Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 129A, Issue 2, Pages 193-197Publisher
WILEY
DOI: 10.1002/ajmg.a.30188
Keywords
ectodermal dysplasia; hyperhidrosis; keratoderma; onychodysplasia; oligodontia
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We report on three boys, two brothers and their maternal cousin, presenting with dry hair, pilar keratosis, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma and hyperhidrosis of palms and soles. Histology of the skin showed orthokeratotic, hyperkeratosis, hypergranulosis, and mild acanthosis in the epidermis. Scanning electron microscopic examination of the hair showed longitudinal depressions in some hair. These features are close to a rare entity: the odonto-onycho-dermal dysplasia but with some differing features. (C) 2004 Wiley-Liss, Inc.
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