bluuebunny/crossref_metadata_2025_split huggingface dataset:
O04 How useful is chest X-ray in addition to routine QuantiFERON® in the detection of latent tuberculosis prior to biologics?
Authors: Kearney Niamh , Aslam Fawad , Boyd Grace , Boylan Natasha , Laverty Emma , O’Hare Rosie , Campbell Victoria , Hoey Susannah , O’Kane Donal 
Published: June 2024

Abstract
The British Association of Dermatologists (BAD) 2020 psoriasis biologics guidelines recommend routine screening for latent tuberculosis infection (LTBI) prior to treatment, using a QuantiFERON®/interferon-gamma-releasing assay (IGRA), with consideration of local policy on additional screening using chest X-ray (CXR). QuantiFERON® is highly sensitive (approximately 96%) in detecting LTBI, while CXR is both poorly sensitive and poorly specific. CXR is included as a baseline test on the BAD biologics 2014 checklist followed in our trusts. Northern Ireland has the lowest annual incidence of tuberculosis in the UK. The aim of this study was to assess the utility of routine CXR in addition to IGRA before commencing biologics. Patients in two of the five trusts in Northern Ireland receiving biologics that require LTBI screening were identified using trust dermatology biologics databases. Electronic records were reviewed, collecting information on demographics, CXR and IGRA results, and respiratory clinic outcomes. We identified 995 patients, 528 male (53.1%) and 467 female (46.9%), with a mean age of 49.2 years. In total, 685 patients had an IGRA, with 16 of 685 positive (2.3%) and 4 of 685 indeterminate (0.6%). In the four patients with an indeterminate result, just one had a subsequent positive IGRA (0.1%). Overall, 949 patients had a CXR, with 83 of 949 (8.7%) noted to have any abnormality. Twenty-six patients (2.7%) required follow-up imaging, including CXRs (n = 13), computed tomography (n = 10) and echocardiograms (n = 3). Just eight patients had features suggestive of TB on CXR (0.8%). When the χ2-test was used, patients were just as likely to have an abnormal CXR if they had a positive (1 of 16, 6%) or negative IGRA (59 of 666, 8.9%; P = 0.93). Twenty-three patients were referred to the respiratory clinic with a positive IGRA or CXR (2.3%), with 20 patients treated for LTBI (2.0%). Three patients were treated on the basis of a CXR result (0.3%), including two patients without an IGRA and one patient with a negative IGRA. Tuberculosis is uncommon in our dermatology population in Northern Ireland, with just 2% of patients in two trusts treated for LTBI prior to commencing a biologic. QuantiFERON® is a highly sensitive test, detecting LTBI in 1.7% of 665 patients tested in this study. CXR, in contrast, identified changes suggestive of LTBI in 0.8%, with 8.3% noted to have another incidental finding, resulting in a burden of additional imaging requirements. Routine CXR in this cohort did not provide additional diagnostic value in the detection of LTBI. QuantiFERON® alone could be considered sufficient for screening.
O06 Abatacept efficacy in severe refractory morphoea: experience from a specialized centre
Authors: Watts Sophia , Gardette Emma , Orteu Catherine 
Published: June 2024

Abstract
Our aim was to evaluate the efficacy and safety of abatacept in the treatment of severe refractory morphoea. We conducted a single-centre prospective cohort study at a national specialized scleroderma centre treating adult patients with morphoea. The patients included had severe disabling generalized plaque, pansclerotic or linear morphoea. Abatacept was started after failure of at least two standard systemic immune-modifying therapies (SIMTs), including intravenous and/or oral corticosteroids and methotrexate (MTX), mycophenolate mofetil (MMF), ciclosporin and hydroxychloroquine. Patients on abatacept were assessed at baseline and 6 and 12 months, employing validated scores: the Localized Scleroderma Cutaneous Assessment Tool (particularly the modified Localized Scleroderma Skin Severity Index, mLoSSI) to assess disease activity, and Dermatology Life Quality Index (DLQI) and Hospital Anxiety and Depression Scale (HADS) to assess disease impact. In total 30 patients, all female, with a median age of 57 years (range 22–84) are currently receiving abatacept: 18 patients for ≥ 6 months and 16 for ≥ 12 months. Of these, 57% have pansclerotic morphoea. Patients had not responded to oral and/or intravenous corticosteroids in all cases, and an average of 2.4 other SIMTs, most frequently MTX (93%) and MMF (70%). At abatacept initiation, 47% of patients continued on oral prednisolone, and 13% received intravenous pulsed prednisolone. Most patients (29 of 30) continued a maintenance SIMT, 23% of patients received concomitant MMF, 37% received MTX and 20% received both MTX and MMF. At 6 months, 15 of 18 patients had available data and the median improvement in mLoSSI was 37.7%; at 12 months, all patients had available data and the median improvement was 49.1%. The mean DLQI was 17.4 at baseline, 15.1 at 6 months and 12.4 at 12 months. The mean HADS anxiety score was 10.1 at baseline, 9.3 at 6 months and 8.2 at 12 months; the mean depression score was 9.6 at baseline, 9.3 at 6 months and 10 at 12 months. Three patients (10%) discontinued abatacept: two due to early side-effects in the first 3 months and one due to plateauing of response in very severe disease. There were no serious adverse events. Abatacept appears to be an effective and safe option for severe refractory morphoea. The high DLQI and HADS scores reflect the significant psychosocial impact of the disease and tend to remain high despite significant clinical improvement. A 2-year follow-up is now needed as the disease is slow to reverse and continuing improvement was observed at 1 year.
O13 42 590 fewer skin tumours diagnosed in England during the 2020 COVID pandemic: greatest reductions in melanoma in situ, stage I melanomas and basal cell carcinomas
Authors: Srimudkul Omsin , Venables Zoe C , Levell Nick J , Mistry Khaylen , Van Bodegraven Birgitta 
Published: June 2024

Abstract
During the early COVID-19 pandemic, there was a decline in most cancer diagnoses. The aim of this study was to ascertain the extent and impact of this on skin cancer subtypes in England. This national retrospective cohort study identified all skin tumour cases diagnosed in 2019 and 2020 in England from the National Disease Registration Service ‘Get Data Out’ project. Incidence rate ratios (IRRs) with 95% confidence intervals (CIs) and Poisson regression analysis were used to compare crude incidence rates (CIR) per 100 000 person-years (PY) in 2020 vs. 2019. In 2019, there were 233 717 skin tumours registered in England; this reduced to 191 127 (IRR 0.81, 95% CI 0.80–0.81, P &lt; 0.001) in 2020. A year prior to the pandemic, there were 15 355 (CIR 27.3 PY) melanomas, 7135 (CIR 12.7 PY) melanomas in situ, 48 112 (CIR 85.5 PY) cutaneous squamous cell carcinomas (cSCCs), 159 178 (CIR 283 PY) basal cell carcinomas (BCCs) and 363 (CIR 0.65 PY) Merkel cell carcinomas (MCCs). When comparing incidence rates for 2020 vs. 2019, significant reductions (P &lt; 0.001) were seen in all tumours except MCC: melanoma (IRR 0.81, 95% CI 0.79–0.83), melanoma in situ (IRR 0.65, 95% CI 0.63–0.68), cSCC (IRR 0.94, 95% CI 0.93–0.96), BCC (IRR 0.78, 95% CI 0.78–0.79) and MCC (IRR 0.93, 95% CI 0.80–1.08). For melanoma by stage, there were 8940 (CIR 22.6 PY) stage I, 2441 (CIR 6.18 PY) stage II, 1004 (CIR 2.54 PY) stage III, 385 (CIR 0.97 PY) stage IV and 2187 (CIR 5.53 PY) stage ‘unknown’ in 2019. The IRR for 2020 vs. 2019 showed significant reductions (P &lt; 0.001) for stage I (IRR 0.76, 95% CI 0.73–0.78) and stage ‘unknown’ melanomas (IRR 0.67, 95% CI 0.62–0.71), while changes were not significant for all other stages. During the 2020 COVID pandemic, there was a 19% reduction in diagnosed skin tumours in England. There was a differential impact between tumour types and stages, with the greatest reduction seen in melanoma in situ (−35%), stage I melanoma (−24%) and BCC (−22%), compared with MCC (−7%), cSCC (−6%) and stage II+ melanoma (+2%). The improvement to staging data in 2020 (−33% ‘unknown’ stage melanomas) limits interpretation, but these account for &lt; 15% of cases of melanoma. It is hypothesized that symptomatic and slow-growing tumours were not prioritized by patients and/or clinicians, potentially resulting in worse patient outcomes and increased burden on health services. This indicates a need for more time to study the impact of delayed diagnosis on survival, better public education on skin cancer recognition, and improved service provision during national emergencies.
Clinicopathological CasesCPC01 An unexpected infection in dermatology outpatients: cutaneous diphtheria
Authors: Wells Helena , Hague Joanne , Roberts Claudia 
Published: June 2024

Abstract
A 29-year-old asylum seeker presented to the emergency department with abdominal pain and a 1-month history of bilateral crusted plaques on his shins, associated with night sweats and lethargy. On examination he had multiple crusty erythematous plaques on the lower limbs, with some scattered pustules. Full-body examination was otherwise normal, except for multiple palpable inguinal lymph nodes bilaterally. Investigations revealed normal bloods and also included chest X-ray, urinalysis and computed tomography of the urinary tract. A dermatology referral was made, and differentials included ecthyma, atypical mycobacterial infection, fungal infection, or an iatrogenic cause with secondary infection. The patient was planned for multiple punch biopsies to be sent for haematoxylin and eosin staining, and tissue and mycobacterial culture. Unfortunately, a skin swab was rejected. A punch biopsy sent for culture surprisingly demonstrated the growth of a Gram-positive rod, identified as Corynebacterium ­diphtheriae, which was toxin gene positive. Histology showed a vesicopustule within the stratum corneum and upper epidermis containing neutrophils. The patient was diagnosed with cutaneous diphtheria. Cutaneous diphtheria is the most common nonrespiratory manifestation of the disease and can occur as a primary infection or in a pre-existing wound (Rahim NRA, Koehler AP, Shaw DD, Graham CR. Toxigenic cutaneous diphtheria in a returned traveller. Commun Dis Intell Q Rep 2014; 38: E298–300). It presents with shallow rolled-edged ulcers with a grey membrane at any skin site, including the genitals. It is reported that diphtheria is most contagious in its cutaneous form, where ulcers act as a reservoir for infection, which can be spread via wound manipulation (de Benoist A, White JM, Efstratiou A et al. Imported cutaneous diphtheria, United Kingdom. Emerg Infect Dis 2004; 10: 511–13). Prior vaccination does not prevent infection but stops systemic symptoms. Although rare, cases of cutaneous diphtheria are increasing in the UK, especially in asylum seekers. This case was identified by the dermatology department, which can be the location of first presentation. Lesions are clinically indistinguishable from other cutaneous infections, and so diphtheria must be considered as a differential in high-risk individuals. Vaccination does not prevent infection, but merely reduces the severity of the disease course. This can have important implications for staff safety if not recognized early, as in our case multiple exposed members of staff were required to isolate, take prophylactic antibiotics and receive a booster vaccination following exposure.
CPC09 Two cases of late-onset dystrophic epidermolysis bullosa COL7A1 mutations
Authors: O’Higgins Lisa , Hynes Jason , Grechin Cristina , Hudson Andrew , Roche Muireann , O’Kane Marina 
Published: June 2024

Abstract
Epidermolysis bullosa pruriginosa (EBP) is a highly distinctive phenotype of dystrophic EB (DEB). It is characterized by pruritic hypertrophic papules, nodules and plaques usually on the lower extremities. Clinical findings are caused by mutations in the COL7A1 gene on chromosome 3p21.3, which encodes type VII collagen. It is a rare condition that was first described in the literature in 1994 in a series of eight cases (McGrath JA, Schofield OM, Eady RA. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617–25). The condition usually presents in the neonatal period, during adolescence or early adulthood. There are &lt; 100 documented cases to date (Kim WB, Alavi A, Pope E, Walsh S. Epidermolysis bullosa pruriginosa: case series and review of the literature. Int J Low Extrem Wounds 2015; 14: 196–9). Here, we present two cases of late-onset EBP. Case 1 is a 72-year-old woman with a 20-year history of a recalcitrant, pruritic violaceous eruption on her lower legs. Findings on biopsy were nonspecific, showing hyperkeratosis, mild epidermal spongiosis with a subepidermal split devoid of inflammatory cells. There was vascular proliferation in the superficial dermis and surrounding perivascular inflammation with an inflammatory infiltrate comprising lymphocytes, histiocytes and plasma cells. Differential diagnosis included venous stasis or DEB. Genetic sequencing was performed, revealing heterozygosity for a COL7A1 c.6007Gly&gt;Arg mutation, confirming a diagnosis of autosomal dominant EBP. Case 2 is a 60-year-old woman who presented with pruritic coalescing nodules and papules. These had appeared initially on the buttocks and occipital scalp and subsequently developed on her wrists, elbows and lower legs. Hyperkeratotic toenails and a pincer nail on her left thumb were noted. A biopsy taken from her right thigh showed hyperkeratosis with acanthosis, and sub­epidermal cleavage containing mixed inflammatory cells. Genetic sequencing confirmed the heterozygous mutation IVS107–2delA in the COL7A1 gene, consistent with a variant of dystrophic EB highly suggestive of EBP. Both patients’ symptoms responded to dapsone. To our knowledge these mutations have not been reported elsewhere in the context of EBP. We highlight the potential for late onset of this rare condition, novel genetic mutations, and the role of genetic testing in situations of clinical uncertainty.
CPC13 BRAF mutated and morphologically Spitz naevi and tumours: a series of four cases
Authors: Daruish Maged , Goodyear Helen , Lemahieu Julie , Taibjee Saleem 
Published: June 2024

Abstract
The current World Health Organization classification of skin tumours (5th edition) indicates that melanocytic tumours of the Spitz pathway can be defined by mutually exclusive oncogenic drivers, including HRAS-activating mutations or kinase fusions. Accordingly, the term ‘spitzoid’ has been suggested for tumours that show morphological features of Spitz tumours but lack these defining molecular aberrations. Such neoplasms harbouring BRAF or NRAS mutations include a subtype of melanomas with confirmed risk of local recurrence and metastasis. In contrast, a recent study described a subset of Spitz-looking neoplasms with BRAF mutations and insufficient criteria for melanoma (Zhao J, Benton S, Zhang B et al. Benign and intermediate-grade melanocytic tumours with BRAF mutations and Spitzoid morphology. Am J Surg Pathol 2022; 46: 476–85). The term BRAF mutated and morphologically spitzoid naevi/tumours (BAMS) was proposed for such lesions. We present a series of four cases of BAMS. The patients ranged in age from 3 to 40 years; three were male and one was female. The clinical history varied from new growing moles to change within long-standing lesions, congenital in one instance. One lesion was submitted with the query of halo naevus. Anatomical sites included the abdomen, pubis, right buttock and left upper back. In one of our cases the clinical appearance, including starburst pattern on dermoscopy, was very suggestive of a pigmented Spitz naevus. All cases showed a predominantly epithelioid cytomorphology with accompanying melanophages. The cytoplasmic pigment was prominent in three cases. Three of the neoplasms were compound, with evidence of maturation with depth. The case described clinically as a changing congenital lesion had a mild degree of cytological atypia, a single superficial mitosis and focal PReferentially expressed Antigen in MElanoma positivity. In this case there was bridging of nests and lamellar fibroplasia, indicating overlapping features with Clark dysplastic naevus. Three cases had Kamino bodies. Immunostaining for BRAF V600E was positive in all cases. Overall, the histological findings in our cohort are in concordance with those reported by Zhao et al. Interestingly, BRAF mutations were also identified in another study of ‘Spitz naevi’, likely representing BAMS (Fullen DR, Poynter JN, Lowe L et al. BRAF and NRAS mutations in spitzoid melanocytic lesions. Mod Pathol 2006; 19: 1324–32). Further studies are necessary to characterize the BAMS group, including long-term follow-up. Recognition of this group of tumours is important to avoid melanoma overdiagnosis in the advent of ancillary immunohistochemistry and molecular testing in determining melanocytic lineage in day-to-day practice.
P004 Morphoea in a patient with clear cell renal cancer and lung metastases
Authors: Palaiologos George , Mavrogiorgos Anastasios 
Published: June 2024

Abstract
Morphoea (localized scleroderma) is an autoimmune fibrotic skin disease with an estimated prevalence of 200 per 100 000. Although the pathogenesis remains unknown, the disease is characterized by an initial T-cell-mediated inflammatory phase followed by localized fibrosis of the skin. Most cases of morphoea in patients with cancer occur after radiation therapy (65%), chemotherapy (8.5%) or immunotherapy–immune checkpoint inhibitor (ICI) therapy (5.7%). In two-thirds of cases of morphoea in patients with cancer, the mean time to onset of morphoea is 3.2 years after radiation, 1.7 years after chemotherapy, and 8 months (rapid manifestation of morphoea) after ICI immunotherapy. We present the case of a 65-year-old male patient with a history of clear cell renal carcinoma, who underwent surgical removal of his right kidney 5 years previously. Two years postoperatively, he developed a metastatic nodule in the right upper lobule of his lung. The patient was under treatment with pazopanib 800 mg per day for 15 months. Pazopanib is a tyrosine kinase inhibitor that blocks tumour growth and inhibits angiogenesis. The metastatic nodule disappeared but a new one appeared (computed tomography and magnetic resonance imaging). While the second metastasis remained stable and the patient was not undergoing any treatment, he developed the typical skin lesions of morphoea, with numerous sclerotic, or atrophic lesions with lilac ring, 2.5 years after the cessation of pazopanib. The diagnosis was confirmed by biopsy and he is currently under topical treatment with cortisone and calcineurin inhibitors. To date, several studies have reported sudden development of morphoea either before or after a brief interval following the diagnosis of malignancy. Scleroderma is characterized by immunological dysregulation, vasculopathy and hyperproduction of the extracellular matrix by activated fibroblasts. Endothelial inflammatory and mesenchymal cells produce cytokines, growth factors (interleukins 1 and 6 and tumour necrosis factor-α), connective tissue growth factor, and basic fibroblast growth factor. In our case study, we examined a patient with a localized type of scleroderma (morphoea) without confirming the markers for systemic involvement. Morphoea developed 5 years after the diagnosis of clear renal cell carcinoma and 2.5 years after the cessation of pazopanib – a tyrosine kinase inhibitor – so it should be considered a paraneoplastic phenomenon rather than a secondary effect of pazopanib cancer therapy.
P005 Painful palmar papules: a rare variant of a familiar dermatosis
Authors: Santhosh Parvathy , George Mamatha , Rajiv Shwetha V , Nandakumar Gopalapillai 
Published: June 2024

Abstract
A 52-year-old man presented with painful lesions over the palms for 10 days, associated with low-grade fever. The lesions were exquisitely painful and affected his activities of daily living. He had type 2 diabetes mellitus, managed with metformin and glimepiride. On examination, multiple, discrete, erythematous, tender papules of size 0.3 × 0.3 cm to 1 × 1 cm over both palms were noted. The fingertips were erythematous and tender. Blood investigations were unremarkable, except for a blood glucose level of 19.5 mmol L−1. Skin biopsy showed hyperkeratosis, spongiosis and dermal elastosis with necrobiotic collagen surrounded by histiocytes and lymphocytes, with occasional foreign-body giant cells. Alcian blue stain revealed abundant mucin deposition. A diagnosis of acute-onset painful acral granuloma annulare was made. He was treated with potent topical corticosteroids along with anti-inflammatory medications. The lesions subsided fully within 8 weeks, with residual peeling of skin. Granuloma annulare (GA) classically presents as asymptomatic to mildly pruritic, localized clusters of small papules that coalesce into annular and arciform lesions. The common variants are localized GA, generalized GA and subcutaneous GA. Perforating GA and patch-type GA are unusual. Palmoplantar, Blaschko linear, pustular and visceral variants are considered extremely rare. Although hands and feet are common sites of granuloma annulare, lesions of the classical type occur on the dorsal surfaces. Acute-onset acral painful GA is considered a rare and distinct variant, characterized by the sudden eruption of tender papules on the hands and/or feet, with or without scattered lesions on other sites. There may be associated systemic features like fever, malaise, arthralgia and diarrhoea, with elevated inflammatory markers. The condition was first described as a separate entity in 2006 (Brey NV, Malone J, Callen JP. Acute-onset, painful acral granuloma annulare: a report of 4 cases and a discussion of the clinical and histologic spectrum of the disease. Arch Dermatol 2006; 142: 49–54). Subsequently, there have been a few other reports. Histology of GA shows an interstitial or palisading pattern of granulomatous inflammation with collagen degeneration and mucin deposits. The more common interstitial pattern shows upper and mid-dermal histiocyte collections, scattered between and around collagen bundles and vessels. In the palisading pattern, a central zone of necrobiotic collagen is surrounded by palisading histiocytes. Treatments reported to be effective in acute-onset painful acral GA include topical, intralesional and systemic steroids and hydroxychloroquine. Painful lesions, palmar lesions and systemic features are unusual in GA. Associated systemic features and deranged blood parameters might prompt unnecessary investigations. Hence, the significance of clinicopathological correlation in the diagnosis of this entity needs to be emphasized.