Barcelos Andrezza Camarinha Napolitano, Nico Marcello Menta Simonsen
Department of Dermatology, Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
Pediatr Dermatol. 2008 Jan-Feb;25(1):112-3. doi: 10.1111/j.1525-1470.2007.00596.x.
Bazex-Dupré-Christol syndrome is a rare genodermatosis with cancer predisposition, characterized by follicular atrophoderma, multiple milia, congenital hypotrichosis, hypohidrosis and basal cell malformations that include nevoid basal cell carcinomas of early onset. We present two patients with this syndrome, a 1-year-old boy with diffuse scalp and eyebrows alopecia, milia papules on the face, ears, trunk, and limbs. Hypohidrosis was observed on his trunk and head. His 16-year-old mother had identical changes since childhood, with hair fragility, and multiple atrophic "ice pick" follicular depressions on the dorsa of her hands. She also had a basal cell carcinoma on her face. Microscopic examination of hairs from the mother revealed abnormalities such as diameter irregularities, broken shafts, trichorrexis nodosa and pili bifurcatti. Pili bifurcatti is an uncommon hair shaft dysplasia that has not before been observed in Bazex-Dupré-Christol syndrome.
巴泽克斯-迪普雷-克里斯托尔综合征是一种罕见的伴有癌症易感性的遗传性皮肤病，其特征为毛囊性皮肤萎缩、多发性粟丘疹、先天性毛发稀少、少汗症以及包括早发性痣样基底细胞癌在内的基底细胞畸形。我们报告了两名患有该综合征的患者，一名1岁男孩，头皮和眉毛弥漫性脱发，面部、耳部、躯干和四肢有粟丘疹。在他的躯干和头部观察到少汗症。他16岁的母亲自童年起就有相同的症状，头发脆弱，双手背部有多个萎缩性“冰锥”样毛囊凹陷。她脸上还有一个基底细胞癌。对母亲头发的显微镜检查发现了异常，如直径不规则、发干断裂、结节性脆发症和分叉发。分叉发是一种罕见的发干发育异常，此前在巴泽克斯-迪普雷-克里斯托尔综合征中尚未观察到。
