bluuebunny/crossref_metadata_2025_split huggingface dataset:
CPC07 Lupus comedonicus: a not so common entity
Authors: Diong Sophie , Wynne Bairbre , Leonard Niamh 
Published: June 2023

Abstract
Lupus comedonicus (LC) is an exceedingly rare variant of chronic cutaneous lupus erythematosus (CCLE), with only 13 reported cases in the literature to date. While its aetiology remains unknown, hallmarks include the presence of comedones on erythematous plaques, particularly in seborrhoeic areas. We report a case of LC involving the scalp, concha bowl and upper back. A 53-year-old female smoker with a 20-pack-year history and previous unprovoked pulmonary embolism presented to dermatology with a 2-year history of alopecia and rash affecting her face and upper back. She was initially reviewed by oral medicine for ulcers, where erythematous buccal mucosal plaques with white striations were seen. The initial biopsy showed a patchy lichenoid inflammatory infiltrate, raising suspicions for lichen planus; however, repeat biopsy highlighted perivascular inflammation and keratin plugging suggestive of lupus. Full skin examination revealed patchy scarring alopecia with perifollicular scale and erythema. Erythematous infiltrated plaques were seen on the face with similar more indurated lesions on the upper back associated with open comedones. The eponymous Shuster sign was observed in the left conchal bowl, with associated follicular occlusion. Laboratory studies all returned within normal limits, including antinuclear antibody titres and complement levels. Differential diagnosis included lupus erythematosus tumidus, discoid lupus erythematosus and LC. Lesional biopsies taken from her back confirmed LC, highlighting lichenoid inflammation involving follicles and interfollicular skin, with superficial and deep perivascular infiltrate. We commenced oral hydroxychloroquine at 200 mg once daily for management, with topical mometasone furoate 0.1% to be used while awaiting its full effect. Smoking cessation has also been advised given the potentially antagonistic effect of smoking with lupus and hydroxychloroquine. Hypotheses of the pathogenesis of LC include the effect of sun exposure. Ultraviolet radiation is known to not only enhance the activity of CCLE but may also contribute to the formation of comedones. Actinic damage alters collagen of normal skin, promoting sebum retention and follicular plugging. Given its infrequency, LC could be mistaken for benign conditions, including acne vulgaris, naevus comedonicus and Favre–Racouchot disease. It is plausible that the small case numbers are due to current underdiagnoses. It is important for dermatologists to be aware of and accurately diagnose LC. Apart from its potentially destructive, scarring complications, especially in untreated and misdiagnosed cases, it is associated with systemic lupus in 30% of cases. Delay in diagnosis and therapeutic management can be associated with significant potential morbidity and even mortality.
CPC08 Cutaneous squamous cell carcinoma and MYH9-associated elastin aggregation (MALTA) syndrome
Authors: Fostier William , Husain Akhtar , Rajan Neil 
Published: June 2023

Abstract
MYH9-associated elastin aggregation (MALTA) syndrome is a rare, inherited, irregular elastin aggregation and sweat duct proliferation syndrome caused by pathogenic variants in MYH9. MALTA syndrome was proposed in 2019, unifying Nicolau Balus and Rombo syndromes as phenotypes arising from pathogenic variants in the same gene, but it has not been associated with cutaneous squamous cell carcinoma (cSCC) [Fewings E, Ziemer M, Hörtnagel K et al. Malta (MYH9 associated elastin aggregation) syndrome: germline variants in MYH9 cause rare sweat duct proliferations and irregular elastin aggregations. J Invest Dermatol 2019; 139:2238–41]. Here, we report the clinical features of a family with a novel MYH9 c.1952A&gt;C p.(Lys651Thr) pathogenic variant, providing evidence that cSCC may be an associated feature of MALTA syndrome. A 57-year-old woman presented with a longstanding skin lesion overlying her left infraorbital ridge, which had been present for 13 years. Lesion biopsy revealed a highly infiltrative tumour within the dermis that was composed of keratocysts with small islands of basaloid cells; immunostaining was positive for CK5/6, CK7, CK19, p63 and BerEP4. These histological features were consistent with a microcystic adnexal carcinoma (MAC)-like ductal proliferation, recognized in MALTA. In addition, she had previously developed one cSCC on her left shoulder and two basal cell carcinomas and had cutaneous milia. Her sister had a history of MAC-like ductal proliferation and cSCC, and her brother had two keratoacanthoma-like cSCCs. The copresentation of MAC-like ductal proliferations and early-onset cSCC in this family prompted targeted genetic testing of MYH9. This identified a heterozygous pathogenic variant in a highly conserved region of MYH9 [c.1952A&gt;C p.(Lys651Thr)] that segregated with the phenotype in all three affected members. MYH9 has previously been identified as an important gene in the pathogenesis of cSCC in a genetic screen in transgenic mice, and our family adds novel clinical data, underscoring its importance in cSCC development (Schramek D, Sendoel A, Segal JP et al. Direct in vivo RNAi screen unveils myosin IIa as a tumor suppressor of squamous cell carcinomas. Science 2014; 343:309–13). Based on the recurrent presentation of early-onset cSCC in three members of this family, we propose the inclusion of cSCC in MALTA syndrome. This has implications for skin cancer surveillance of MYH9 pathogenic variant carriers, and the need to consider MALTA syndrome in patients presenting with multiple early-onset cSCC.
CPC11 Immune checkpoint inhibitor-associated eosinophilic fasciitis: a case report
Authors: Ashraf Mariha , Elmansouri Ahmad , Fremlin Georgina , Hejmadi Rahul , Derrett-Smith Emma 
Published: June 2023

Abstract
A 67-year-old man presented with a 3-month history of skin tightness associated with shooting, burning pains and numbness on both his upper and lower limbs. The patient had a background of metastatic bladder cancer, treated with six cycles of gemcitabine and cisplatin therapy from September 2019 to January 2020. Following this, he also had radical radiotherapy to the bladder, and in August 2020, he started pembrolizumab therapy. Pembrolizumab was paused in February 2022 due to the development of immunotherapy-related myositis. On examination, the patient had visibly shiny and thickened skin bilaterally involving the upper and lower limbs. Symptoms significantly limited the patient’s mobility and daily activities. A skin biopsy showed marked reduction in elastin fibres and mild fibromuscular thickening around the blood vessels, suggestive of scleroderma. Following a joint rheumatology and dermatology multidisciplinary meeting, a diagnosis of eosinophilic fasciitis (EF) secondary to the checkpoint inhibitor pembrolizumab was made. This was further supported by lower limb magnetic resonance imaging, which demonstrated evidence of bilateral oedema of the soleus muscle tendinous junction. Eosinophilic fasciitis is characterized by inflammatory infiltration, thickening and fibrosis involving the fascia. Unlike scleroderma, patients, such as in our case, with EF do not have sclerodactyly, Raynaud phenomenon, telangiectasias or nailfold capillary changes. Clinical manifestations of EF involve sudden onset, and pain and erythema (usually bilaterally) of the affected extremities. Patients have also been known to develop joint contractures, morphoea-like lesions and inflammatory polyarthritis. The reported triggers and causative agents of EF include trauma, autoimmune disorders and drugs. Only 13 cases have been reported secondary to pembrolizumab therapy, and the median time of symptom onset is 12 months following the commencement of checkpoint inhibitor treatment. According to the literature, there may be an underlying diagnosis of a solid tumour, haematological disorder or autoimmune disease. High-dose prednisolone is the primary treatment of choice, followed by methotrexate. However, some patients have shown spontaneous recovery. Our patient has now started a treatment course of high-dose intravenous methylprednisolone and methotrexate. While the therapeutic outcome is too early to report, he has already noticed improvements in skin tightening of the lower limbs.
CPC13 Cutaneous crystal storing histiocytosis
Authors: Brent Geoffrey , Chong Heung , Ffolkes Lorrette , Reddy Hari , Natkunarajah Janakan 
Published: June 2023

Abstract
A 43-year-old woman presented with a 3-year history of a gradually enlarging lesion on the right upper chest. Her comorbidities included ankylosing spondylitis and recurrent anterior uveitis, and she was taking no regular medications. She had no systemic symptoms. She was initially seen by the breast team, who organized an ultrasound that showed chronic inflammation, and a biopsy that showed granulomatous chronic inflammatory tissue. Topical treatment with fucidin was unsuccessful, and she was referred to dermatology. On examination, she had a 3.5 × 4 cm pink subcutaneous nodule on the right upper anterior chest. There was no lymphadenopathy or organomegaly. Investigations revealed low IgA (0.71 g L−1), raised IgM (4.30 g L−1) and mild thrombocytopenia (141 × 109 cells L−1). Full blood count; urea and electrolytes; liver function tests; IgG; lactate dehydrogenase; thyroid stimulating hormone; serum angiotensin-converting enzyme; autoimmune serology, including antinuclear antigen; Borrelia serology; tuberculosis QuantiFERON; ferritin; erythrocyte sedimentation rate; serum protein electrophoresis and urine Bence Jones protein were normal or negative. Chest X-ray and computed tomography of the thorax, abdomen and pelvis did not reveal any evidence of underlying malignancy. Repeat skin biopsy showed a superficial and deep dermal histiocytic infiltrate. At high power, numerous needle-like eosinophilic crystals were seen within the histiocytes. There was a periadnexal and perifollicular infiltrate of lymphocytes and plasma cells. Light chain staining showed that the plasma cells were lambda light chain restricted and were IgM positive and IgG negative. The features were of a crystal-storing histiocytosis. Cutaneous crystal-storing histiocytosis is a rare condition, with only six reported cases. The pathophysiology involves the accumulation of crystalline material within the cytoplasm of histiocytes. It is strongly associated with an underlying haematological malignancy, including multiple myeloma, lymphoplasmacytic lymphoma and monoclonal gammopathy of undetermined significance (Li JJ, Henderson C. Cutaneous crystal storing histiocytosis: a report of two cases. J Cutan Pathol 2015; 42:136–43). In our case, a bone marrow biopsy was not performed given the lack of systemic symptoms, no significant serum paraprotein and normal imaging. The patient is currently being managed with topical clobetasol propionate 0.05% ointment and is under annual haematology surveillance with serum electrophoresis and immunoglobulins.
P02 Galli Galli disease: a rare variant of the genodermatosis Dowling–Degos disease
Authors: Beatty Paula , Menamin Mairin Mc , Wynne Bairbre 
Published: June 2023

Abstract
A 35-year-old woman presented with a 4-year history of a persistent pruritic rash affecting her upper and lower limbs, concerning to the patient for cosmetic reasons. She denied any precipitating factors and reported no improvement with the use of topical clobetasol propionate. Notably, her mother had a similar rash, which had also developed in her 30s and continued to progress over time. Physical examination revealed a bilateral symmetrical papular eruption with superficial scale affecting extensor surfaces of her upper and lower limbs. The patient’s mother was also reviewed and had similar clinical findings, although a more generalized distribution was noted. Skin biopsy from the right thigh of the daughter showed acantholysis in the stratum spinosum with dyskeratotic cells. Biopsy from the left thigh of the patient’s mother showed elongation of rete ridges with foci of increased basal pigmentation and intraepidermal acantholysis. The presence of acantholysis and elongation of rete ridges with basal pigmentation histologically confirmed the diagnosis of the Galli–Galli variant of Dowling–Degos disease (DDD). The genetic basis for DDD involves a heterozygous loss of expression mutation affecting KRT5. Other implicated mutations include POGLUT1, POFUT1 and PSENEN, which are important in melanosome transfer, and the differentiation of melanocytes and keratinocytes. Galli–Galli disease remains a therapeutic challenge. Reported treatments trialled include topical retinoids, oral corticosteroids, and narrowband ultraviolet, although the outcomes have been disappointing. Successful treatment with erbium : yttrium aluminium garnet laser has been reported. Owing to the progressive nature of this condition, patient counselling regarding treatment expectations is important.
P06 Porokeratosis ptychotropica: a rare and recalcitrant genitogluteal eruption
Authors: Dear Kate , Watchorn Richard , Bunker Chris 
Published: June 2023

Abstract
A 45-year-old man with a history of psoriasis presented to our male genital dermatology clinic with a several-year history of pruritic, painful, hyperkeratotic red–brown plaques on both buttocks. He had previously been treated unsuccessfully with cryotherapy and topical imiquimod and podophyllotoxin for suspected condyloma acuminata. A 4-mm punch biopsy from the left buttock showed hyperkeratosis, hypergranulosis, papillomatosis and multiple columns of parakeratin with underlying agranulosis and dyskeratosis, consistent with cornoid lamella formation. A diagnosis of porokeratosis ptychotropica was made. He was treated with Dovobet® ointment and Trimovate® cream, with little improvement. He underwent four cycles of topical photodynamic therapy to his right buttock and two cycles to his left buttock, with minimal improvement. Oral isotretinoin was also trialled, but this led to lipid derangement prior to any observed benefit, so it was stopped. Porokeratosis ptychotropica is a rare and under-recognized variant of porokeratosis, characterized by epidermal keratinization that manifests as keratotic papules in the genitogluteal region. It is often misdiagnosed as psoriasis, tinea cruris or condyloma acuminata, as in our case. Typically, multiple cornoid lamellae are seen on histology (Lucker GP, Happle R, Steijlen PM. An unusual case of porokeratosis involving the natal cleft: porokeratosis ptychotropica? Br J Dermatol 1995; 132:150–1). The aetiology of porokeratosis ptychotropica is unknown, but there is potential for malignant transformation (Mazori DR, Shvartsbeyn M, Meehan SA et al. Transformation of porokeratosis ptychotropica into invasive squamous cell carcinoma. Int J Dermatol 2017; 56:679–80). It is commonly recalcitrant to treatment, with varying reports of success with topical retinoids, keratolytics, tacrolimus, calcipotriol, topical 5-fluorouracil, imiquimod, systemic retinoids, psoralen ultraviolet A, intralesional bleomycin, cryotherapy, photodynamic therapy, excision, dermabrasion and CO2 laser.
P11 Acrodermatitis chronica atrophicans: a sign of late lyme disease
Authors: Morgan Elsa , Wiggins James , Mowbray Megan , Tidman Michael 
Published: June 2023

Abstract
Borrelia infection manifests a variety of signs and symptoms, and its insidiousness and heterogeneity mean that its diagnosis can be delayed. We describe two patients from south-east Scotland who presented with unilateral asymptomatic atrophic areas of skin discoloration. The first was a 71-year-old woman, who presented with a 4-month history of a nonprogressive, mottled, erythematous rash involving her right thigh, buttock and calf. Case 2 was a 56-year-old woman with a 2-year history of an erythematous area of atrophic skin involving the medial aspect of her left thigh and shin. Histology from case 1 showed a normal epidermis with a largely ‘top-heavy’ superficial and deep, predominantly interstitial and focally perivascular, lymphohistiocytic infiltrate, with a predominance of mononuclear histiocytes and with focal extension to deep reticular dermis. Scattered plasma cells were identified, but eosinophils were not a prominent feature. Well-formed granulomas were absent, as were interface dermatitic activity and vasculitic changes. On close questioning, each patient remembered ‘insect’ bites in the vicinity of the cutaneous changes, although neither recalled rashes that could have been consistent with erythema chronicum migrans. In both cases, serology confirmed infection with Borrelia burgdorferi (sensu lato) and diagnoses of acrodermatitis chronica atrophicans (ACA) were made. Both patients responded well to oral treatment with doxycycline. ACA is a cutaneous sign of late-stage Lyme disease and is caused by ongoing active skin infection by tick-borne bacteria of the Lyme disease group of Borrelia species. The tick bite has usually occurred months or years before symptom onset. Typically, there is an early, unilateral inflammatory stage with bluish-red discoloration of the skin and an oedematous appearance. This is followed by an atrophic stage where the skin becomes thin and wrinkled (‘cigarette paper’-like), with the loss of epidermal and dermal structures. Histological features usually include marked atrophy of the epidermis and dermis, loss of adnexal structures and an absence of elastic tissue. A band-like lymphocytic infiltration with plasma cells and mast cells is seen in the dermis, especially in the early stage of disease. Laboratory-confirmed cases of Lyme borreliosis in the UK have risen steadily since reporting began in 1986. ACA is likely to be underdiagnosed and, if there is a clinical suspicion, a detailed history, careful skin examination, Borrelia serology and skin biopsy should be undertaken. Early recognition and treatment reduce the risk of irreversible skin changes and systemic symptoms.
P15 Progressive papulonodular eruption following COVID-19 infection: a rare diagnosis and review of the literature
Authors: Sheppeard Rhian , Austin Stephanie , Morgan Caroline , Ashton-Key Margaret 
Published: June 2023

Abstract
We report a rare case of primary cutaneous CD8+ aggressive epidermotrophic cytotoxic T-cell lymphoma with striking clinical and histopathological features. A 51-year-old man, originally from Cameroon, presented to the department with a 6-week history of a progressive, itchy papulosquamous eruption that started on the lower abdomen shortly following infection with COVID-19. It became widespread over a short number of weeks, with blistering and ulceration in some areas. The patient reported fatigue with an intermittent low-grade pyrexia, but no systemic symptoms otherwise, and he was previously fit and well. Physical examination revealed an extensive, infiltrated papulonodular eruption with thick scale that was more marked in the skinfolds and involving the acral surfaces. Histology from three morphologically different sites showed marked epidermal hyperplasia and a prominent epidermotrophic infiltrate of medium-sized atypical lymphoid cells. There were frequent mitotic figures and evidence of apoptosis. Immunohistochemistry revealed that the atypical lymphoid cells in the epidermis were T cells expressing CD3, CD7 and CD8, together with cytotoxic markers and a high Ki67 proliferation fraction. These features were consistent with a diagnosis of CD8+ aggressive epidermotrophic cytotoxic T-cell lymphoma. Initial bloods and imaging were fairly unremarkable. Since the diagnosis, the patient has been treated with multiple types and courses of chemotherapy, with relapses in between. Most recently, the patient has been referred for total skin electron beam therapy with investigations for allogenic stem cell transplant ongoing. Owing to its rarity, primary cutaneous CD8+ aggressive epidermotrophic cytotoxic T-cell lymphoma is categorized only as a provisional entity in the most recent World Health Organization classification (Gilson D, Whittaker SJ, Child FJ et al. British Association of Dermatologists and U.K. Cutaneous Lymphoma Group Guidelines for the management of primary cutaneous lymphomas 2018. Br J Dermatol 2018; 180:496–526). Despite a variable and polymorphic presentation, the histology is distinctive in showing monomorphous, medium-sized atypical lymphocytes in the epidermis. We discuss the epidemiology of the disease and the paucity of therapeutic guidelines. In addition, our patient’s disease developed soon after COVID-19 infection; hence, we review the growing literature on the association between COVID-19 infection and vaccination and diagnosis, and relapse and remission of cutaneous T-cell lymphoma.
P16 Cutaneous renal cell carcinoma metastasis with scrofuloderma as the initial presentation of metastatic renal cell carcinoma: a diagnostic challenge
Authors: Kothari Rohit 
Published: June 2023

Abstract
Renal cell carcinoma (RCC) with cutaneous metastasis is uncommon and accounts for approximately 3–5% of metastatic RCC, with an unfavourable prognosis. We present an unusual and difficult case of advanced RCC presenting initially with cutaneous metastasis and scrofuloderma, with identical morphology of the lesions. It also highlights the importance of dermatologists in the early diagnosis and management of such cases. A 50-year-old man presented with gradually progressive, multiple erythematous discharging nodules over the right side of his neck of 3 months’ duration. He described a weight loss of 10 kg, intermittent undocumented fever with headache and two episodes of uninvestigated transient haematuria in the last 6 months. He had received multiple courses of antibiotics without any relief. A skin biopsy and immunohistochemistry confirmed cutaneous RCC metastasis with a primary advanced metastatic left RCC, involving the brain as well. A total left nephrectomy was done and he was started on lenvatinib, everolimus and radiotherapy, following which there was suboptimal response and he started developing similar nodular lesions over the left axilla and chest wall, and a puckered crusted plaque over the left lateral abdomen 1 week post treatment. Follow-up at 8 weeks revealed a significant response in the neck lesions; however, the new lesions on the left side did not respond, following which a dermatology consultation was sought again. A skin biopsy from the new lesions confirmed scrofuloderma. Tissue polymerase chain reaction and culture were positive for mycobacterium tuberculosis. He was diagnosed as having scrofuloderma and started on daily isoniazid, rifampicin, ethambutol and pyrazinamide for 2 months followed by daily isoniazid and rifampicin for 4 months. Follow-up at 6 months revealed well-healed lesions, and the systemic symptoms and discharge had abated. The cutaneous metastatic lesions had also healed completely. Here, we present an interesting case of cutaneous RCC metastasis with coexisting scrofuloderma as the initial manifestation of an advanced RCC, posing a diagnostic challenge due to similar morphology. On this background, a recurrence of cutaneous metastasis was the first possibility considered for the new skin lesions. The delay in diagnosis led to significant morbidity in our patient, emphasizing the role of early dermatology consultation in the management of such cases. A high index of suspicion for conditions masquerading as cutaneous metastasis, as well as a lower threshold for skin biopsy, may improve the prognosis dramatically.