[Bazex-Dupré-Christol syndrome. Follicular atrophoderma, multiple basal cell carcinomas and hypotrichosis].
Аннотация
The Bazex-Dupré-Christol syndrome (BDC syndrome) was first described in 1964. Only 14 affected families and 47 patients with this very rare dominant genodermatosis have been reported so far. The three main features of BDC syndrome are (1) follicular atrophoderma, especially on the dorsum of hands and feet, (2) multiple basal cell carcinomas of the face, occurring mainly during the second decade of life, reflecting the clinical relevance of BDC syndrome and (3) congenital generalized hypotrichosis, sometimes with pili torti and trichorrhexis nodosa. The expressivity of the main features varies. Common associated symptoms are milia, calcifying epithelial tumours and hypohidrosis. We present three members of one family with BDC syndrome, a mother and her two sons. In the mother and one son the clinical picture is very typical with all major features, whereas in the other son only follicular atrophoderma and hypotrichosis are present.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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