Frontal fibrosing alopecia: survey of severity assessment methods in routine clinical practice and validation of the International Frontal Fibrosing Alopecia Cooperative Group measurement guidance.

BACKGROUND: The lack of validated and responsive outcome measures in the management of frontal fibrosing alopecia (FFA) significantly limits assessment of disease progression and treatment response over time. AIM: To understand how FFA extent and progression is currently assessed in UK specialist centres, to validate components of the International FFA Cooperative Group (IFFACG) statement on FFA assessment, and to 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 (Questionnaire 1), with assessment repeated 3 months later to assess intraindividual variability (Questionnaire 2) and 12 months later to test whether interindividual accuracy could be improved with simple instruction (Questionnaire 3). RESULTS: All 17 clinicians (100%) completed the questionnaire at each time interval. We identified a wide variation in assessment techniques used by 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 [intraclass coefficient (ICC) = 0.61; 95% CI 0.40-0.85], yet intrarater reliability was found to be poor with wide limits of agreement (-8.71 mm to 9.92 mm) on follow-up. Importantly, when clear guidance was provided on how the hairline should be identified (Questionnaire 3), inter-rater reliability improved significantly, with ICC = 0.70, suggesting moderate agreement (95% CI 0.51-0.89; P < 0.001). A similar pattern was seen with temporal hairline measurements, which again improved in accuracy with instruction. CONCLUSION: We found that accuracy of measurements in FFA can be improved with simple instruction and we have validated components of the IFFACG measurement recommendations.

A unexpected growth arising within nevus sebaceous of Jadassohn.

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.

Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG.

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.

Persistent hypereosinophilia with Wells syndrome.

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).

Two cases of pustular toxic epidermal necrolysis.

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.

Disseminated clustered juvenile xanthogranuloma: an unusual morphological variant of a common condition.

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.

Congenital desmoplastic trichoepithelioma.

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.