AUTOSOMAL DOMINANT ECTODERMAL DYSPLASIA
- 1 January 1987
- journal article
- research article
- Vol. 7 (4) , 403-412
Abstract
A three generation family with hypohidrotic ectodermal dysplasia (ED) is presented. Attempts to categorize the disorder in the family as one of the recognized types of ED were unsuccessful. Affected members of the family have mild hypotrichosis, mild hypodontia, and variable degrees of hypohidrosis. Autosomal dominant inheritance is proposed. Scanning electron microscopy on the hair of members of the family is presented. While there is no specific pattern of defects of the hair of affected persons, the cuticular layer is defective and there are longitudinal grooves in the hair shafts.This publication has 18 references indexed in Scilit:
- MENKES DISEASE - (NEW SKIN AND HAIR ULTRASTRUCTURAL ABNORMALITIES)1978
- UNCOMBABLE HAIR SYNDROME - 2 NEW FAMILIAL CASES WITH SCANNING ELECTRON-MICROSCOPIC STUDY1978
- UNCOMBABLE HAIR SYNDROME - PILI-TRIANGULI-ET-CANALICULI1978
- Autosomal recessive hydrotic ectodermal dysplasia.Journal of Medical Genetics, 1977
- Aberrant scalp hair patterning in hypohidrotic ectodermal dysplasiaThe Journal of Pediatrics, 1977
- ECTODERMAL ANHIDROTIC DYSPLASIA1977
- X-linked anhidrotic ectodermal dysplasia with some unusual features.Journal of Medical Genetics, 1976
- Diminished sweat pores in hypohidrotic ectodermal dysplasia: A new method for assessmentThe Journal of Pediatrics, 1968
- Pili torti and sensory neural hearing lossThe Journal of Pediatrics, 1967
- HEREDITARY ANHIDROTIC ECTODERMAL DYSPLASIAArchives of Dermatology and Syphilology, 1949