bluuebunny/crossref_metadata_2025_split huggingface dataset:
CPC14 Winning streak: a case of congenital ichthyosiform erythroderma
Authors: O’Connor Cathal , Bussmann Neidín , Heffron Cynthia , Mhaolcatha Sarah Ní , O’Shea Sally 
Published: June 2024

Abstract
A first-born female infant was delivered at term with widespread redness and scale. There was no family history of genodermatoses or inflammatory dermatoses. There was no parental consanguinity and no history of miscarriages. On examination there was erythroderma, generalized thick adherent scale in a feathery pattern following lines of Blaschko, and shiny red whorls on the dorsolateral feet. There was no skin peeling or skin fragility. Several fingernails were hypoplastic. The nasal bridge was flat and the neck was short. Red reflex was present bilaterally but both eyes were noted to be small. The head and trunk were large relative to the limbs and the proximal limb segments were proportionately short. Given the constellation of signs, a specific syndromic ichthyosis was suspected. Skin biopsies from linear scaly streaks showed orthohyperkeratosis and numerous dilated follicular ostia with keratin plugs. Foci of calcification were seen in the corneocytes of the stratum corneum and hair follicles, highlighted with a von Kossa stain. Skeletal survey showed symmetric punctate calcification and stippling of the proximal femoral epiphysis and ankle bilaterally, and of the right humeral epiphysis and right carpus. These findings were in keeping with chondrodysplasia punctata, although no gross rhizomelia was appreciated radiologically. Ophthalmology review did not identify congenital cataracts. Bloods tests showed normal haematological, renal and bone parameters, and a hyperbilirubinaemia meeting the phototherapy threshold. The erythema was noted to improve markedly following 12 h of phototherapy. Urea 10% cream was helpful in reducing the ichthyosis. Genetic testing revealed a pathogenic variant in the ­emopamil-binding protein (EBP) gene (c.184C&gt;T; p.Arg62Trp), confirming the diagnosis of Conradi–Hünermann–Happle syndrome. Conradi–Hünermann–Happle syndrome is a rare type of chondrodysplasia punctata associated with X-linked dominant mutations in the EBP gene, which impair cholesterol biosynthesis. Affected unborn males are not expected to survive to birth. Conradi–Hünermann–Happle syndrome is characterized by the triad of congenital ichthyosiform erythroderma, skeletal dysplasia and congenital cataracts. The cutaneous phenotype is variable, due to the effects of X-inactivation in female infants. Dystrophic calcifications within keratotic infundibular follicular plugs, especially in the stratum corneum, are a unique but under-recognized histopathological feature of newborns with Conradi–Hünermann–Happle syndrome. It is important to perform the skin biopsy early, as the dystrophic calcifications typically resolve spontaneously after the first few weeks of life. This case highlights a typical dramatic presentation of Conradi–Hünermann–Happle syndrome, and emphasizes the importance of early skin biopsy for diagnostic clues.
P009 Cylindrocarcinoma: a rare entity
Authors: Barry Rory , Boggs Jennifer , McMenamin Máirín , Barry Rupert 
Published: June 2024

Abstract
A 73-year-old man was referred from a secondary hospital to the dermatology department with a 2-year history of a biopsy-reported recurrent basal cell carcinoma on the left nasal ala. Full-skin examination revealed a solitary 20 × 11-mm, slightly tender, pink-coloured nodule. His past medical history was significant for multiple nonmelanoma skin cancers and colon cancer. No regular medications were prescribed. Mohs micrographic surgery was performed, with two layers required for margin clearance. The Mohs debulk described a carcinoma with features suggestive of a cylindrocarcinoma with necrosis and a high mitotic rate. On immunohistochemical profiling, tumour cells were strongly positive for S0X10, p63 and p53; had multifocal moderate positive staining for S100; had membranous staining for BerEP4; and were focally positive for CD117. Tumour cells were negative for epithelial membrane antigen, calponin, smooth muscle actin, keratin 20, chromogranin, GATA3 and p16. A PET-CT scan was performed, which ruled out any metastatic disease. No clinical recurrence has been observed 8 months after excision. Cylindromas are benign adnexal neoplasms, usually arising on the head and neck. Malignant transformation of these tumours has been reported only rarely, with fewer than 50 cases in the literature. A female predominance has been noted in both benign and malignant cylindromas. Nineteen cases of metastatic disease have been described, typically in the high-grade form of this malignant tumour, with spread to local lymph nodes or distant viscera. Histopathologically, cylindrocarcinomas may show a salivary gland-type basal cell adenocarcinoma-like pattern. Depending on the grade of the tumour, basaloid cells vary in size and degree of nuclear pleomorphism, and are surrounded by a hyaline eosinophilic sheath. Loss of the hyaline sheath network in a jigsaw pattern can be recognized by partial or complete loss of periodic acid–Schiff positivity in malignant cases. Focal to extensive tumour necrosis is frequently seen. Lymphovascular or perineural invasion is not typically identified. The similar clinical characteristics of cylindrocarcinomas to basal cell carcinomas prompt an important differential diagnosis for dermatology clinicians to be aware of, given the metastatic potential. The rapid growth over 2 years in our case is atypical for basal cell carcinomas and more in keeping with cylindrocarcinomas, as documented in previous case reports of this rare tumour. This case also highlights the merits of reviewing histology slides from the original referring centre when performing Mohs micrographic surgery.
P028 The importance of clinical metadata when triaging patients for face-to-face assessment and possible biopsy in a teledermatology pathway
Authors: Islam Shafiqul , Walls Joseph , Hall Per , Raza Haider , Gan John , Garcia Alba , Wishart Gordon 
Published: June 2024

Abstract
The 7-point checklist (7PCL) is recommended by NICE to select patients with pigmented lesions and possible melanoma for urgent referral. This research investigates the potential of using machine learning (ML) models that utilize patient metadata from a teledermatology pathway including 7PCL for suspicious skin lesion detection, and compares the performance gain for each meta-feature added with the 7PCL. We analysed clinical metadata from 53 601 skin lesions in 25 105 patients who attended private skin cancer diagnosis clinics in the UK between 2015 and 2022. For each lesion, we included the following meta-features: 7PCL (change of lesion size, shape, colour, lesion &gt; 7 mm, inflamed, oozing, itching), weighted 7PCL, Williams score characteristics (patient age, patient sex, natural hair colour, arm mole count, sunburn history, prior nonmelanoma skin cancer), the overall Williams score, prior melanoma, lesion location, lesion age, and whether this was a predominantly nonpigmented pink lesion. All lesions were categorized as suspicious (10%) or nonsuspicious (90%) by skin cancer specialists during telemedicine triage (cancer detection rate = 5%). All meta-features were used as ML model inputs to classify whether each input was associated with suspicious or nonsuspicious classes. This study integrates five ML models (naive Bayes, logistics regression, support vector machine, random forest, and multilayer perceptron) to detect suspicious skin lesions based on patient metadata. Firstly, we compared the ML model performance between the original 7PCL and weighted 7PCL in correctly identifying suspicious skin lesions. We then added each meta-feature with 7PCL and tabulated the performance gain. We utilized balanced accuracy, sensitivity, specificity and area under the curve as evaluation metrics. There were no significant differences observed in model performance between the 7PCL and weighted 7PCL (sensitivity 68.1%). However, the performance of the ML model was improved significantly for each added meta-feature, with the best performance gain (sensitivity 85.2%) observed when 11 meta-features (lesion pink, Williams score, lesion age, sunburn, patient age, Williams group, patient sex, hair colour, site of the lesion on the body, freckling tendency, and mole count) were added to the 7PCL. This research has identified the optimal subset of meta-features that improve ML model performance for categorizing suspicious skin lesions during telemedicine triage, compared with 7PCL alone. Fusing these high-performing meta-features with image modalities is likely to further boost the ML model performance for skin cancer detection, and they could also be used to modify current skin cancer referral guidelines. The study is funded and supported by Innovate UK and the private teledermatology pathway provider.
P029 Targeted skin examinations: a reasonable compromise?
Authors: Rabindranathnambi Aswatha , Ojelabi Modupe , Elston Georgina 
Published: June 2024

Abstract
There has been a significant increase in referrals for suspected skin cancer since March 2021, resulting in busy urgent skin cancer clinics across the country. Gold-standard care would include a full-skin examination for all patients referred via this route to ensure other incidental lesions are not missed, but full-skin examinations are time-consuming and decrease the total number of patients who can be seen in clinic. There is only limited evidence regarding the benefits of full-skin examinations. We conducted a service evaluation: a retrospective review of all ‘new’ patients referred to a 2-week-wait skin cancer clinic in a district general hospital over a 12-month period (January to December 2022). All 205 patients were offered a full-skin examination, of whom 175 accepted full- or partial-skin examination. Overall, 21% (37 of 175) had incidental lesions identified that either warranted treatment or were concerning enough to need photography and further monitoring. Forty-four incidental lesions were picked up in total. The majority were actinic keratoses (n = 7) and basal cell cancers (n = 12). The other incidental lesions were atypical naevi (n = 8), intraepidermal carcinoma (n = 4), lentigo maligna (n = 1), vulval melanosis (n = 1) and malignant melanoma (n = 1). Importantly, most of the incidental lesions were seen in those &gt; 50 years of age (92%) and were on the head and neck or upper body (89%). The majority of these patients (89% of those who had it documented) were found to have Fitzpatrick skin phototypes I or II. Our results suggest that examining the upper body in those &gt; 50 years of age with skin type I and II has the highest yield of picking up further skin lesions that are either cancerous or could be precancerous. This upper-body, targeted skin examination has the potential to avoid further referrals, thus saving time and resources in the long run, for patients and primary and secondary care. Further research is needed to evaluate the impact on ‘hard’ outcomes such as morbidity and mortality rates, as well as potential cost benefits.
P032 Prevalence and severity of dermatological symptoms experienced after critical care admission: an observational study
Authors: Ali Zara , Kalsi Navneet 
Published: June 2024

Abstract
Recent medical advances mean that more people survive critical illnesses and intensive care unit (ICU) admissions. This has led to an uptick in reported physical, cognitive and mental health issues post-ICU (Hiser SL, Fatima A, Ali M et al. Post-intensive care syndrome (PICS): recent updates. J Intensive Care 2023; 11: 23). Despite existing research, dermatological symptoms post-ICU care have been overlooked. This study aims to assess the prevalence and extent of such symptoms in patients 1 month after ICU admission. Local approval was obtained for the study. We enrolled ICU patients admitted for 5 days or longer, or with advanced respiratory issues, from 1 August to 30 November 2023. Telephone interviews were conducted with patients 1 month after ICU admission to assess previous and new dermatological diagnoses or symptoms. If new disease was present, patients were asked about the impact on their quality of life, and if they had sought treatment. Of 148 ICU admissions in a 4-month period, 70 met the study’s criteria. Exclusions were made for patients with primary skin issues (n = 1), deceased or on an end-of-life pathway (n = 25), or still under specialist care (n = 10). Three patients could not be reached. In total, data from 31 patients were included; their ages ranged from 18 to 89 years (mean 61.8, SD 16.9) and 48% were female. Twenty-three patients (74%) experienced dermatological issues post-ICU, including xerosis (n = 8), nonspecific pruritic erythematous rash (n = 5), mouth ulcers (n = 3), hair loss (n = 3), brittle nails (n = 3), cellulitis (n = 2), seborrhoeic dermatitis (n = 2) and pruritus (n = 2). Six patients reported that these caused a significant impact on their daily life (causing low mood, or interrupting sleep or daily activities), while nine reported a moderate impact (causing irritation but not halting usual activities). Nine sought healthcare advice to treat their symptoms, while 10 self-managed with over-the-counter products. Among those with post-ICU dermatological issues, six had a formal chronic dermatology diagnosis, and a further nine reported previous skin problems. The eight patients without post-ICU dermatological symptoms had no formal skin disease diagnoses. Our findings indicate that a notable portion of ICU patients experience skin impairments, and a potential predictor is identified, as 65% of affected patients have a history of chronic skin disorders or symptoms. Dermatological symptoms post-ICU significantly or moderately affected daily life for most individuals, leading them to seek treatment following hospital discharge. Further research is warranted to explore the risk of cutaneous impairment post-ICU, and we propose preventive measures such as prescribing prophylactic emollients to mitigate this risk.
P036 Dupilumab treatment normalizes skin barrier function in children aged 6–11 years with moderate-to-severe atopic dermatitis
Authors: Cork Michael J , Leung Donald , Ong Peck , Danby Simon , Ramirez-Gama Marco , Garcia Shannon , Patricia Taylor , Byers Rob , Matcher Stephen , Zahn Joseph , Bologna Gabriel , Zhang Annie 
Published: June 2024

Abstract
Atopic dermatitis (AD) is associated with significant disruption in skin barrier function, mediated by the type 2 inflammatory cytokines interleukin (IL)-4 and IL-13. This study reports the effect of dupilumab treatment in paediatric patients (aged 6–11 years) with moderate-to-severe AD on skin barrier function and clinician- and patient-reported outcomes. PELISTAD (NCT04718870) was an open-label, exploratory study on skin barrier function in children aged 6–11 years with moderate-to-severe AD treated with dupilumab for 16 weeks based on baseline patient weight (300 mg every 4 weeks: ≥ 15 kg to &lt; 30 kg; 200 mg every 2 weeks: ≥ 30 kg to &lt; 60 kg) and matched healthy volunteers. Transepidermal water loss (TEWL) was assessed longitudinally after skin tape stripping from lesional and nonlesional skin of patients with AD treated with dupilumab, and from healthy skin. Eczema Area and Severity Index (EASI) and skin pain numerical rating scale (NRS) were assessed during the same periods. Twenty-three dupilumab-treated patients and 18 healthy volunteers were included in the study. After 16 weeks of dupilumab treatment, median (95% confidence interval) TEWL after five skin tape strips significantly decreased in the lesional skin of patients with AD (33.8, 25.2–42.3) compared with baseline (63.7, 44.1–83.3; P &lt; 0.001). Least squares mean (standard error) TEWL after five skin tape strips in lesional skin (30.7, 3.5) was comparable with that observed in healthy skin (27.8, 4.4) at week 16 (P = 0.62). Similar improvement was observed in nonlesional skin (25.5, 2.1), which did not significantly differ from healthy skin (24.6, 2.6; P = 0.79). Mean (SD) EASI decreased from 34.8 (11.9) at baseline to 11.3 (11.0) at week 16. Improvement was also observed in skin pain NRS, which decreased from mean (SD) 6.8 (2.5) at baseline to 2.3 (1.4) at week 16. Overall safety was consistent with the known dupilumab safety profile. Dupilumab treatment normalizes skin barrier function and improves clinician- and patient-reported outcomes in paediatric patients aged 6–11 years with moderate-to-severe AD. This research was sponsored by Sanofi and Regeneron Pharmaceuticals Inc. ClinicalTrials.gov identifier: NCT04718870.
P054 National incidence and survival of extramammary Paget disease 2013–2020 in England: reporting a total of 740 cases
Authors: Karkara Shweta , Khan Farishta , Van Bodegraven Birgitta , Venables Zoe C 
Published: June 2024

Abstract
Extramammary Paget disease (EMPD) is a rare disease affecting the rich apocrine gland-bearing areas commonly involving the genital and perianal skin. It was first described in 1889 by Radcliffe Crocker. Clinical features of EMPD are insidious and nonspecific, frequently resulting in delayed diagnosis. Diagnosis of EMPD is important due to its association with an underlying malignancy, most commonly urothelial or anorectal, but it may also be cervical, prostatic, ovarian or endometrial in 10–30% cases. Until recently, there were limited national epidemiological data on incidence and survival. National data on EMPD incidence and 5-year survival in England from 2013 to 2020 were extracted from report-level data published openly by the ‘Get Data Out’ National Disease Registration Service programme. Crude incidence rates are reported per 100 000 person-years (PY). Survival is reported as overall Kaplan–Meier survival and net survival with associated 95% confidence intervals (CIs). Data for 2020 vs. 2019 incidence rate ratios with 95% CIs were calculated using the exact Poisson method. In total, 740 new cases of EMPD were diagnosed between 2013 and 2020, with a mean of 93 cases per year. The average crude incidence rate of EMPD per year was 0.17 per 100 000 PY (95% CI 0.14–0.21). The crude incidence rate in 2013 was 0.16 per 100 000 PY (95% CI 0.13–0.20), which increased nonsignificantly in 2019 to 0.20 per 100 000 (95% CI 0.16–0.24). During 2020, the first year of the COVID-19 pandemic, incidence decreased to 0.14 per 100 000 (95% CI 0.11–0.18). The incidence rate ratio between 2020 and 2019 was 0.73 (95% CI 0.54–0.98), with a P-value of 0.03. The 5-year overall Kaplan–Meier survival was 74.1% (95% CI 63.4–82.1) for EMPD diagnosed in 2013. Important limitations include lack of published data on site, age group, depth of invasion and associated comorbidities including malignancies due to small numbers. The reported net survival for EMPD is comparable with that for melanoma and prostate and breast cancer, presumably a result of its association with other underlying malignancies. The increase in crude incidence rates likely represents the ageing population, and one might expect age-standardized rates to be relatively static. The apparent decrease in the crude incidence rate of EMPD during 2020 demonstrates the impact of the pandemic on skin cancer services, as also shown for melanoma and other cancers. A study in the Netherlands assessed 178 cases of invasive and 48 cases of in situ EMPD and found an overall relative 5-year survival of 72% for invasive tumours and an incidence rate of 0.11 per 100 000 PY for EMPD. These data are important in better understanding the trends and outcomes of this rare and poorly understood tumour.
P076 Risk of psoriatic arthritis and uveitis among patients with psoriasis after COVID-19 infection: a nationwide cohort study
Authors: Chen Tai-Li , Wu Chen-Yi , Chang Wei-Chuen , Chen Chih-Chiang 
Published: June 2024

Abstract
Psoriasis is a chronic, inflammatory, immune-mediated dermatosis associated with multiple comorbidities, such as psoriatic arthritis and uveitis. Systemic inflammation contributes to the pathophysiology of psoriatic complications. Nevertheless, whether patients with psoriasis have a higher risk of developing psoriatic arthritis and uveitis after COVID-19 infection, a disease known to boost inflammatory cytokines, was largely unknown. Therefore, we aimed to investigate the risk of incident psoriatic arthritis and uveitis among patients with psoriasis after COVID-19 infection using real-world data. In this retrospective nationwide study, we analysed data from the US Collaborative Network of the TriNetX Research Database. Adults aged ≥ 18 years diagnosed with psoriasis were eligible for inclusion. Two study cohorts were established: a COVID-19 cohort and a non-COVID-19 cohort. Patients with a diagnosis of COVID-19 between 2020 and 2022 contributed to the COVID-19 cohort. Patients without COVID-19 were matched to construct the non-COVID-19 cohort using 1 : 1 propensity score matching. Multiple covariates, such as age, sex, race, ethnicity, comorbidities, baseline steroid use, systemic immunosuppressant use, and use of biologics, were included to calculate the propensity score. We excluded participants with a history of psoriatic arthritis or uveitis. A Cox regression model was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for psoriatic arthritis and uveitis. Stratified analyses according to age, sex, race and ethnicity were also performed. In total 21 186 participants were included. Overall, 1083 patients with COVID-19 and 495 control patients developed psoriatic arthritis during the follow-up. Patients with psoriasis after COVID-19 infection had an increased risk of incident psoriatic arthritis (HR 2.16, 95% CI 2.07–2.25) compared with those without COVID-19. Moreover, 748 patients with COVID-19 and 401 control patients developed uveitis. Patients with psoriasis with COVID-19 had an increased risk of incident uveitis (HR 1.83, 95% CI 1.70–1.97) compared with those without COVID-19. The increased risk of psoriatic arthritis and uveitis remained significant among men, White patients, and those aged &gt; 45 years. In conclusion, patients with psoriasis after COVID-19 infection have an associated increased risk of psoriatic arthritis and uveitis. Long-term follow-up of complications such as psoriatic arthritis and uveitis may be considered for patients with psoriasis after COVID-19 infection. Future research is warranted to elucidate the pathophysiology linking psoriasis, COVID-19 and psoriatic comorbidities.