tbuckley/cabot-search huggingface dataset:
DP07 Diagnostic implication of skin biopsy for a rare neurodegenerative disorder
Authors: Holly FitzGerald, Nima Mesbah Ardakani
Journal: British Journal of Dermatology (2024)

Abstract Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder characterized by eosinophilic hyaline intranuclear inclusions in various cells of the central nervous system and extranervous system, including the skin and subcutis. This case report details a 67-year-old man presenting with progressive short-term memory impairment, paranoia, anxiety and bladder dysfunction, leading to a diagnosis of NIID. It emphasizes the utilization of skin biopsy as a diagnostic tool beyond dermatological conditions. NIID is a slowly progressive neurodegenerative disorder associated with diverse clinical manifestations. Despite its heterogeneity, characteristic eosinophilic hyaline intranuclear inclusions in nervous system cells and other organs define the disease. Clinical presentations include pyramidal and extrapyramidal symptoms, dementia, ataxia, autonomic dysfunction, convulsions and neuropathy. A 67-year-old man presented with progressive short-term memory loss, daytime somnolence, paranoia, nocturia and incontinence. Clinical examination revealed a Montreal Cognitive Assessment score of 21/30, with significant points lost in delayed recall. Magnetic resonance imaging indicated increased diffusion-weighted imaging signal at the corticomedullary junction and cerebral hemisphere, suggestive of NIID. Two axillary skin punch biopsies were performed, showing occasional eosinophilic intranuclear inclusions in the nuclei of the epithelial cells lining the sweat glands. These intranuclear inclusions were strongly positive for p62 (ubiquitin) immunostain. In addition, p62-positive intranuclear inclusions were identified in the nuclei of adipocytes, endothelial cells lining dermal and subcutaneous blood vessels, and stromal fibroblasts. NIID is an unusual disease entity with varied clinical phenotypes, including infantile, juvenile and adult-onset forms. The age of onset and dominant symptoms further classify patients. Challenges in antemortem diagnosis historically limited understanding, with postmortem dissection being the primary diagnostic method until 2011. The discovery of intranuclear inclusions in skin biopsies, specifically ubiquitin-positive inclusions in sweat gland cells, adipocytes and fibroblasts, has revolutionized NIID diagnostics. Skin biopsy, although invasive, is preferable to other methods in terms of accessibility, acceptability, complication risk and sensitivity. This case report underscores the significance of skin biopsy in diagnosis beyond dermatological conditions. Further research is needed to enhance understanding, elucidate the pathogenesis, and develop targeted treatments for this complex neurological disorder. Ongoing efforts in research will contribute to a clearer clinical picture and improved management strategies for individuals affected by NIID (Pang J, Yang J, Yuan Y et al. The value of NOTCH2NLC gene detection and skin biopsy in the diagnosis of neuronal intranuclear inclusion disease. Front Neurol 2021; 12: 624321).
DS27 Laser hair depilation therapy for pilonidal sinus disease: a 5-year, retrospective experience in a university teaching hospital in the UK, 2017–2023
Authors: Kashini Andrew, Maya Dyson, Pui Chi Lee, Pooja Patel, Rona Applewaite, Michelle Thomson, Alan M Nevill
Journal: British Journal of Dermatology (2024)

Abstract Pilonidal sinus disease (PSD) is a chronic debilitating condition affecting young adults. Laser hair depilation is an established adjunct to surgical treatment for PSD and can lead to reduced rates of recurrence and postsurgical interventions (Harries RL, Alqallaf A, Torkington J, Harding KG. Management of sacrococcygeal pilonidal sinus disease. Int Wound J 2019; 16: 370–8). This study aimed to assess the outcome of laser hair depilation therapy on disease progression in patients with PSD at the Birmingham Skin Centre, Birmingham, UK. We report retrospective data of 97 patients with PSD referred for laser hair depilation therapy. We collected the patient demographics, clinical stage of PSD, laser types utilized, number of laser sessions, and surgical interventions by reviewing electronic medical records. Most patients affected were male, with a male-to-female ratio of 3.5 : 1. The average age of the patients was 22 years. Most patients had mild PSD in this cohort. Of the 51 patients who completed the treatment, most required between eight and nine laser treatment sessions; 32 had completely healed PSD at the end of their treatment. Patients with early disease required fewer laser treatment sessions than patients with advanced disease, even though it was not statistically significant (P &amp;lt; 0.01). Most of the patients treated were referred for laser hair depilation treatment after having surgical interventions. No complications were reported in this cohort. This study shows that laser hair depilation is a safe and cost-effective adjunct to surgical treatments for PSD, and increasing access to this outpatient noninvasive procedure would be of significant benefit to patients with PSD, as we have demonstrated in our centre.
DP20 A case series identifying the clinical and histopathological characteristics of amelanotic melanoma
Authors: Aroon Sohail, Svetlana Kavaklieva
Journal: British Journal of Dermatology (2024)

Abstract Amelanotic melanoma (AM) is a subtype of melanoma where the lesion demonstrates little to no pigmentation. This can lead to delays in referral due to misdiagnosis, with studies showing a higher mortality rate compared with pigmented melanoma. However, there are few reports in the current literature regarding the characteristics associated with AM. In a 10-year period at a single centre in the north-west of England, patients with a histological diagnosis of AM were enrolled and data were collated retrospectively to determine the characteristics of AM lesions. Of the 16 patients identified, 69% were male, and the mean age at diagnosis was 78 years. The most common location for AM was the head (38%), which also demonstrated a higher mitotic rate (10.7 mm2) compared with the average (7.3 mm2). More than half of the lesions (56%) had been present for &amp;gt; 1 year. With a misdiagnosis rate of 88%, the likelihood of delays was evident. Dermoscopic findings were variable, but conspicuous vessels were noted in 63% of lesions. The most common vessel patterns were linear and irregular vessels, each identified in 19% of cases, with 13% of cases showing arborizing vessels. Our case series has demonstrated that AM is typically diagnosed in the older population, with a greater incidence rate noted in men. The age at diagnosis could be secondary to a delay in referral as AM is commonly not identified, with a misdiagnosis rate of 88% in our series. Lesions were most commonly located on the head region, whereas the back and legs were less commonly affected. This is contrary to melanoma, where the legs are most common for women and the back the most common for men. We suspect that a prolonged exposure of the head region to ultraviolet light is the reason for the highest distribution rate noted in the head. Furthermore, AM of the head was noted to have a greater mitotic rate than the average, potentially indicating more aggressive and lethal disease. The gold standard in clinical assessment is dermoscopic examination, with particular emphasis on identifying abnormal vessel features, a finding amplified due to a lack of pigmentation. We have demonstrated that AM can have a significant misdiagnosis rate with the possibility for a more aggressive cancer to form, potentially leading to unfavourable patient outcomes. We have identified key features of suspicious lesions that require assessment, notably abnormal vessels. Practitioners in primary and secondary care should be aware of and vigilant in identifying AM lesions. All suspicious lesions should undergo histopathological analysis to determine their exact nature.
DP06 (P001) A descriptive, observational and cross-sectional study of clinicoepidemiological, dermoscopic and histopathological aspects of primary localized cutaneous amyloidosis and its effect on the quality of life of the patient
Authors: Meghana Rane, Sunanda Mahajan
Journal: British Journal of Dermatology (2024)

Abstract The aims of this study were to examine the clinicoepidemiological factors related to primary localized cutaneous amyloidosis; to investigate its dermoscopic and histopathological findings; to determine the clinicohistopathological and dermoscopic correlation; and to study its effect on the quality of life of the patients (Al-Ratrout JT, Satti MB. Primary localized cutaneous amyloidosis: a clinicopathological study from Saudi Arabia. Int J Dermatol 1997; 36: 428–34; Rasi A, Khatami A, Javaheri SM. Macular amyloidosis: an assessment of prevalence, sex and age. Int J Dermatol 2004; 43: 898–9). An open, prospective, descriptive and observational study was conducted in patients with primary cutaneous localized amyloidosis suspected clinically. It was carried out for a period of 18 months, with 100 patients in the study. Only patients who gave written informed consent for the study were included. Pregnant and lactating patients were also excluded. Clinical examination with clinical photographs, skin biopsy and dermoscopy of the same lesions was done using a disposable handheld biopsy punch under local anaesthesia. The final diagnosis was then made after compiling all of the clinical, dermoscopic and histopathological features. Microsoft Excel and SPSS version 19 (IBM, Armonk, NY, USA) were used for statistical analysis. Out of the 100 patients, 56 had macular amyloidosis, 33 had lichenoid amyloidosis, eight had biphasic amyloidosis, two had dyschromic amyloidosis and one had primary amyloidosis of the concha. The most common age group was 40–60 years, and the condition was more common in women. A history of use of scrubbing and rubbing while bathing was reported in 45 patients: 33 (73%) of these had macular amyloidosis, nine (20%) had lichenoid amyloidosis, two (4%) had mixed amyloidosis and one (2%) had dyschromic amyloidosis. Pruritus was seen in 92 patients (92%). Dermoscopy of amyloidosis showed a hub-and-spoke pattern and amorphous pigmented globules; 11 patients showed nonspecific pigmented globules and seven showed scales and a central scar pattern. On histopathology of macular amyloidosis, 94 patients showed amyloid deposits stained positively with Congo red. The mean Dermatology Life Quality Index was 3 in macular amyloidosis, and 4 in lichenoid and biphasic amyloidosis. Studies using confocal laser scanning microscopy and direct immunofluorescence could further provide insight and can allow better outcomes. Primary cutaneous amyloidosis has a small-to-moderate effect on the quality of life of patients as it is pruritic and disfiguring. Dermoscopy is a valuable tool to diagnose characteristic features and thus helps to make quick and accurate diagnosis and avoid skin biopsies, as shown in this study.
CPC08 Two fatal cases of fulminant, rapidly progressive interstitial lung disease secondary to MDA5 dermatomyositis
Authors: Narin Shareef, Jana Natkunarajah
Journal: British Journal of Dermatology (2024)

Abstract Anti-MDA5 dermatomyositis (DM) is a rare systemic autoimmune condition associated with clinically amyopathic DM and rapidly progressive interstitial lung disease (RP-ILD). It is associated with unique skin features including cutaneous ulceration, eyelid oedema, palmar papules and mechanic’s hands. We present two challenging cases of anti-MDA5 DM with atypical skin manifestations, complicated by RP-ILD, which unfortunately resulted in death in both patients. The first case is a 47-year-old Egyptian woman who initially presented with erythema and burning sensation of the fingertips, thigh rash, arthralgia, joint swelling, dry cough and reduced exercise tolerance. She was diagnosed with undifferentiated inflammatory arthritis and possible amyopathic DM and started on methotrexate and systemic steroids. An autoimmune panel showed weakly positive rheumatoid factor but negative antinuclear antibodies, extractable nuclear antigen, dsDNA, antineutrophil cytoplasmic antibodies and anti-Jo1. Subsequently she presented to accident and emergency with worsening breathlessness and productive cough and was admitted to the intensive care unit, treated for pneumonia. A high-resolution computed tomography (CT) scan was reviewed at a tertiary multidisciplinary team, showing an RP-ILD picture, most likely due to MDA5 DM. She was started on pulsed intravenous methylprednisolone and transferred to a tertiary centre for extracorporeal membrane oxygenation (ECMO) and consideration of rituximab. Unfortunately, she died shortly after. She demonstrated positive anti-MDA5 serology. The second case is a 60-year-old Chinese woman who initially presented to ophthalmology with left-eye oedema and was diagnosed with preseptal cellulitis. Subsequently, she presented again to accident and emergency with fatigue, unintentional weight loss, and reduced mobility. She was cachectic with ulcerating skin lesions on her shoulders and hips. Initial CT of the chest–abdomen–pelvis showed patchy consolidation in both lungs, with nodularity and ground-glass changes. She developed pyrexia and mild hypoxia and was treated for bilateral pneumonia. During admission, fasciculations in her upper limbs and tongue prompted a neurology review. Nerve conduction studies demonstrated myopathic changes. Creatine kinase was elevated, and magnetic resonance imaging of the lower limbs confirmed diffuse oedema. Concurrently, she was noted to have mechanic’s hands and Gottron papules. She developed severe type 1 respiratory failure, requiring transfer to intensive care. Repeat CT imaging showed worsening bilateral consolidation and ground-glass changes, with pleural effusions. Her rapidly progressive respiratory failure in the context of likely DM prompted urgent referral to a tertiary centre for ECMO and aggressive immunosuppression. Unfortunately, she died 3 weeks later. Autoantibody testing confirmed positive anti-MDA5 and Ro52 antibodies.
DP02 Expression of AMBRA1 and loricrin in the epidermis overlying benign cutaneous naevi, including blue and dysplastic naevi, is similar to that seen in normal skin, but expression may rarely be altered in melanoma <i>in situ</i>
Authors: Akhtar Husain, Penny Lovat, Grant Richardson, Thomas Ness, Claire Jones, Catherine Graham, Marie Labus, Philip Sloan
Journal: British Journal of Dermatology (2024)

Abstract The epidermal expression of AMBRA1 and loricrin overlying primary melanomas has recently been validated as a prognostic biomarker able to identify genuinely low risk nonulcerated American Joint Committee on Cancer stage I/II tumours. We have previously shown that the loss of these biomarkers is due to secretion of transforming growth factor-β2 by the underlying tumour cells, and hypothesize that this mechanism is used by melanomas at risk of metastasis to facilitate premalignant dissemination. The aim of the present study was to evaluate the potential for the combined expression of AMBRA1 and loricrin to characterize a range of melanocytic naevi and melanoma in situ as benign or malignant. Formalin-fixed paraffin-embedded tissue sections were obtained derived from a representative selection of benign naevi and melanoma in situ from the cellular pathology archive of Newcastle upon Tyne Hospitals NHS Foundation Trust. These comprised 5 intradermal naevus, 16 dysplastic naevus (severe/moderate), 5 junctional naevus, 5 compound naevus, 6 common blue naevus, 5 cellular blue naevus, 2 combined naevus, 1 melanocytoma and 26 melanoma in situ. All sections were subjected to automated immunohistochemical analysis for AMBRA1 and loricrin expression. Staining patterns and expression were evaluated using consensus scoring by the study cellular pathologists (A.H., P.S.). All of the benign and dysplastic melanocytic naevi examined showed maintenance of both AMBRA1 and loricrin in the epidermis overlying the lesion, in line with their expression in normal skin. A maintained pattern was also seen in 24 of 26 cases of melanoma in situ, but two cases displayed focal losses of both AMBRA1 and loricrin. On review, both cases showed no evidence of melanoma in further levels and there was no clinical progression. The maintained pattern of AMBRA1 and loricrin was expected in the melanocytic naevi and is consistent with their benign nature. However, loss of expression of AMBRA1 and loricrin in two cases of melanoma in situ was unexpected, suggesting that some cases of melanoma in situ may contain melanocytes with malignant potential. Collectively these data warrant the further investigation of AMBRA1 and loricrin expression in a larger cohort to investigate their potential as biomarkers to distinguish between benign melanocytic lesions and those at risk of malignant progression. This study is funded by the Innovate UK Combined Investor Partnerships Award Round 11 (reference 10083008-1586) awarded to AMLo Biosciences.
DP09 (P002) Inflammatory vitiligo with raised borders: a rare case of pseudolymphoma mimicking hypopigmented mycosis fungoides
Authors: Maged Daruish, Cecilia Grossmith, Saleem Taibjee
Journal: British Journal of Dermatology (2024)

Abstract A 51-year-old woman was referred to our department with a mildly itchy persistent rash that had started 3 years earlier on the back of her thighs, leaving pale skin as it progressed. She noted worsening of the rash during winter months. There was a history of psychological stress preceding the onset of the rash. Clinical examination revealed bilateral symmetrical annular hypopigmented patches with erythematous and slightly scaly raised edges. Symmetrical patches of depigmentation were also seen on her forearms. An incisional biopsy from the left posterior thigh, including the hypopigmented centre and adjacent erythematous rim, revealed unremarkable epidermis corresponding to the hypopigmentation, while the advancing edge showed interface changes with a bandlike lymphohistiocytic infiltrate and prominent lymphocytic exocytosis. The lymphocytes were positive for pan T-cell markers (CD2, CD3, CD5, CD7), with relatively equal CD4 and CD8 populations. melan-A indicated reduced density of melanocytes. There was no evidence of clonality on T-cell receptor (TCR) gene rearrangement studies. Punch biopsy from a depigmented patch on the right forearm was unremarkable on haematoxylin and eosin sections. However, melan-A indicated that the epidermis was completely devoid of melanocytes. The diagnosis of inflammatory vitiligo with raised borders (IVRB) was made. IVRB is a rare subtype of vitiligo that typically presents with a raised erythematous, scaly and pruritic edge surrounding depigmented patches. Differentiating IVRB from hypopigmented mycosis fungoides can be challenging, both clinically and histologically, due to the prominent lichenoid infiltrate with epidermotropism and the predominance of CD8+ lymphocytes that can be found in both. Helpful clues include the characteristic erythematous border, as well as lack of clonality on TCR gene rearrangement studies in IVRB (Gomez-Moyano E, Vera-Casaño A, Gamero AH et al. Inflammatory vitiligo or hypopigmented mycosis fungoides? J Pediatr Hematol Oncol 2010; 32: 338–9). Melanocytes and epidermal melanin are more likely to be preserved in hypopigmented mycosis fungoides [El-Darouti MA, Marzouk S, Azzam O et al. Vitiligo vs. hypopigmented mycosis fungoides (histopathological and immunohistochemical study, univariate analysis). Eur J Dermatol 2006; 16: 17–22]. Clinicopathological correlation is crucial to make the distinction.
DS21 Perils of a 3-mm punch biopsy
Authors: Liana Victory, Ronan Brady, Claire Quigley, Barry Kevane, Fergal Moloney
Journal: British Journal of Dermatology (2024)

Abstract An 83-year-old woman underwent a 3-mm diagnostic punch biopsy from a Bowenoid patch on her right cheek. Her medical background was significant for invasive cholangiocarcinoma and she was on active treatment with gemcitabine under the care of oncology. In terms of anticoagulation she was on aspirin 75 mg as a preventative measure. Unfortunately, the patient developed ongoing bleeding from the biopsy site and presented to the emergency department. She was reviewed in the emergency department, the wound was sutured and haemostasis was noted. Over the next few days, she had progressive bleeding from the biopsy site. A plastic surgeon was consulted and the site was examined, cauterized and resutured. During the procedure haemostasis was achieved. The patient was discussed with haematology, and tranexamic acid for 3 days was recommended and aspirin was held. Routine bloods and a coagulation screen were sent. It was noted there was an isolated prolongation of the activated partial thromboplastin time. A diagnosis of acquired factor VIII deficiency was made following a coagulation screen in the department. She was transferred to the National Coagulation Centre for management and replacement of factor VIII. She was commenced on prophylactic FEIBA (anti-inhibitor coagulant complex) intravenous three times per week. Acquired haemophilia A is a rare but severe autoimmune bleeding disorder caused by circulating autoantibodies that inhibit the coagulant activity of factor VIII. It is more frequent in older patients and is associated with several conditions such as malignancies, the postpartum period, autoimmune diseases and drug exposure. This is a rare presentation; however, it highlights the risks involved with even minor dermatological surgical procedures and the importance of consenting patients for these possible complications.