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Am J Med Genet. 1994 Oct 1;52(4):487-90.

Congenital hypotrichosis and milia: report of a large family suggesting X-linked dominant inheritance.

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  • 1Department of Pediatric Dermatology, Pellegrin Children's Hospital, University of Bordeaux II, France.


We report on a large family of four generations in which individuals have congenital hypotrichosis and multiple milia disappearing by adolescence. The propositus a 30-month-old boy, has coarse, sparse hair and multiple milia on face, chest, axillae and pubic region. At 16 years, his sister has apparently normal hair and few milia persisting on the forehead. The same symptoms were present in the mother from birth and disappeared at 40 years. There are no abnormalities of teeth and nails. Polarizing light microscopy shows an increased diameter of the hair shaft. The pedigree is compatible with an autosomal or an X-linked dominant mode of inheritance.

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