bluuebunny/crossref_metadata_2025_split huggingface dataset:
BG02 A case of Werner syndrome: undiagnosed progeroid syndrome presenting as female pattern hair loss
Authors: Elias Jennifer , Singh-Raghunath Rakhi 
Published: June 2023

Abstract
A 27-year-old woman of Pakistani heritage with a background of type 2 diabetes, hypertension, hypothyroidism, infertility and Achilles tendinopathy was referred to the dermatology department for diffuse hair loss. She had greying of the scalp hair from the age of 20 years and, on examination, there were signs of hair fragility and thinning. Biopsies showed female pattern hair loss. Topical minoxidil 5% twice daily was advised. At the consultation, it was noted that her facial features included a thin nose with micrognathia. She had dental implants and had undergone cataract surgery at 19 years of age. Scleroderma-like changes were noted on the face and over the distal joints, alongside axillary freckling and excessive lentigines for her age and skin type. She was of short stature and low weight, with a body mass index (BMI) of 15.4 kg m–2. There was thenar and hypothenar wasting and loss of gluteal fat. Her parents were consanguineous (first cousins). One of her brothers, who had similar facial features, died aged 30 years from osteosarcoma. The patient and her partner had undergone two unsuccessful cycles of in vitro fertilization following 5 years of failure to conceive naturally. Medication consisted of atorvastatin, Calcichew, levothyroxine, lisinopril, metformin, pioglitazone and repaglinide. Routine bloods and hormone profile were normal. Despite her age, BMI and statin treatment, blood lipids were raised and a liver ultrasound showed fatty changes. The dermatology department queried Werner syndrome and referral to a tertiary lipodystrophy clinic was made. The lipodystrophy genetic panel was completed. Homozygous null mutation at the WRN locus was found confirming a diagnosis of Werner syndrome. Werner syndrome is an extremely rare autosomal recessive form of progeroid syndrome first described by Otto Werner in 1904. The hallmark sign is the striking disproportion between the patient’s age and appearance. WRN encodes the eponymous WRN protein, a member of the RecQ-like DNA helicase family. The prognosis is unfavourable, with a mean survival of 54 years. Primary causes of mortality are cardiovascular disease and malignancy, with melanoma, thyroid cancer, osteosarcoma and soft tissue sarcoma being the most common forms. There is currently no specific treatment. Management is close multidisciplinary monitoring and treatment of associated conditions. A 2010 study of the Werner syndrome mouse model found vitamin C supplementation to be beneficial (Massip L, Garand C, Paquet ER et al. Vitamin C restores healthy aging in a mouse model for Werner syndrome. FASEB J 2010; 24:158–72). As the condition results in excess damage on ultraviolet exposure and a high risk of melanoma, as well as nonmelanoma skin cancers, an annual dermatology skin check is required.
BG07 VEXAS syndrome without the V: a New Zealand case report
Authors: Leightell-Brown Lauren , Sommer Sabine 
Published: June 2023

Abstract
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an autoinflammatory condition first described in 2020, often with cutaneous features. Effective treatments are yet to be established. We describe the case of a 60-year-old man who presented with rapidly enlarging cutaneous lesions to the face and neck, polychondritis, myalgia, arthralgia and fevers over a 2-month period. Skin biopsy showed a neutrophilic dermatosis with a differential diagnosis of seronegative rheumatoid neutrophilic dermatosis and atypical Sweet syndrome. His cutaneous complaints improved following treatment with prednisone 30 mg. His cutaneous symptoms relapsed on attempts to wean prednisone to &lt; 20 mg. He then developed macrocytic anaemia and transient thrombocytopenia. He was then hospitalized and treated for community-acquired pneumonia. Bone marrow biopsy was normal and without evidence of vacuoles. The patient developed progressive fatigue and shortness of breath, with transient stenosing tenosynovitis and Raynaud symptoms over 3 years. He was most burdened by soft tissue and joint swelling, with muscular stiffness and pain particularly affecting his hands and feet. Methotrexate was partially effective in managing myalgia. Dapsone, hydroxy­chloroquine, mycophenolate, cyclophosphamide and colchicine were tried without benefit. Following a regional dermatology multidisciplinary team meeting, the patient was screened for VEXAS syndrome. Blood and bone marrow genetic testing found a UBA1 mutation load which is 50% of total DNA, confirming a diagnosis of VEXAS syndrome and the highest found in a New Zealand laboratory to date. Bone marrow images were re-examined, with no vacuolization noted. Our patient had a heterozygous UBA1C (Met41Leu) variant present in 50% of his blood and bone marrow DNA—to our knowledge the highest VEXAS genetic mutation seen in a New Zealand laboratory so far. Our case illustrates that, in patients with clinical evidence of VEXAS syndrome, the absence of vacuolization on bone marrow biopsy should not be a criterion for exclusion.
BH03 Lipoedematous scalp occurring in two female siblings: further evidence of a genetic role?
Authors: Khalil Nada , Fernandez Carolina , Patel Neil P 
Published: June 2023

Abstract
Lipoedematous scalp (LS) is a rare disorder characterized by thickening of the adipose subcutaneous scalp layer. We describe an unusual case of two female siblings presenting with the same condition. A 58-year-old black Caribbean woman presented with a 7-year history of an itchy, painful and scaly scalp, without any associated hair loss. Mycology had been negative. There was a history of paranoid schizophrenia and bipolar disorder, for which she was taking olanzapine. Body mass index (BMI) was 39 mg kg–2. Examination revealed a thickened scalp with a spongy consistency, with no associated surface change or hair loss. Scalp ultrasound was performed, demonstrating a scalp thickness of 12 mm at the vertex (normal range 5–6 mm). Scalp biopsy revealed prominent fat in the dermis around the hair follicles, with follicular distortion and some focal perifollicular fibrosis. Based on these findings, a clinicopathological diagnosis of LS was made. The patient’s 63-year-old sister presented with similar scalp symptoms. She had a background of diabetes mellitus type 2, migraine and hypomania and was taking metformin, gliclazide, atorvastatin, sodium valproate and mirabegron; her BMI was 26 mg kg–2. Scalp ultrasound revealed diffuse thickening of the subcutaneous fat measuring 9 mm at the vertex, which was also consistent with a diagnosis of LS. The pathogenesis of LS is poorly understood. It is more common in females, and there appears to be an association between LS and obesity (Yasar S, Gunes P, Serdar ZA, Tosun I. Clinical and pathological features of 31 cases of lipedematous scalp and lipedematous alopecia. Eur J Dermatol 2011; 21:520–8). Studies have implicated leptin, a hormone that regulates distribution of adipose tissue. There is limited evidence for a genetic role in LS. We identified three female cases of LS in the literature with a positive family history in their daughters (Yasar et al.) but no cases of siblings with LS. We identified one reported case of the related disorder, lipoedematous alopecia, occurring in a pair of female siblings (Koç Yıldırım S, İğde B. Lipedematous alopecia: report of two female siblings. J Cosmet Dermatol 2022; 21:1324–5). Our case highlights a possible genetic role in the pathogenesis of LS, and further studies are needed to investigate this link further.
BH06 (P100) Dermoscopy and clinicohistopathological profile of lichen planopilaris restricted to the face: a case series of six unusual cases
Authors: Kothari Rohit , Sandhu Sunmeet 
Published: June 2023

Abstract
Lichen planopilaris (LPP) is an autoimmune cicatricial alopecia that usually affects the scalp. LPP confined to the face is rare and the information on its dermoscopy is limited. We present the dermoscopy and clinicohistopathological profile of six patients, all but one of whom were men aged 32–60 years. A 12-year-old girl was the youngest patient in our series, as well as in the literature to the best of our knowledge. All patients presented with varying degrees of hyperpigmented atrophic patches and scarring alopecia restricted to the face. Two had a linear morphology, which is usually the most common presentation of facial LPP. In our series, the chin was the most frequently affected site, followed by the cheek and upper lips; the forehead was the least frequently involved. None of the patients had lesions elsewhere on the body, including the scalp. The duration of the lesions ranged from 1 to 6 months. All cases showed a brown-to-violaceous background and/or mild blotchy erythema, significantly reduced hair follicles, cicatricial alopecia, and variable scaling and/or peripilar cast, brown dots, pigment pseudonetwork, pigment clumps and whitish scar-like areas on dermoscopy. Histopathology predominantly showed perifollicular inflammatory infiltrate, basal layer vacuolar degeneration and pigment incontinence, focal areas of perifollicular fibrosis, corresponding to the erythema and peripilar cast, brown dots and pigment clumps, and scar-like areas. The men all described regular shaving, almost daily. The girl and two men described having a regular mustard oil massage over the face, which might have irritated and damaged the facial skin. The possibility of continuous microtrauma due to shaving and mustard oil application acting as a trigger leading to development of facial LPP cannot be ruled out. All patients received hydroxychloroquine, potent topical corticosteroids, intralesional steroids and/or oral steroids. Patient 3 was lost to follow-up; the rest are under regular follow-up with a favourable—albeit suboptimal—response. This case series highlights a rare presentation of LPP restricted to the face, with only a few similar cases with dermoscopy reported in the literature. Its diagnosis requires a high degree of suspicion in any case presenting with scarring alopecia and atrophic patches over the face. The treatment is difficult and aims to halt disease progression and/or hair regrowth if detected and treated early, preventing significant morbidity and anxiety in the patient.
BH11 Cutis verticis gyrata associated with chronic traction
Authors: Mistry Sona , Harries Matthew , Chaudhry Iskander , Cummins Donna 
Published: June 2023

Abstract
Cutis verticis gyrata (CVG) is a rare condition characterized by overgrowth of the skin of the scalp, leading to skinfolds and deep convoluted furrows that resemble the cerebral cortex gyri. Cases of CVG have been classified into primary essential, primary nonessential and secondary. Primary essential CVG has no associated abnormalities. Primary nonessential CVG is associated with neurological or ophthalmological abnormalities. Secondary CVG is due to a local inflammatory or neoplastic process, or an underlying endocrine or genetic cause. We present two cases of CVG associated with chronic traction alopecia. The main clinical features in both cases were thickened skinfolds in the central scalp, which did not extend to the lateral scalp, recession of the frontal hairline with fringe sign and a negative hair-pull test. Histological findings from the zone of alopecia included nonscarring hair loss with the presence of fibrous tracks within the skin but preservation of the sebaceous glands, consistent with chronic traction alopecia. Both patients were advised to reduce tension on the hair and were treated with topical minoxidil and advised on hair transplantation. Patient 1 was a 15-year-old Sikh boy who developed CVG secondary to chronic traction applied from tying his hair at the top of his scalp when wearing a turban. Owing to cultural practices, the patient could not cut his hair, representing a challenge of treating CVG associated with chronic traction in this group of patients. Patient 2 was a 16-year-old girl with a background of joint hypermobility and recurrent hip dislocations, currently undergoing genetic testing for Ehlers-Danlos syndrome. She developed CVG following chronic traction due to hairstyling. Interestingly, cutting her hair resulted in some improvement of the appearance of CVG, possibly due to reduced hair tension. Chronic traction is an uncommon cause of CVG, with only a few cases reported in the literature. It is likely that the persistent tension of tight hairstyles pulls the scalp into folds and contributes to the appearance of CVG. These cases highlight the importance of ascertaining whether a history of traction styling is present in the diagnosis and management of CVG.
BH12 Granulomatous alopecia areata
Authors: Watts Sophia , Jaulim Adil , Conceicao Vilma , Deroide Florence , Sheraz Adil 
Published: June 2023

Abstract
A 46-year-old woman with Fitzpatrick skin type V presented with sudden-onset accelerated diffuse hair loss. Her other relevant medical history included Graves disease. Trichoscopy showed black dots, broken hairs with exclamation mark-like hairs and yellow dots. She was provisionally diagnosed with diffuse alopecia areata (AA). Laboratory work-up, including complete blood count, liver/renal parameters, antinuclear antibody and complement screen did not reveal any abnormality. Thyroid function and adjusted calcium level were all within the normal range. She had slight iron, folate and vitamin D deficiencies, which were treated with the appropriate supplements. A biopsy was taken from the scalp, and histological examination showed a nonscarring process with miniaturization, significant telogen shift and peribulbar granulomatous inflammation. Subsequent syphilis serology was negative, and serum angiotensin-converting enzyme was within normal limits. No clinical features of sarcoidosis or syphilis were observed. After careful clinicopathological correlation, she was diagnosed with granulomatous AA. We planned to treat her with diphencyprone; however, her hair grew back spontaneously after 2 months. AA is a nonscarring hair loss that can commonly affect the scalp and beard, as well as any hair-bearing surface on the body. It is a T-cell-mediated disease with characteristic histological features, including peribulbar lymphocytic inflammation with or without eosinophils, follicular miniaturization and an increase in catagen/telogen hairs. Peribulbar granulomatous inflammation is a rare histopathological finding in AA. In the context of alopecia, other conditions associated with histopathological granulomatous findings include sarcoidosis, syphilis and various forms of inflammatory and cicatrizing alopecia. To our knowledge, only five other cases of granulomatous AA have been reported. Notably, we describe the first case from the UK and only the second case internationally to show spontaneous resolution, suggesting that the prognosis of granulomatous AA is not dissimilar to histologically typical AA. To summarize, we have described a clinically typical AA with atypical histopathological findings. Granulomatous inflammation should not preclude a diagnosis of AA. This demonstrates the importance of clinicopathological correlation as the histopathology of alopecia could potentially be misleading.
BI05 How do we manage organ transplant recipients after their first cutaneous squamous cell carcinoma: the UK multicentre Contemporary Outcomes After cutaneous SCC in Transplant recipients study
Authors: Peleva Emilia , Cernova Jeva , Crisp Tom , Thursaisingham Raj , Wijayawickrama Buddhika , Harwood Catherine , Bottomley Matthew 
Published: June 2023

Abstract
Cutaneous squamous cell carcinoma (cSCC) is the most common malignancy in organ transplant recipients (OTRs). Previous studies have shown that up to 75% of OTRs develop further skin cancer after their first cSCC. Interventions aimed at reducing this risk include modification of immunosuppression. However, a recent Delphi study has highlighted the lack of evidence regarding the optimal timing and nature of immunosuppression modification, and the frequency of utilization and impact of this approach at time of first cSCC is unknown. The COAST (Contemporary Outcomes After cutaneous SCC in Transplant recipients) study is a multicentre retrospective cohort study aiming to investigate contemporary management and outcomes after the first cSCC in kidney transplant recipients in the UK as a baseline for informing future interventional studies. We identified 119 consecutive kidney/kidney–pancreas transplant recipients across six centres in whom a first-ever cSCC was histologically confirmed. Median cumulative duration of immunosuppression to first cSCC was 143 months (range 5–480), median age at diagnosis was 63 years (range 44–87), 77% were male, 24% had a previous transplant, 37% had a previous skin malignancy other than cSCC and 8% had two or more cSCCs excised at the same time. Two-thirds of the first cSCCs were located on the head and neck, the median diameter was 12 mm (range 2–60) and TNM staging was T1 (64%), T2 (17%) and T3 (20%). After the first cSCC, 20% of OTRs had another cSCC within 12 months, 30% by 24 months and &gt; 50% by 4 years. During the immediate follow-up (within 6 months of the first cSCC), immunosuppression was modified in 32.8% (n = 39/119) of patients (immunosuppression arm), and in 41% (n = 16/39) it was explicitly stated to be a result of cSCC diagnosis. During a median follow-up of 36 months (range 0–80; interquartile range 24–52), 21/39 (54%) in the IM arm had further cSCC(s), seven (17.9%) had metastatic cSCC, nine (23%) had graft loss, five (13%) developed further noncutaneous malignancies and 11 (28%) died during follow-up. In the nonimmunosuppression arm (n = 79), 31 (39%) had further cSCC(s), 6 (8%) had metastatic cSCC, 13 (16%) had graft loss, eight (10%) developed further noncutaneous malignancies and 18 (23%) died during follow-up. In this study, early modification of immunosuppression following a cSCC diagnosis was not associated with improved cancer-related outcomes. This may partly be explained by confounders, possible clinician selection of high-risk patients for immunosuppression modification, the 6-month window studied and the small sample size, which is the subject of ongoing analyses. Further prospective studies are urgently needed to evaluate the optimal timing and regime for immunosuppression modification for optimizing patient outcomes.
CD13 Remote review for final patch test reading: a virtual reality?
Authors: Dalal Fatima , Thompson Donna A 
Published: June 2023

Abstract
Patch test reading at day 7 is suggested in current national (British Association of Dermatologists 2017) and international (European Society of Contact Dermatitis 2015) guidelines to identify late positive reactions. Allergens most established with late reactions are metals, antibiotics, acrylates and preservatives (Viggiano T, Yiannias JA, Yang YW. A retrospective review of late delayed positive patch testing greater than day 8 at Mayo Clinic from 2001 to 2020. Dermatitis 2022; 33:411–16). We report a case of significantly delayed contact dermatitis to four acrylates and ethyl paraben in a 49-year-old immunocompetent woman. She was referred to the cutaneous allergy clinic for patch testing following a rash affecting the torso after application of a sunscreen during a sunny holiday. She reported historical skin irritation after the use of nail lacquer and at the site of a caesarean section wound that was closed with skin glue 14 years prior. Patch test reading at day 4 (96 h) was negative; positive reactions to ethyl paraben, 2-hydroxyethylmethacrylate and ethyl cyanoacrylate appeared at day 23 (552 h). Positive reactions to hexanediol diacrylate and triethylene glycol diacrylate appeared at day 31 (744 h). These were communicated to us by the patient via email, with photographs clearly showing the development of new positive reactions. Of note, there was no reaction to the sunscreen product, although ethyl paraben was identified in the ingredients list, as well as two acrylate-containing polymers. Sensitization from diagnostic patch testing carried out to accepted international guidelines is rare but can occur with some allergens such as strong sensitizers, including paraphenylenediamine. The allergens identified in our case are found commonly in everyday cosmetics, adhesives and preservatives, including some that the patient had identified previous exposure to. Acrylates are acknowledged for causing potential delayed positive reaction by day 8 (Viggiano et al.); one case report describes true allergic acrylate reaction in a dental worker after 5 weeks (Fowler JF Jr. Late patch test reaction to acrylates in a dental worker. Am J Contact Dermat 1999; 10:224–5). There are no established reports of late positive reactions to ethyl paraben. With increasing online resources, delayed reactions beyond day 7 can be established with patient-initiated remote review of photographs taken during and subsequent to patch testing appointments. This case highlights the importance of keeping channels open for patients to contact the cutaneous allergy team after the final in-person reading to ensure (very) late allergen reactions are not missed.
DP02 (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 requires 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 has 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 a 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 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.