proportion of unknown ethnicity reporting, which is higher for keratinocyte cancers than for other cancers, presumably due to their automated processing and lack of data sources (i.e. inpatient or multidisciplinary team datasets). These data will support a better understanding of unmet clinical needs in underserved populations.
P60 Intralesional steroids vs. liquid nitrogen cryotherapy vs. 595 nm pulsed dye laser in the management of chest keloids: a comparative study
Authors: Shekhar K C , Mishra Aditi , Shrestha Elisha , Pradhan Namrata , Karn Dharmendra 
Published: June 2023

Abstract
Chest keloids often result in cosmetic disfigurement, contractures, pruritus and pain. Inflammatory truncal acne often triggers chest keloid. Management is often challenging as they are relatively resistant to treatment and recurrence rates are high. The objective of the study was to compare the clinical efficacy and safety of intralesional triamcinolone acetonide (40 mg mL−1) vs. liquid nitrogen cryotherapy vs. 595 nm pulsed dye laser in the management of chest keloids. We conducted a comparative prospective study in a total of 42 patients with chest keloids from July 2021 to July 2022. These patients were randomly divided into three treatment groups via the envelope method. The Vancouver Scar Scale (VSS) was used to assess the clinical efficacy of the treatment modality. Patients were scored at the initiation of therapy and every 4 weeks until 16 weeks. Seven patients were lost to follow-up (response rate 83%). Treatment arms consisted of intralesional triamcinolone acetonide (n = 10), liquid nitrogen cryotherapy (n = 11) and pulsed dye laser (n = 14). There was a near-equal sex distribution of chest keloids (male-to-female ratio 1.21 : 1), with 15 patients (35.7%) having additional keloids in other body parts. The mean (SD) age of patients with chest keloids was 27.2 (13.6) years with a common incidence in those aged 20–30 years. Comparison of mean VSS as baseline and at 16 weeks revealed a statistically significant decrease in the score in all three treatment arms (P &lt; 0.05). Comparison between the three different treatment arms revealed pulsed dye laser to be the most effective modality in decreasing VSS at the 16-week follow-up (Anova followed by post hoc analysis with Tukey’s test). With regard to the adverse clinical event profile, acneiform eruptions were reported following steroid injections, blistering and depigmentation were reported following liquid nitrogen cryotherapy, and blistering was reported following pulsed dye laser therapy. Thus, the pulsed dye laser (595 nm) appears to be a safe and efficacious treatment modality in the management of chest keloids.