bluuebunny/crossref_metadata_2025 huggingface dataset:
BG07 VEXAS syndrome without the V: a New Zealand case report
Authors: Leightell-Brown Lauren , Sommer Sabine
Published: June 2023

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 < 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

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

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

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

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

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 > 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

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

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.
DP07 The effect of the COVID-19 pandemic on the Breslow thickness of melanoma at presentation
Authors: Lau Eva , Bowers Joanne , Humphris Katherine , Binns Louise , Walker Benjamin , Layton Alison
Published: June 2023

The COVID-19 pandemic has caused significant disruption in dermatology healthcare due to patient concern over attending appointments, their conscious effort not to overwhelm services and, in many areas, reduced access to clinical care in the community. This was a single-centre service evaluation of the thickness and staging of melanomas presenting to a secondary care dermatology unit, before, during and after the COVID-19 pandemic. The primary aim was to assess whether there was an increase in tumour thickness and melanoma stage in newly referred patients diagnosed with melanoma postpandemic vs. those presenting prepandemic. Melanoma staging and tumour thickness data were extracted from the local histopathology database for all patients with a melanoma diagnosed at a new patient clinic appointment during the years 2018–2019, 2020–2021 and 2021–2022. Data were subsequently tabulated and analysed. Seventy-five malignant melanomas were identified from 2018 to 2019, with a mean (SD) tumour thickness of 1.47 (2.16) mm. From 2020 to 2021, 93 melanomas were identified with a mean (SD) tumour thickness of 2.17 (3.13) mm. Between 2021 and 2022, 121 melanomas were identified with a mean (SD) tumour thickness of 1.58 (2.70) mm. The mean increase in melanoma thickness between 2018–2019 and 2020–2021 was 0.70 mm (P = 0.10). There was an increase in thicker and higher-stage melanomas diagnosed in 2020–2021, 27 of stage 3A–4C, vs. 17 in 2018–2019 (P = 0.35). Comparing prepandemic lesions with postpandemic ones, the overall number of lesion diagnoses increased from 75 to 121; however, there has not been a statistically significant change in mean thickness (P = 0.77) or the number of higher-grade lesions seen (P = 0.58). In conclusion, there was an increase in the average tumour thickness and melanoma staging immediately after the height of the COVID-19 pandemic. This resonates with published data examining the impact of COVID-19 on melanoma diagnosis from the USA (Weston GK, Jeong HS, Mu EW et al. Impact of COVID-19 on melanoma diagnosis. Melanoma Res 2021; 31:280–1). Further data will be extracted to assess if patient demographics and history for the duration of the presenting lesion correlated with delay in presentation and thicker lesions. It would be interesting to compare data from other dermatology units to see whether there is a similar trend and to collate the patients’ outcomes to evaluate whether patients with delayed presentation have worse prognoses.
DP09 The lupus band test: a review of the sensitivity and specificity in the diagnosis of lupus erythematosus
Authors: Maolcatha Sarah Ní , Dhonncha Eilis Nic , O’Connor Cathal , Dinneen Sinead , Heffron Cynthia
Published: June 2023

The lupus band test (LBT) is a direct immunofluorescence (DIF) technique which shows a band of localized immunoglobulins at the dermoepidermal junction in lesional, non-sun-exposed skin of patients with both systemic (SLE) and cutaneous lupus erythematosus and in the perilesional skin of patients with SLE. However, low sensitivity and poor concordance between histological and clinical diagnoses warrant a review of the application of the LBT in the diagnosis of lupus erythematosus (LE). The aim of this study was to assess the sensitivity and specificity of the LBT in diagnosing LE following clinicopathological correlation (CPC). All cases sent to our pathology department between 2011 and 2018 for DIF with a clinical query of LE were reviewed. Data collection included demographic details, pathology requests, histology and DIF reports, clinical reports and diagnoses and serology. Of 256 histology requests, 9.0% (n = 23) had a positive LBT. This was discordant with the prevalence of LE diagnosis, as 46.3% were diagnosed with LE following CPC. The sensitivity and specificity of the LBT for LE were 17.6% and 98.8%, respectively, with a positive predictive value of 92.9% and negative predictive value of 58.2%. The LBT is not a sensitive diagnostic test for LE, but is highly specific and should be considered as a supportive diagnostic tool for LE. This is the largest reported case series to evaluate the efficacy of the LBT in the diagnosis of LE.
DP21 Thymoma and the skin: manifestations of multiorgan autoimmunity
Authors: Peterknecht Beth , Lewis Helen , Bader Eanas , Fremlin Georgina
Published: June 2023

We present three patients who developed distinct cutaneous manifestations of thymoma: a rare mediastinal tumour. A 25-year-old man was treated for myasthenic crisis. Past medical history included thymectomy in 2016. Admission imaging confirmed recurrence of thymoma. He developed a red–brown macular rash affecting the trunk, back and thighs. Biopsy showed a florid lichenoid dermatitis consistent with graft-versus-host disease (GVHD). After resolution with steroids and mycophenolate mofetil, he subsequently developed a Stevens–Johnson syndrome/toxic epidermal necrolysis-like eruption with erythroderma and epidermal loss. Unfortunately, he developed multiorgan failure and died shortly afterward. A 43-year-old man presented to the emergency dermatology clinic with a 4-month history of a blistering rash affecting the chest and limbs. His previous medical history was significant for thymoma in 2008 and a recurrence in 2013. Skin biopsy demonstrated changes suggestive of bullous pemphigoid, and repeat computed tomography confirmed the recurrence of thymoma. Enzyme-linked immunosorbent assay testing was positive for bullous pemphigoid 180. He has responded well to prednisolone and doxycycline. A 51-year-old woman was reviewed in 2020 and 2021 with pruritic hyperpigmented patches affecting the face, trunk and limbs. Her past medical history included several relapses of thymoma with occurrence in 2002 and relapses in 2007, 2008, 2011, 2015 and 2021. Skin biopsy in June 2021 showed features of cutaneous GVHD. She received ruxolitinib and tapering steroids for thymoma-associated multiorgan autoimmunity (TAMA)-like GVHD and has had a remarkable improvement in her skin disease. Thymoma is described as a rare neoplasm, and up to 34% of thymomas are thought to be accompanied by symptoms of autoimmunity. The most frequently described syndromes include myasthenia gravis, pure red blood cell aplasia and hypogammaglobulinaemia. Other reported presentations include panencephalitis, enterocolitis and autoimmune hepatitis. Thymoma and cutaneous autoimmune presentations have been previously described, often in association with two rare syndromes: TAMA and paraneoplastic autoimmune multiorgan syndrome (PAMS). Both conditions demonstrate variability in clinical phenotype, driven by the activation of humoral and cellular immune responses. Clinically, patients may present with a spectrum of skin disease, including GVHD-like exanthems, lichen planus-like disease and pemphigus-like and pemphigoid-like lesions. Our case series demonstrates the heterogeneous cutaneous manifestations of thymoma-induced autoimmunity. We also describe two extremely rare phenomena accompanying thymomas: TAMA and PAMS. We also suggest that there is much crossover between these syndromes and previous definitions may require further review. This case series also highlights the importance of the wider multidisciplinary team in managing these patients and the complexities of their disease.
DP24 A case of digital papillary adenocarcinoma linked to human papillomavirus-42
Authors: Kallu Amanpreet , Madhwapathi Vidya , Tso Simon , Carr Richard
Published: June 2023

A 60-year-old man with known stage-4 non-small cell lung cancer (NSCLC) and previous right-thumb hidradenoma presented with a 5-month history of a growing vascular lesion on his right great toe. Histology revealed a digital papillary adenocarcinoma (DPA) and positive quantitative polymerase chain reaction (qPCR) for human papilloma virus (HPV)-42 (courtesy of Thomas Wiesner’s research team in Austria). Review of previous histology for the lung and thumb lesions showed histological features consistent with DPA. He re-presented after 2 years with metastatic DPA in his right posterior calf. Following wide local excision (WLE), this locally reoccurred, requiring further excision. Aside from chemotherapy for NSCLC, he was not immunosuppressed and had no history of HPV-related disease. Digital papillary adenocarcinoma is a rare and aggressive neoplasm of sweat glands. Despite being a low-grade tumour, the rates of metastases and reoccurrence are high. Distant metastases are common and can present years after initial presentation. Distant metastases without lymph node spread have been reported. The annual incidence in the USA is ~0.08 cases per 1 000 000, typically presenting in men aged 50–70 years as a solitary lesion on the digits. It can invade muscle, tendons and bone. Owing to its rarity, misdiagnosis and treatment delay are common (Kobayashi T, Hiura A, Oishi K et al. Aggressive digital papillary adenocarcinoma with multiple organ metastases: a case report and review of the literature. Am J Dermatopathol 2016; 38:910–14). Studies show a link between HPV-42 and DPA, with qPCR detecting HPV-42 in known DPA cases (HPV-42 negative in hidradenoma). Human papilloma virus-42 was previously unknown to be oncogenic, and HPV vaccines do not target HPV-42 (Leiendecker L, Neumann T, Jung PS et al. Human papillomavirus 42 drives digital papillary adenocarcinoma and elicits a germ cell-like program conserved in HPV-positive cancers. Cancer Discov 2022; 13:70–84). There are no clear management guidelines and no drug therapy for DPA. Case studies have shown chemotherapy to be ineffective. Management is surgical with either amputation or WLE to avoid reoccurrence or metastases (Leiendecker et al.). Clinical suspicion for DPA should be high given its aggressive nature with regular long-term follow-up to detect reoccurrence or metastases early. More research is required on the epidemiology of this rare tumour in the UK and Europe and on treatment strategy beyond surgical resection, targeting the link between HPV-42 and DPA.
DP25 Widespread subcutaneous nodular kappa light chain amyloidosis
Authors: Elias Jennifer , DeSilva Bernadette
Published: June 2023

A 69-year-old woman was referred to the dermatology department for evaluation of multiple widespread subcutaneous lesions involving the neck, torso and limbs. These lesions, initially diagnosed in the community as lipomas, had been slowly progressing in size and number for 3 years. She had remained systemically well. Her only medical history was essential thrombocythaemia. She took no regular medication. On examination, there were multiple subcutaneous lesions appreciated on palpation with no overlying epidermal change. The patient was experiencing pain in a sciatic distribution. Magnetic resonance imaging of the femur showed a 12-cm enhancing area of subcutaneous nodularity encasing the sciatic nerve. Computed tomography of the chest, abdomen and pelvis showed multiple subcutaneous, ill-defined, soft tissue lesions of the anterior abdominal wall with no lymphadenopathy or organ abnormality. Deep incisional biopsies from two separate locations were completed. There was an unremarkable epidermis and dermis. In the subcutaneous fat, the septae appeared thickened alongside thickened elastic fibres and a prominent multifocal granulomatous reaction with a high degree of elastophagocytosis. There were multifocal aggregates of plasma cells that displayed no cytological atypia. In situ hybridization showed strong kappa light chain restriction. Plasma protein electrophoresis was completed and confirmed a paraprotein band in the gamma region of IgM kappa. Full blood count revealed a high platelet count (585 × 109 cells L–1) but was otherwise unremarkable alongside normal renal and liver function, bone profile, lactate dehydrogenase, B2 microglobulin, Bence–Jones proteins and infection screen. A Congo red stain was performed on the original histological samples. This showed apple green birefringence under polarized light-confirming amyloid. Haematology completed a bone marrow biopsy, which was normal. Referral to the National Amyloid Centre was made. Serum amyloid P scan showed no visceral involvement. A diagnosis of subcutaneous amyloid kappa light chain subtype (AL) was made. The patient has since commenced rituximab, bortezomib (Velcade®), cyclophosphamide and dexamethasone (R-VCD) chemotherapy at 4-weekly intervals over a 4-month period. Primary localized cutaneous amyloidosis is characterized by extracellular deposition of amyloid protein in the skin without evidence of systemic involvement and is often subtyped into macular, papular and nodular. Amyloidoma (tumoral amyloidosis) is rare and defined as a solitary localized deposit of amyloid. There are only four case reports in the literature of multiple subcutaneous amyloid deposits, and only one of these cases was of AL (light chain) vs. amyloid A (AA) subtype. This case showed nodules restricted to the neck (Nguyen TU, Oghalai JS, McGregor DK et al. Subcutaneous nodular amyloidosis: a case report and review of the literature. Hum Pathol 2001; 32:346–8). To our knowledge, this is the first case of widespread kappa light chain subcutaneous amyloidosis.
DS04 Clinical outcomes of the management of basal cell carcinomas in individuals aged 90 years and over
Authors: Nicholls Isabelle , Moncrieff Marc , Patel Martyn , Nobes Jenny , Garioch Jennifer
Published: June 2023

This retrospective cohort study examined our practice for the management of basal cell carcinoma (BCC) in the very elderly, to identify subgroups where intervention could be minimized, based on frailty and trends in survival. All patients aged ≥ 90 years with histologically confirmed BCC during 2017 and 2018 were included within the study (n = 319). Data on lesion characteristics (size, location and subtype), presence or absence of symptoms, patient characteristics (age, comorbidities, frailty score, anticoagulant use and presence of pacemaker) and treatment choice (surgery, radiotherapy, topical, systemic or observation) were collected. Overall survival was the primary endpoint. Age was the most significant predictor of survival [hazard ratio (HR) 1.10, 95% confidence interval (CI) 1.04–1.17; P = 0.001] with a maximum threshold analysis identifying 93 years as the significant age cutoff point. Median survival was 40 months for those aged ≤ 93 years and 28 months for those aged > 93 years (P = 0.002). Patients with dementia had a worse survival than those without [median survival 25 months vs. 35 months (HR 1.92, 95% CI 1.18–3.13); P = 0.009]. None of the 23 individuals with a diagnosis of dementia was alive at 5 years. There was a statistically significant difference in survival for patients who received treatment for their BCC (n = 294) compared with those observed [n = 25; median survival 34 months vs. 21 months (HR 0.54, 95% CI 0.34–0.85); P = 0.007]. There was no difference in survival in individuals with a history of cancer, cardiac or cerebrovascular disease or immunocompromise, compared with those without. Similarly, the use of anticoagulants or presence of pacemaker did not affect survival. Basal cell carcinoma subtype (nodular, infiltrative) did not impact outcomes either, although the difference between lesion size (< 10 mm, ≥ 10 mm) was approaching statistical significance (HR 1.36, 95% CI 0.98–1.87; P = 0.062). No patients required Mohs surgery in the study period. Factors that appeared to influence the preference for primary radiotherapy over surgery were the concurrent use of anticoagulants (P = 0.05) and site of lesion (P = 0.04). All 25 of the lesions treated with radiotherapy were on the head and neck. This study provides evidence in support of the active treatment of BCC in individuals aged ≥ 90 years seen in secondary care. Being fit enough to attend hospital appointments could be seen as a self-selecting process. Conservative options may be preferable in patients with dementia or those > 93 years old. While survival in this cohort is good, accurate assessment of patient frailty is key for selecting those individuals with a poor prognosis to ensure they are not referred for unnecessary intervention.
DS07 (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

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 ∼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 > 20 mm, 38 (36%) demonstrated extension beyond subcutaneous fat, 22 (21%) demonstrated lymphovascular invasion, 24 (23%) demonstrated perineural invasion of nerves > 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 > 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.
DS10 Down to the bone: bone burring under local anaesthesia for skin cancers involving periosteum at the time of Mohs extirpation — a service evaluation and assessment of patient tolerability
Authors: Hunt William , Habaluyas Katrina , Fenwick Sarah , Tabor Dominic , Verykiou Stamatina , Brass David , Oliphant Thomas
Published: June 2023

We present the initial evaluation of bone burring under local anaesthesia (LA) for skin cancers involving periosteum at the time of Mohs extirpation. Bone burring under LA enables patients to have their procedure on the same day. Including the bone burring as part of the Mohs process is logical as we can most accurately assess the location of the involved periosteal tissue. Our evaluation highlights the evolution of our service, our technique, the cost savings and an assessment of patient tolerability with qualitative data. We use a pneumatic De Soutter microdrill with a rose head drill tip. We have evolved to use a crosshatch pass technique with burring to enable the treated field to have two passes bidirectionally. Bone fragments are gathered and sent for histological and immunohistochemical analysis. Local anaesthesia bone burring is rapid, taking < 5 min. At the time of submission, three patients (aged 78–83 years) with skin cancers were offered the option of bone burring under LA. In each case, the bone appeared clinically normal. All tumours were histologically confirmed infiltrative squamous cell carcinomas on the frontal scalp, nasal dorsum and chin, ranging in size from 30 × 22 to 42 × 30 mm. Mohs stages ranged from two to four, all with periosteal involvement confirmed in the Mohs layer with frozen sectioning. At least a week after the procedure, all patients were asked to rate the pain from the bone burring procedure (0 being no discomfort and 10 being intolerable). The patients all reported a value of 0 (no discomfort). All patients confirmed that they would not have chosen differently between having the procedure done under LA vs. GA. The implementation of LA bone burring not only offers greater convenience to often elderly or frail patients, but also confers a considerable cost-saving. Initial outlay with equipment and maintenance costs are minimal, and staffing costs are modest compared with the general anaesthesia approach, when considering the avoided appointments, dermatology theatre staffing and procedure speed. Bone burring under LA represents an effective, safe, well-tolerated and cost-effective method of achieving clear deep margins in cases of tumour periosteal/bone involvement. Bone burring can be undertaken as part of the Mohs process so that the patient can still have the benefit of a definitive surgical reconstruction on the same day.
DS21 Patients’ experience with one-stop skin cancer clinics
Authors: Lam Mun Wai , Jerrom Richard
Published: June 2023

Dermatological surgery has been well integrated into the daily work of a dermatologist, especially in the management of skin cancers. Therefore, dermatologists have to be well prepared to consent patients for their respective surgical procedures. Consent is a medicolegal and ethical requirement prior to any procedure. The General Medical Council has produced guidance outlining seven principles of decision-making and consent. With increasing referrals of suspected skin cancers to secondary care dermatology, it is increasingly common for one-stop clinics to be introduced to tackle the sheer volume—clinics where patients are seen and treated on the same day. There are concerns that such models can diminish patient understanding and the validity of consent. Mr Justice Kearns of the Supreme Court of Ireland stated: ‘As a general principle of good practice, if the treatment is not urgent, patients should be given plenty of time to think about their options before they consent to treatment and be encouraged to ask further questions’. Our department has recently introduced a one-stop skin cancer clinic, and we have conducted a survey to compare patient experiences in those who had same-day skin surgery and those who had a prebooked surgical appointment. The data were collected over a period of 3 months with a total of 80 respondents. All respondents expressed that they had complete understanding of their procedures, 23 of whom had same-day surgery. All 23 respondents who had same-day surgery were comfortable to have same-day surgery, with only six expressing that they felt anxious. When asked if the respondents preferred to have same-day surgery or surgery on other days, 21 of 23 respondents who had same-day surgery preferred to have it on the same day, whereas 34 of 57 of the respondents who had different-day surgery would rather have their surgery on the same day. A total of 69% preferred to have same-day surgery, with three expressing no preference. Our findings reveal that the majority of the respondents preferred to have their procedures on the same day as their clinic consultation and all expressed an adequate understanding of their procedure and felt that they have been given sufficient time to understand and weigh up their options. This suggests that patients have adequate understanding of their procedures, despite being consented and treated on the same day, while also improving their patient experience in a busy department.
DS23 Efficiency and performance of slide stainers during Mohs frozen section processing
Authors: Salence Brogan Kelly , Shams Mohammad , Sounthararajah Peter , Mallipeddi Raj
Published: June 2023

Mohs micrographic surgery (MMS) relies on good-quality, well-stained frozen sections for effective histological analysis. Slides should also be produced as quickly as possible. Automation of complementary devices in the laboratory ensures standardization and efficiency and improves the overall quality of performance. Our study evaluated the efficiency and performance of the Autostainer-XL (Leica) vs. the Linistat (Thermo Scientific) slide stainer within a busy MMS unit. The Autostainer-XL rapidly dries, loads and unloads slides automatically allowing the Mohs-trained biomedical scientist (BMS) to work in parallel on cryotomy. The Autostainer-XL stains slides with haematoxylin and eosin within 10 min and 50 s. In comparison, the Linistat was much slower and required the Mohs-trained BMS to fix the slides manually on a hotplate, place them in industrial methylated spirit, wash them in water and load individual slides into the Linistat, taking 16 min and 45 s to complete the staining process. Two blinded assessors retrospectively reviewed the same set of 50 Linistat-stained and 50 Autostainer-XL stained frozen section slides for consistency in staining. The scoring criteria were based on the modified UK National External Quality Assessment Service (NEQAS) Cellular Pathology Technique Mohs scheme assessment criteria. Each assessor allocated scores between 1 and 5 based on the scoring criteria. The mean quality scores were significantly higher for the Autostainer-XL compared with the Linistat (P < 0.05). In our MMS unit, up to 12 patients undergo MMS daily with an average of seven slides required per patient at the first stage, leading to a high processing burden within the Mohs laboratory, particularly at the first stage. The Autostainer-XL increased productivity, with the ability to load 30 slides per rack, while the Linistat was only able to load six slides per rack. In practice, within our MMS unit, the Autostainer-XL reduced the time taken to produce all slides at the first layer by more than 1 h when compared with the Linistat slide stainer. When surveyed, 100% (n = 8/8) of Mohs-trained BMS in the laboratory preferred the Autostainer-XL than the Linistat, with comments suggesting that it was easy to use, quick, precise and an important device that can withstand the demands of a busy Mohs laboratory. The Autostainer-XL offers improved efficiency and performance, with reduced staining times, an ability to process a larger number of slides and fully customisable automation when compared with the Linistat (Thermo Scientific) slide stainer.