An Update on the Cutaneous Manifestations of Darier Disease

מאת: Yeshurun A., Ziv M., Cohen-Barak E., Vered S., Rozenman D., Sah M., Khayat M., Polyakov O., Amichai B., Zlotogorski A., Shalev S., Dodiuk-Gad R.P.
פורסם ב: Journal of Cutaneous Medicine and Surgery
תיאור: Background: Knowledge about the clinical features of Darier disease, an orphan autosomal-dominant genetic disorder, is sparse and has been evaluated only in few studies. Objectives: To investigate the clinical features of a large group of patients with Darier disease, and to explore for associations between disease characteristics and severity of the disease. Methods: Seventy-six individuals with Darier disease were evaluated utilizing a structured questionnaire-based interview, a physical examination, and a retrospective assessment of their medical records. Results: The most frequent locations of lesions were hands (99%) and fingernails (93%). Wart-like lesions on the hands were more visible after soaking them in water for 5 minutes, we therefore named this phenomenon the “wet hand sign”. Oral involvement was found in 43% of patients, while 48% of women and 16% of men showed genital lesions. Patients with severe Darier disease had a tenfold greater risk of developing genital lesions than those with mild disease (P =.01). Most patients (88%) in our study exhibited a combination of the four types of the disease patterns of distribution (flexural, seborrheic, nevoid, and acral). Conclusions: Documentation of disease on the hands and fingernails provides a highly sensitive means to aid in the diagnosis of Darier disease. It is important to evaluate mucosal lesions including genital and oral mucosa. © The Author(s) 2021.
SDGs : SDG 03  |  יחידות:   | מועד: 2021 |  קישור