Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia.
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.
Rodrigues
Rui G
RG
Department of Pediatrics, Penn State Milton S. Hershey Medical Center, Hershey, PA 17033-0850, USA. rrodrigues@psu.edu
D000328:Adult; D000368:Aged; D000505:Alopecia / Q000235:genetics; D000848:Anodontia / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D015050:Zygoma / Q000002:abnormalities
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