A systematic review of the barriers to diagnosis of vulval lichen sclerosus in primary careClarke, Louise; Leatherland, Rheanne; Simpson, Rosalind C
doi: 10.1093/ced/llaf481pmid: 41205813
BackgroundVulval lichen sclerosus (VLS) is a chronic, inflammatory genital skin condition causing itch, pain, anatomical changes and increased risk of vulval cancer. Diagnostic delay and misdiagnosis are common. Once diagnosed, VLS can be effectively treated using very strong topical corticosteroids. Most women with symptoms of VLS first present to primary care in the UK.ObjectivesTo identify patient and professional perspectives on barriers to diagnosis of VLS in primary care through systematic review and thematic synthesis of the literature.MethodsSeparate literature searches of seven databases relevant to patient and professional perspectives were conducted. Two reviewers screened titles and abstracts, with one performing a full text review. Data extracted were coded ‘line by line’, codes were organized into descriptive themes and subsequently developed into analytical themes.ResultsWe identified 2468 references; a total of 56 studies met inclusion criteria. Six analytical themes were developed: (i) a medically challenging diagnosis; (ii) cultural and social taboos; (iii) education and knowledge gaps; (iv) feelings and attitudes; (v) inadequate health systems; and (vi) challenges in female genital examination.ConclusionsThis review highlights obstacles for women in achieving a diagnosis of VLS. Education and knowledge gaps were reported by clinicians and patients. Clinicians lack knowledge of vulval skin disease and patients lack knowledge of vulval anatomy. Targeted, comprehensive education for clinicians could expedite diagnosis. Dismissive clinician attitudes compound patient feelings of anxiety and embarrassment, reinforcing taboos and stigma. Acknowledgement of embarrassment and stigma validates feelings, improving patient interactions. Future research priorities should include the development of a diagnostic tool and implementation of a complex intervention to expedite diagnosis.
The history, development and current status of isotretinoin: a review articleKhan, Attam; Khan, Corniche; Ahmed, Saim
doi: 10.1093/ced/llaf523pmid: 41378746
Isotretinoin, a potent retinoid, is highly effective in the treatment of severe acne vulgaris. Its nearly 60-year history began with the Swiss pharmaceutical company La Roche in the 1960s, where it was initially studied for potential benefits in cancer treatment. This article delineates the historical trajectory of isotretinoin from early clinical trials in the 1970s and 1980s, highlighting its efficacy and safety profile, leading to US Food and Drug Administration approval in 1982. The review also addresses contemporary concerns such as the drug’s teratogenicity and potential link to depression and provides an overview of regulatory measures and mixed research findings on mental health and sexual dysfunction. The current status of isotretinoin in other medical areas, including its exploration as a chemotherapy adjunct, is examined.
Understanding acral lentiginous melanoma: from the clinic to guidelinesFariyike, Opeoluwa; Johnson, Nicholas A; Craig, Paul; Nobes, Jenny; Levell, Nick J; Venables, Zoe
doi: 10.1093/ced/llaf501pmid: 41219165
Invasive acral lentiginous melanoma (ALM) is a distinct melanoma subtype that primarily affects non-sun-exposed extremities, such as the palms, soles and nail beds. It is characterized by lentiginous proliferation of atypical melanocytes along the basal layer of glabrous skin. While ‘acral melanoma’ is a broad term referring to melanomas arising on acral sites, ‘acral lentiginous melanoma’ specifically refers to this lentiginous subtype. ALM is disproportionately represented among individuals with darker skin phototypes, including Black, Hispanic and Asian populations, in whom it accounts for a higher proportion of melanoma cases than in White populations. While it comprises just 2–3% of all melanomas, ALM has a poorer prognosis, with 5-year melanoma-specific survival rates averaging 80.6%. The pathogenesis of ALM remains incompletely understood. It is not primarily induced by ultraviolet (UV) radiation but is often associated with mechanical stress on weight-bearing or high-friction areas. Recurrent mutations in KIT, NF1, TERT and TP53 are also frequently observed, particularly in older and Asian patients, underscoring ALM’s distinct molecular profile. Diagnosis is often delayed due to its subtle presentation as irregularly pigmented macules or patches. Histologically, ALM demonstrates lentiginous basal proliferation with dermal invasion. Management typically involves wide local excision, although advanced disease may require lymph node surgery, radiotherapy or systemic treatment. Prognosis is influenced by tumour thickness, ulceration and sentinel lymph node involvement. Persistent disparities in outcomes highlight the need for greater awareness, earlier diagnosis and targeted management strategies to address the biological and sociodemographic complexities of ALM.
Nail matrix melanoma in adolescents and young adults: a retrospective dermoscopic studyAkay, Bengü Nisa; Ongun, Feride; Heper, Aylin Okçu; Kırmızı, Bilge Ayça; Alpat, Servet Elçin; Kocyigit, Pelin
doi: 10.1093/ced/llaf550pmid: 41403034
BackgroundNail matrix melanoma (NMM) is a rare subtype of melanoma, accounting for approximately 2–3% of all melanoma cases. Its incidence ranges from 0.3–1.5% in White populations to up to 20% in African and Asian populations. While more common in older adults, its occurrence in patients under the age of 30 years is exceedingly rare. This rarity often leads to delays in diagnosis, particularly in adolescents and young adults presenting with longitudinal melanonychia.ObjectivesTo characterize the clinical, dermoscopic and histopathological features of NMM in patients aged 40 years or younger and to raise awareness about the occurrence of melanoma in this rarely affected age group.MethodsWe retrospectively reviewed all histopathologically confirmed cases of NMM diagnosed at our institution between 2015 and 2025. Patient demographics, clinical presentation, dermoscopic patterns, histological findings and follow-up data were analysed. Nail unit biopsies were performed in a multidisciplinary setting involving a nail surgeon and two dermatopathologists.ResultsFifty-nine patients were diagnosed with NMM, of whom 25 (42%) were aged ≤ 40 years, including 15 patients under 30 years. All patients under 30 years had melanoma in situ. Among the ≤ 40-year age group, 22 (88%) had melanoma in situ and 3 (12%) had invasive melanoma, with a mean Breslow thickness of 1.0 (range 0.7–1.4) mm. Dermoscopy revealed irregular longitudinal lines in 96%, three or more colours in 65%, and disruption of parallelism in 74% of lesions. Spiral melanonychia, a pattern commonly linked to benign naevi, was observed in 26% of cases. In eight patients, serial dermoscopy revealed progressive changes that triggered biopsy. In seven patients, the initial biopsy yielded a nonmalignant or indeterminate diagnosis, and melanoma was confirmed only after progression prompted re-biopsy. Comparative analysis with 64 age-matched patients with nonacral, nonmucosal cutaneous melanomas showed a higher proportion of in situ disease among patients with NMM.ConclusionsNMM can also occur in adolescents and young adults – an age group in which it is often under-recognized. Despite most cases being diagnosed at an early (in situ) stage, delays in diagnosis are common. Clinicians should maintain a high index of suspicion for solitary, atypical longitudinal melanonychia developing after puberty to improve diagnostic accuracy and patient outcomes.
Verrucous venous malformation (subcutaneous variant) mimicking other benign soft tissue tumours; a paediatric case seriesAlarcón-Pérez, Camilo E; Rovira, Carlota; Ivars, Marta; Paco, Sonia; Lavarino, Cinzia; Castillo, Sandra D; Baselga, Eulàlia
doi: 10.1093/ced/llaf564pmid: 41431291
BackgroundVerrucous venous malformation (VVM) is a rare, congenital, slow-flow vascular anomaly, typically involving the dermis and epidermis, with progressive verrucous changes. A recently recognized subcutaneous variant (VVM-SC), which lacks cutaneous involvement, challenges current nomenclature and presents diagnostic difficulties in paediatric patients.ObjectivesTo describe the clinical, imaging, histopathological and molecular features of VVM-SC and highlight diagnostic pitfalls and implications for classification.MethodsThis case series includes three paediatric patients (aged 8–16 years), evaluated between 2021 and 2025 at a tertiary referral centre. All presented with well-demarcated, painless subcutaneous nodules without overlying skin changes. Clinical and imaging assessments favoured benign soft tissue tumours, including lipomas and infantile haemangiomas. One patient received pharmacological treatment based on a presumptive diagnosis of haemangioma. All lesions were surgically excised and evaluated using histopathology, immunohistochemistry and targeted next-generation sequencing.ResultsAll lesions were solitary, skin-coloured or bluish subcutaneous nodules, lacking epidermal alteration. Imaging findings were nonspecific and misleading. Histopathology revealed lobular proliferations of dilated, congested venous channels within fibrous stroma, sparing the dermis and epidermis. One patient exhibited focal perieccrine and subepidermal vascular congestion without epidermal hyperplasia. Immunohistochemical analysis showed diffuse CD31 and CD34 positivity, focal GLUT-1 expression and negativity for D2-40, consistent with a venous phenotype. All cases harboured the recurrent somatic MAP3K3 c.1323C>G (p.Ile441Met) mutation, confirming the diagnosis of VVM-SC. Surgical excision was curative in all patients, with no recurrence observed during follow-up.ConclusionsSubcutaneous VVM lacks the hallmark superficial features of classical VVM and may mimic other paediatric soft tissue tumours, such as lipomas or haemangiomas, leading to diagnostic error and unnecessary treatment. Despite sharing the same MAP3K3 mutation, these lesions differ in depth, clinical presentation and behaviour. We propose reconsidering the terminology, and suggest ‘cutaneous MAP3K3-related slow-flow vascular malformation’ to encompass both superficial and subcutaneous variants. Recognition of this phenotype and its defining features, including focal GLUT-1 expression and MAP3K3 mutation, can support accurate diagnosis and reduce the risk of overtreatment. Further studies are needed to determine whether subcutaneous variants differ in recurrence risk, natural history or systemic associations.
Clinical phenotypes of 504 patients with pustular psoriasis from Europe and Egypt: a multicentre observational studyMostafa, Alshimaa; Arafa, Ahmed; Gohary, Yasser; Anzengruber, Florian; El-Komy, Mohamed; Abdel Hay, Rania; Eid, Amira A; Burri, Elias; Capon, Francesca; Barker, Jonathan; Maul, Julia-Tatjana; Navarini, Alexander A
doi: 10.1093/ced/llaf534pmid: 41403177
BackgroundPustular psoriasis (PP) comprises a group of rare autoinflammatory skin diseases characterized by sterile pustules. Previous studies have focused on cohorts in East Asia and the West, while North African populations have been underrepresented.ObjectivesTo describe the demographic and clinical features of a large cohort of European and Egyptian patients with PP.MethodsWe collected data on 504 patients with PP from 13 centres across Egypt and 5 European countries (Estonia, Germany, Spain, Switzerland and the UK); we then analysed their demographic profiles, clinical presentations and treatment histories.ResultsOf 504 patients with PP (424 Europeans and 80 Egyptians), 78 (15.5%) had generalized pustular psoriasis (GPP), 374 (74.2%) had palmoplantar pustulosis (PPP), 12 (2.4%) had acrodermatitis continua of Hallopeau (ACH) and 40 (7.9%) had other or overlapping PP subtypes. PPP was more prevalent among Europeans than among Egyptians (83% vs. 28%), whereas GPP was more prevalent among Egyptians than among Europeans (60% vs. 7%). Europeans included more women than men (80% vs. 40% with GPP, and 79% vs. 23% with PPP; both P < 0.001). The mean age (SD) of European patients was significantly higher than that of Egyptian patients [59.9 (16.8) vs. 36.1 (18.6) years with GPP and 62.2 (16.4) vs. 40.2 (13.8) years with PPP; both P < 0.001]. European patients with GPP had higher rates of psoriasis vulgaris (PV) than Egyptian patients with GPP (29% vs. 10%; P = 0.043). Treatment patterns varied, with ciclosporin being frequently used in Europe, while treatment with methotrexate and steroids was more common in Egypt.ConclusionsThis study highlights significant variations between European and Egyptian patients with PP. European patients more commonly presented with PPP, whereas Egyptian patients had a higher incidence of GPP and fewer diagnoses of comorbid PV.
Predictive factors for surgical margins in dermatofibrosarcoma protuberans: insights from a retrospective Mohs micrographic surgery analysisJung, Jin Woong; Zhang, Hyun-Soo; Nam, Kyoung Ae; Oh, Byung Ho
doi: 10.1093/ced/llaf183pmid: 40375462
The optimal surgical margin for wide local excision (WLE) of dermatofibrosarcoma protuberans (DFSP) remains controversial. This study aimed to determine appropriate WLE margins through the analysis of Mohs micrographic surgery (MMS) outcomes. We retrospectively analysed 177 patients with DFSP treated with MMS from 2003 to 2023. Logistic regression identified factors associated with histologically clear margins ≥ 1 cm. Receiver operating characteristic analysis determined a tumour size cutoff for predicting wider margins. Larger tumour size, longer disease duration and recurrent status were significantly associated with wider margins. Tumours exceeding 2.8 cm predicted the need for margins ≥ 1 cm. In contrast, a 1-cm margin was generally sufficient for tumours < 2.8 cm without high-risk features (head and neck location, fibrosarcomatous change or recurrent lesions). These findings suggest that a 1-cm margin is probably adequate for low-risk DFSP < 2.8 cm, while MMS remains preferable for larger or high-risk tumours.