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Bazex–Dupré–Christol Syndrome in a 1‐Year‐Old Boy and His Mother
Author(s) -
BARCELOS ANDREZZA CAMARINHA NAPOLITANO,
NICO MARCELLO MENTA SIMONSEN
Publication year - 2008
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2007.00596.x
Subject(s) - milia , medicine , hypotrichosis , genodermatosis , scalp , dermatology , trunk , basal cell carcinoma , anatomy , nevoid basal cell carcinoma syndrome , pathology , basal cell , biology , ecology , biochemistry , gene
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.