Search

BACKGROUND Lack of validated and responsive outcome measures in the management of Frontal Fibrosing Alopecia (FFA) significantly limits our ability to assess disease progression and treatment response over time. OBJECTIVES The aim of this study was to understand how FFA extent and progression is currently assessed in UK specialist centres, validate components of the International FFA Cooperative Group (IFFACG) statement on FFA assessment, and identify pragmatic advice to improve FFA management in clinic. METHODS Consultant Dermatologists with a specialist interest in hair loss (n=17) were invited to take part. Preferred FFA assessment methods were explored using questionnaires and clinical scenarios. Participants were asked to identify and mark the current hairline in 10 frontal and 10 temporal hairline images, with assessment repeated 3 months later (to assess intra-individual variability) and 12 months later (to test whether inter-individual accuracy could be improved with simple instruction). RESULTS All 17 clinicians (100%) completed the questionnaire at each time interval. We identified a wide variation in assessment techniques between our experts. Measurements were perceived as the most accurate method of assessing frontal recession whereas photography was preferred for temporal recession. Inter-rater reliability between clinicians measuring the frontal hairline scenarios indicated a moderate strength of agreement (ICC 0.613; 95% CI: 0.398 to 0.848), yet intra-rater reliability was found to be poor with wide limits of agreement (-8.71mm to 9.92mm) on follow-up. Importantly, when clear guidance was provided on how the hairline should be identified (questionnaire 3), inter-rater reliability improved significantly, with an ICC 0.702 suggesting moderate agreement (95% CI: 0.508 to 0.890; p

Frontal fibrosing alopecia (FFA) is a recently described inflammatory and scarring type of hair loss affecting almost exclusively women. Despite a dramatic recent increase in incidence the aetiopathogenesis of FFA remains unknown. We undertake genome-wide association studies in females from a UK cohort, comprising 844 cases and 3,760 controls, a Spanish cohort of 172 cases and 385 controls, and perform statistical meta-analysis. We observe genome-wide significant association with FFA at four genomic loci: 2p22.2, 6p21.1, 8q24.22 and 15q2.1. Within the 6p21.1 locus, fine-mapping indicates that the association is driven by the HLA-B*07:02 allele. At 2p22.1, we implicate a putative causal missense variant in CYP1B1, encoding the homonymous xenobiotic- and hormone-processing enzyme. Transcriptomic analysis of affected scalp tissue highlights overrepresentation of transcripts encoding components of innate and adaptive immune response pathways. These findings provide insight into disease pathogenesis and characterise FFA as a genetically predisposed immuno-inflammatory disorder driven by HLA-B*07:02., Frontal fibrosing alopecia (FFA) features lichenoid cutaneous inflammation and scarring hair loss. Here, Tziotzios et al. identify four genetic loci associated with FFA by GWAS followed by Bayesian fine-mapping, co-localisation and HLA imputation which highlights HLA-B*07:02 as a risk factor.

Frontal fibrosing alopecia (FFA) was first described by Kossard in 1994 in 6 postmenopausal women.(1) FFA remained rare during the 1990s but in the last 10-15 years it has become increasingly common, a phenomenon observed worldwide. The recent onset and apparent rising incidence of FFA suggest involvement of an environmental factor(s) in the aetiology. We previously reported a questionnaire study in women with FFA that asked about a wide range of medical, social and environmental exposures. This article is protected by copyright. All rights reserved.

The predisposition to epithelial neoplasms in nevus sebaceous is well established; most tumors occur in adults and are benign. Hidradenoma is a relatively rare benign tumor of sweat gland origin that can rarely arise within a nevus sebaceous. We present an interesting case of a hidradenoma and sebaceoma arising within a nevus sebaceous and present a literature review of the 2 conditions. Even though hidradenoma is a benign tumor, we would advocate complete excision given the potential for malignant transformation.

Summary Toxic epidermal necrolysis (TEN) is a life-threatening, immune-mediated reaction, characterized by severe cutaneous and mucosal blisters and erosions. It often presents with flu-like symptoms, followed by a maculopapular, urticarial, purpuric or erythema multiforme-like eruption, which then evolves into blisters and sheet-like erosions. Presentation with pustules, however, is not well described in the English literature, and may lead to delayed diagnosis. We present two unusual cases of TEN that initially presented with pustular lesions.

Background Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. It overlaps phenotypically with other dyschromatoses, but can now be distinguished by mutations in the KIT ligand gene (KITLG). Aim We report two unrelated white families with similar phenotypic presentations of FPHH developing in early childhood in several generations. Methods Sanger sequencing of the exons and flanking introns of KITLG was performed. Results This identified a new heterozygous missense mutation in each family (p.Thr34Asn and p.Val37Gly, respectively). Of the six affected individuals examined by us, two had cancer: a 62-year-old man in family 1 had developed two primary melanomas and a pharyngeal carcinoma, and a 42-year-old woman in family 2 had developed thyroid carcinoma. All had unusually sparse lateral eyebrows, a finding not previously reported in this condition. Conclusions We summarize the genetic spectrum of the dyschromatoses and discuss a possible increased risk of malignancy in FPHH.

Juvenile xanthogranuloma (JXG) is a benign, self-healing non-Langerhans cell histiocytosis of unknown aetiology, most commonly occurring in infants and children. JXG is characterized by solitary or multiple yellowish cutaneous nodules, the two common clinical variants being a small nodular form and large nodular form, which frequently coexist. Unusual morphological presentations include keratotic, lichenoid, pedunculated, subcutaneous, clustered, plaque-like and giant lesions. We describe the first reported case of 'disseminated' clustered juvenile xanthogranuloma presenting in an infant.

Summary Since Wells and Smith first described cases of eosinophilic cellulitis (Wells syndrome; WS) in 1979, it has been noted that some but not all patients with WS present with eosinophilia. In the face of idiopathic persistent eosinophilia patients will also then fall within the hypereosinophilic syndrome (HES), which represents a multifarious spectrum of disorders of varying severity, causes and outcomes. In this article we propose that patients who present within the HES spectrum with cutaneous findings of WS and with no extracutaneous disease be classified as having ‘persistent hypereosinophilia with Wells syndrome’ (PHEWS).

Cutaneous ulceration caused by nicorandil is well described at perianal(1) , anal(2) , peristomal(3) , oral(4) , vulval(5) and cutaneous sites(6) , and most recently on the conjunctiva(7) . We present the first reported cases of nicorandil-induced ulceration on the temple and the nasal mucosa, which were referred as possible skin malignancies. Patient 1 was an 88-year-old gentleman with a 3-week history of a painful ulcer on his left temple. He had been receiving 20mg twice-daily nicorandil for the previous 2 years. This article is protected by copyright. All rights reserved.

Desmoplastic trichoepithelioma (DT) is a rare benign adnexal neoplasm considered to have follicular differentiation. It usually presents as an asymptomatic, firm, annular plaque with a raised border. The most common site of occurrence is the face, usually on the cheek. Females are more often affected than males and the age range of patients previously reported is 8-79 years. We present a case of congenital desmoplastic trichoepithelioma. A girl was born at term to a healthy mother after an uneventful pregnancy and was noted to have widespread erythematous plaques with milia-like lesions over the right scalp, face and neck, with some areas of atrophic scarring. Histology and immunohistochemistry of incisional biopsies of the lesions were consistent with a diagnosis of DT. To our knowledge, this is the first reported case of congenital DT.