Sporadic Bazex-Dupré-Christol-like syndrome: early onset basal cell carcinoma, hypohidrosis, hypotrichosis, and prominent milia.

Abstract

We present the case of a 32-year-old woman with a large recurrent multifocal basal cell carcinoma on the scalp. Conspicuous accompanying symptoms were multiple periorbital milia, hypotrichosis of the body and the scalp, and hypohidrosis. The sparse hair of the scalp showed further abnormalities such as pili torti, as well as flattened, irregularly curly hairs. In 1964, Bazex et al. described a syndrome characterized by congenital hypotrichosis, follicular atrophoderma, and basocellular neoplasms that included basal cell nevi and early onset basal cell carcinomas. The Bazex-Dupré-Christol syndrome is a rare X-linked dominant disease. A sporadic occurrence with the typical constellation of these symptoms has not yet been reported. The lack of a positive family history and no signs of follicular atrophoderma argues for a sporadic occurrence of a Bazex-Dupré-Christol-like syndrome. The case reported shares several features with the classic Bazex-Dupré-Christol syndrome. Our report documents the necessity to look for early development of basal cell carcinomas in patients who show signs of the epidermal malformations described.