Format

Send to:

Choose Destination
See comment in PubMed Commons below
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.

Author information

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

Abstract

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.

PMID:
7747764
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk