Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia.

Abstract:

:We describe the findings of anhidrotic/hypohidrotic ectodermal dysplasia in three successive generations of a family. All three women had variable alopecia, anhidrosis, hypodontia and malar hypoplasia. Chromosomal studies revealed a defect of the 2q12 region in all three patients. Previous studies have reported rare cases of autosomal dominant ectodermal dysplasia associated with defects in the 2q11-13 region1. These rare disorders are characterized by common anomalies of at least two elements of the ectoderm and its appendages--namely, the skin, teeth, hair, nails and sweat glands. These patients also frequently have chronic dental problems with early loss of teeth and recurrent lung, ear and nose infections secondary to a defect in mucous membrane function. The majority of reported cases of ectodermal dysplasias have historically been X-linked recessive, but our findings indicate that an autosomal version may be more prevalent than previously thought.

journal_name

J Natl Med Assoc

authors

Rodrigues RG

keywords:

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

99-101

issue

1

eissn

0027-9684

issn

1943-4693

journal_volume

97

pub_type

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