bluuebunny/crossref_metadata_2025_split huggingface dataset:
P01 Severe adult-onset inflammatory disorder with associated UBA1 somatic mutation
Authors: Vetsiou Evangelia , Smith Steve , Forde Karina , McDonald Sarah , Brian Duncan , Khoo Andre 
Published: June 2023

Abstract
A 70-year-old man was admitted to the hospital with a 2-week history of fatigue, florid erythematous maculopapular rash, elevated inflammatory markers and thrombocytopenia. A skin biopsy was performed that showed features in keeping with Sweet syndrome, which was initially thought to relate to concurrent gastrointestinal sepsis. The patient was commenced on oral prednisolone 30 mg daily. His rash and inflammatory markers improved, but his ferritin levels remained elevated. Within 1 month, he presented again with a widespread rash comprising tender and erythematous nodules. Serial computed tomography did not reveal an underlying malignancy. The patient was referred to haematology for consideration of a bone marrow biopsy, which showed hypercellular marrow with active trilineage haematopoiesis, and dysplastic changes in granulocytes and megakaryocytes. Molecular analysis showed a characteristic UBA1 p.(Met41Leu) mutation, which confirmed a diagnosis of VEXAS syndrome. He was considered for treatment with tocilizumab, but his skin symptoms responded well initially to oral steroids and, later, dapsone. He remains asymptomatic on dapsone. VEXAS syndrome is an autoinflammatory condition, first described in 2020, that results in a constellation of inflammatory and haematological manifestations due to a somatic mutation in UBA1 on the X chromosome. It can affect the skin, cartilaginous structures, lungs, joints and vasculature, as well as the haematopoietic cells. Patients with this condition have only been partially responsive to treatment, with high doses of corticosteroids showing the most consistent benefit of all the modalities tried thus far. The prognosis is poor and diagnosis is usually delayed. To date, relatively little is known about the dermatological manifestations of VEXAS syndrome. These are usually characterized by neutrophilic dermatoses or vasculitis. More recent studies have shown that skin involvement is associated with clonal infiltration of the skin rather than a general proinflammatory activation. This suggests that therapies that target the pathological clone, as well as the proinflammatory milieu, such as steroids and Janus kinase inhibitors, may be useful. However, further studies and trials are required to understand how to best cure the disease.
P07 Not just simple hand eczema: a case of Jo-1-positive antisynthetase syndrome (‘mechanic’s hands’)
Authors: Al-Tameemi Ahmed , Elyoussfi Sarah , El-Naes Raed 
Published: June 2023

Abstract
Antisynthetase syndrome is a rare inflammatory muscle disease related to dermatomyositis and polymyositis. Anti-Jo-1 antibodies are the most detected antibodies in antisynthetase syndrome. The main clinical features of antisynthetase syndrome are myositis, polyarthritis, interstitial lung disease, mechanic’s hands and Raynaud phenomenon. A 50-year-old man with a background of inflammatory muscle disease and interstitial lung disease, for which he is under the care of respiratory and rheumatology teams, was referred to the dermatology department by his general practitioner with refractory xerotic dry fissured skin on his fingers and feet. He reported itchy, sore and painful dry, cracked skin on both his hands, mainly on the fingertips. It did not affect the rest of his body. He trialled potent topical steroids and emollients, but his condition did not improve. He was on a reducing course of prednisolone 15 mg daily and on long-term oxygen therapy at home for interstitial lung disease. On clinical examination, he had an eczematous-looking eruption. The appearance of his hands was in keeping with ‘mechanic’s hands’. Together with the underlying diagnosis of interstitial lung disease, a diagnosis of antisynthetase syndrome was suspected. Blood tests revealed a fibrinogen of 5.39 g L−1 [reference interval (RI) 1.50–4.50], lupus creatine kinase of 1591 IU L−1 (RI 40–320), positive antibodies to Ro (SS-A) and positive antibodies to Jo-1. Jo-1 antibodies are found in dermatomyositis or polymyositis. Ro antibodies are associated with Sjogren syndrome (primary or secondary) or systemic lupus erythematosus, and serum may be antinuclear antibody negative. Therefore, we suspected a diagnosis of antisynthetase syndrome. A patch test showed a positive reaction to nickel, which was deemed to be in keeping with antisynthetase syndrome hand eruption, or ‘mechanic’s hands’. The patient was commenced on mycophenolate, a low dose of acitretin 10 mg and emollients and reported a significant improvement in symptoms. Repeat blood tests were scheduled for 3 months, including lipid profile and liver function test, for monitoring purposes. A follow-up was arranged for 12 weeks. He had a background of recurrent hospital attendance with pericardial effusions and chest symptoms and was tested for COVID-19 multiple times. This case demonstrates the importance of multidisciplinary coordination with rheumatology and respiratory colleagues in antisynthetase syndrome.
P22 Clinicopathologic characteristics of metastatic cutaneous squamous cell carcinoma: a cohort study
Authors: Stefanovic Nicholas , Irvine Alan , Cosgrave Niall , Killion Lisa , Ormond Patrick , Moran Benvon , Barry Rupert 
Published: June 2023

Abstract
Cutaneous squamous cell carcinoma (cSCC) is a keratinocyte tumour with excellent prognosis following early-stage surgical treatment. Nevertheless, cSCC possesses an inherent potential for locoregional and distant metastasis in approximately 4% of cases, contributing to disease-specific mortality. Recent guidance on cSCC management risk stratifies patients based on clinicopathological factors to identify those patients most at risk of metastasis. A retrospective cohort study identified 3455 cSCCs arising in 2522 patients, via review of histopathological diagnoses of cSCC at a tertiary hospital in Dublin, Ireland, between the years of 2009 and 2019. The aim of the study was to describe adequately a large cohort of patients with metastatic cSCC and investigate factors associated with metastasis. Metastatic disease was identified by histopathological and/or radiological confirmation in 116 patients, with complete data available in 105 cases. Twenty-two (21%) were female. Mean age at primary tumour diagnosis was 74.8 years and mean time to first metastasis was 0.8 years. Twenty-six (25%) patients were immunosuppressed, the commonest reason for which was haematological malignancy. Median (SD) size of the primary tumour was 36 (21.65) mm and median depth was 10 (7.43) mm. Eighty-six (82%) tumours were located on the head and neck. Seventeen (16%) of the tumours were recurrent, 58 (55%) were &gt; 20 mm, 38 (36%) demonstrated extension beyond subcutaneous fat, 22 (21%) demonstrated lymphovascular invasion, 24 (23%) demonstrated perineural invasion of nerves &gt; 0.1 mm in diameter and 41 (39%) tumours were poorly differentiated. Twenty-six patients developed distant metastatic disease in addition to nodal metastasis. In most patients in our cohort, AJCC 8th Edition histopathological high-risk cSCC features were absent, apart from size &gt; 20 mm. Conversely, most patients exhibited at least one clinical high-risk cSCC feature as per the British Association of Dermatologists’ guidelines for the management of cutaneous squamous cell carcinoma, including advanced age and tumour location (Keohane SG, Botting J, Budny PG et al. British Association of Dermatologists guidelines for the management of people with cutaneous squamous cell carcinoma 2020. Br J Dermatol 2021; 184:401–14). All patients were discussed at a specialist skin multidisciplinary team meeting, with significant variability noted in preoperative imaging, depending on the primary treating specialty. This cohort illustrates the importance of risk stratification of cSCC on clinicopathological features. This facilitates management decisions and ongoing patient surveillance with a view to preventing disease-specific morbidity and mortality.
P26 Risk factors for complications in cutaneous squamous cell carcinoma and proposal of a simplified follow-up strategy, making use of available healthcare resources
Authors: Micallef Daniel , Dimech Alicia , Pisani David , Camilleri Liberato , Scerri Lawrence 
Published: June 2023

Abstract
Cutaneous squamous cell carcinoma (cSCC) is a common malignancy, generally cured by surgical excision. A minority of such tumours recur, metastasize or even cause death. The 2021 British Association of Dermatologists (BAD) guidelines outline high-risk features that are used to guide the follow-up of patients after a primary cSCC. The aims of this study were to identify histological features of cSCC that are significantly associated with the development of complications, and to compare the sensitivity, specificity and number of appointments required to follow-up patients using different follow-up criteria. In total, 556 cases of primary invasive cSCCs excised between January 2014 and March 2018 were included and followed-up for a minimum of 4 years. Five per cent (n = 26) of tumours were associated with at least one cSCC-related complication, namely, local recurrence 3.8% (n = 21), nodal metastasis 1.6% (n = 9), distant metastasis 0.4% (n = 2) and disease-specific death 0.7% (n = 4). The initial diagnosed complication was local recurrence in 20 of 26 cases. Only two patients had the first complication beyond 2 years of the original cSCC. Factors that were statistically significantly associated with the development of a complication (P &lt; 0.001) are larger diameter, larger depth of invasion, tumour invasion beyond the dermis, perineural invasion (irrespective of size), lymphovascular invasion, gross bone erosion and deep margin &lt; 1 mm. Differentiation and peripheral margin were not significantly associated with complications. Therefore, it may be proposed that patients with tumours with at least one of the following risk factors be followed-up: diameter &gt; 40 mm; depth of invasion &gt; 6 mm; invasion beyond the dermis; presence of perineural or lymphovascular invasion or deep margin &lt; 1 mm. In adopting these criteria, 739 appointments in 156 patients would be required over 2 years (4 monthly during the first year and 6 monthly during the second year). Twenty of the patients who developed a complication would be followed-up (sensitivity 76.9%, specificity 69.4%). Using the BAD guidelines, up to four more patients with complications would have been followed-up (sensitivity 92.3%, specificity 44.7%), but this would have required a total of 1556 follow-up visits in 242 patients. Given the limited resources, patient burden and the fact that local recurrence is most often the first complication, it may be reasonable to offer routine follow-up only to patients who have at least one of the proposed criteria. Coupled with patient education, this strategy could greatly reduce the number of follow-up visits required. Such a strategy may allow resources to be utilized to reduce waiting times, particularly for 2-week wait referrals, decreasing the delay in new skin cancer diagnoses.
P30 Declining staff numbers and increasing workload: is there a solution?
Authors: Wolfe Charlotte , Phillips Rebecca , Laheru Dhruvkumar , Fisher Rachel 
Published: June 2023

Abstract
Within the UK, there is a rapidly rising incidence of malignancies, including cutaneous cancers. Over 1 million new patients are referred to dermatology each year and a large proportion require a diagnostic or therapeutic biopsy. Dermatologists often rely on histopathology to confirm or diagnose cancers, determine margins and perform specialist testing. The increasing rates of cancers are adding significantly to the histopathology workload. According to the Royal College of Pathologists (RCPath), only 3% of departments report having adequate staff to meet clinical demand. There are a significant number of unfilled training posts and a concurrent retirement crisis, with 25% of all pathologists over 55 years old. It can take up to 15 years to train consultants, with the more experienced able to handle greater workloads. The lack of pathologists, with widespread vacancies, has a significant impact. The resulting costs to the health service of employing locums and outsourcing work have been estimated to be £27 million annually. For patients, the costs of these shortages mean delays in diagnosis and treatment. A RCPath key performance indicator advises that 80% of cases should be reported within 7–10 calendar days. Across dermatology departments, there is wide reported variation in reporting times from 1 to 28 weeks. In 2019, the longest wait, on average, was 5.8 weeks. We surveyed 60 histopathology consultants across different National Health Service trusts in England to determine the reasons behind these delays. The survey response rate was 45%. The results showed that 78% of departments have unfilled posts, 83% have employed locum staff or outsourced reporting of skin biopsies in the last 5 years and only 20% are able to meet the RCPath guidance. Additionally, almost one-quarter reported that they have had complaints or serious incidences related to delayed dermatopathology reporting. Survey comments revealed many other areas of potential diagnostic delay from sample labelling and prioritizing to prolonged laboratory processing times, unclear pathways to expedite samples and the lack of histopathology secretaries. This survey highlights the increasing workforce demands and emphasizes the need for innovative changes to avoid delays in patient care. Possible solutions to address increased workload in an understaffed environment include adequate secretarial support, increasing pathology pathway navigators who prioritize urgent cases, improving information technology services, digital slide reporting and developing artificial intelligence to screen samples. Increasing dermatopathology training and exposure to histopathology at a junior level is mandatory. Raising these issues and making them a key investment priority for the government is imperative.
P34 Changing patterns of skin diseases in patients attending a tertiary private hospital in central Uganda
Authors: Namutebi Fiona 
Published: June 2023

Abstract
There is scarce epidemiological data available on the prevalence of skin disorders in Uganda, a tropical country in sub-Saharan Africa. Skin diseases are a common occurrence in sub-Saharan Africa but receive less attention because they are perceived to cause less mortality. Previous studies have reported a skin disorder prevalence of 30–70% in the general population of developing countries. The majority of studies in sub-Saharan Africa reveal skin infections as the most common dermatology disorder, with a few studies reporting a changing trend toward eczematous disorders. The aim was to investigate the spectrum of skin disorders at a tertiary private healthcare hospital in central Uganda. A cross-sectional study was conducted from September 2021 to August 2022. All patients attending the outpatient skin clinic were recruited. Initial visits were considered. The diagnosis was made clinically and, where necessary, additional investigations were carried out. Data analysis was done with SPSS version 21 (IBM) and Microsoft Excel. A total of 1097 diagnoses were made in 913 patients, of whom 72.9% were adults and 27.1% were under 18 years of age. There were 488 (53.4%) females and a mean (SD) age of 28.9 (16.2) years. The top-five diagnoses were eczematous disorders (n = 223; 20.3%), adnexal disorders (n = 195; 17.8%), infections (n = 182; 16.6%), papulosquamous disorders (n = 93; 8.5%) and pigmentary disorders (n = 59; 5.4%). The results of this research show changing patterns of skin disease presentation from infections in 2016 to eczematous disorders in 2022 as the leading cause of outpatient dermatology consultation at a tertiary private hospital in central Uganda. This calls for proper replanning and budget allocation given the changing spectrum of skin disease presentation at this facility.
P48 Clinical update: ivermectin access for scabies improved through the pharmaceutical benefits scheme change in Australia
Authors: Cox Victoria , Dowden Michelle , Stephens Mike , Currie Bart 
Published: June 2023

Abstract
Scabies is estimated to affect 455 million people worldwide and is a neglected tropical disease that is endemic in northern Australia. Indigenous communities in northern Australia are reported to have some of the highest rates of scabies in the Pacific, with recent prevalence reported to be as high as 25%, with secondary complications including rheumatic heart disease and poststreptococcal glomerulonephritis. However, the high burden of skin disease is still under-reported and under-represented on the national policy agenda. It is essential to consider public health strategies and therapeutic opportunities to address the high burden of disease and minimize serious secondary complications that contribute to the health and life expectancy gap that exists between aboriginal and Torres Strait Islander people and other Australians. Considering the clinical need of the patient population, the management of scabies in northern Australia highlights the impracticality and tolerability issues experienced, with topical permethrin 5% cream as the sole first-line treatment option and use of ivermectin only as a second-line treatment after treatment failure with permethrin cream. This is especially important as poor medication access and treatment failure are well known to perpetuate a cycle of health inequity in northern Australia. A multistakeholder submission to the Pharmaceutical Benefits Advisory Committee was developed to support a change to the listing of ivermectin on the Pharmaceutical Benefits Scheme (PBS) in Australia, and to recommend ivermectin as a first-line treatment option for the management of scabies in aboriginal and Torres Strait Islander people in Australia. The PBS listing was successfully changed after 9 months of review, and from 1 April 2022, oral ivermectin has been listed as a first-line treatment for the management of scabies in aboriginal and Torres Strait Islander people in Australia. It is anticipated that the change in national prescribing will have a large impact on a small number of Australians who face significant disadvantages and health inequity and will improve access of treatment to manage effectively a condition that disproportionately affects First Nations people in Australia. The successful PBS listing change occurred ahead of the release of the new edition of the Australian clinical guidelines, which at the time of writing are scheduled to be released in early 2023. The updated guidelines will include ivermectin as a co-first-line treatment alongside topical permethrin 5% cream for the management of scabies, in addition to considering an ivermectin-based mass-drug administration programme for endemic regions in which the burden of scabies is estimated to be &gt; 10%, as recommended by the World Health Organization.
P58 Sustained improvement in malignant melanoma prognosis at a consultant-delivered multidisciplinary pigmented lesion clinic: a follow-up study
Authors: McDonnell Róisín , Kiely Lisa , Brennan Aline , McDevitt Joe , Murray Deirdre , Murphy Michelle , Bennett Mary , Bourke John 
Published: June 2023

Abstract
Rapid-access clinics are designed to improve the early detection and prognosis of melanoma, but there is little hard evidence in the literature of their effectiveness. We established a pigmented lesion clinic (PLC) in 2002 and have previously demonstrated a subsequent reduction in melanoma thickness at our hospital. We undertook a retrospective cohort study to assess the long-term effects. Data for all melanomas diagnosed in the Republic of Ireland between 1 January 1998 and 31 December 2019 were provided by the National Cancer Registry Ireland (n = 15 619). We excluded T0 and Tis and unknown T melanomas. Our PLC was found to have a higher proportion of tumours diagnosed at an earlier stage of T1 (51.6%) vs. the region/county where the PLC is based (37.8%) and Ireland (40.3%). Following the introduction of the PLC, from 2003 to 2007, a significant difference was noted between our PLC and the rest of Ireland, with a higher proportion of T1 tumours diagnosed (41.6% vs. 29.7%; P &lt; 0.001). For the region, the percentage of T1 tumours was lower than for the rest of the country, but this difference fell short of significance (34.5%; P = 0.057). In the two 5-year periods following this (2008–2013 and 2014–2019), our PLC had significantly more early tumours (44.4% and 62.1%, respectively) than the rest of Ireland (35.9% and 52.2%, respectively; P &lt; 0.001 for both time periods). More PLCs have been established across the country, probably accounting for the higher proportion of early-stage melanomas diagnosed in 2014–2019. The figures for the region were also significantly better than those for the rest of the country [40.7% and 55.7% (P = 0.008 and P = 0.039), respectively], suggesting that the PLC has had an effect on prognosis, resulting in a greater proportion of early melanomas in the region vs. Ireland. Preliminary analysis found a hazard ratio (HR) of 0.78, or a 22% reduced risk death, at 5 years (unadjusted Cox proportional hazard regression on all nonmetastatic melanoma with known T diagnosed 1998–2019, n = 16,489) for those attending the PLC vs. the rest of Ireland. Patients in the rest of the region were found to have a higher HR (1.15) vs. the rest of Ireland. The PLC appears to have contributed to improved prognosis in the region in the years following its establishment. This study supports the long-term benefits of a PLC over the course of more than 20 years.
P59 Results of sentinel lymph node biopsies in thin melanomas (Breslow thickness 0.8–1.0 mm) and correlation with histopathological features
Authors: Kenny Bernard Anton , Durack Alana 
Published: June 2023

Abstract
In July 2022, the National Institute for Health and Care Excellence (NICE) melanoma guidelines were updated to include recommendation for a sentinel lymph node (SLN) biopsy for those with a Breslow thickness of 0.8–1 mm and at least one of the following: ulceration, lymphovascular invasion and/or a mitotic index of ≥ 2 mm². SLN biopsy is a staging procedure and therefore has an impact on prognosis. However, SLN biopsy is an invasive procedure with associated morbidity. A 5-year retrospective review of melanoma data in the south east of Ireland was undertaken to establish the correlation between positive sentinel lymph node biopsies in 0.8–1.0-mm-thick melanomas and the risk factors outlined above. Melanoma outcomes, histopathology reports and outpatient clinic letters were assessed and data were extracted from 1 January 2018 to 31 December 2022 inclusive. A total of 52 patients were identified with a melanoma of Breslow thickness of 0.8–1 mm from the predetermined timeframe. Eight per cent (n = 4) of lesions were ulcerated. Thirteen per cent (n = 7) had a mitotic index of ≥ 2 mm². One lesion was both ulcerated and had a mitotic index of ≥ 2 mm². No lesions demonstrated lymphovascular invasion. Nineteen (36%) patients underwent SLN biopsy. All patients who underwent SLN biopsy were negative. One patient with an ulcerated melanoma did not undergo SLN biopsy and five with a mitotic index of ≥ 2 did not undergo SLN biopsy. There was no evidence of disease recurrence within the follow-up period (2 months–5 years). This population showed a 0% positivity rate on SLN biopsy. No correlation with mitotic index or ulceration and SLN biopsy was identified. No patients have developed local recurrence or metastatic disease within the follow-up period. This study supports the updated NICE guidance recommending SLN biopsies for thicker melanomas (i.e. Breslow thickness &gt; 1.0 mm) and SLN biopsy in thinner melanomas (Breslow thickness 0.8–1 mm) only if concerning features are present on histology (i.e. ulceration, lymphovascular invasion and/or a mitotic index of ≥ 2).