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Further delineation of the odonto–onycho–dermal dysplasia syndrome
Author(s) -
Mégarbané Hala,
Haddad May,
Delague Valérie,
Renoux Julien,
Boehm Nelly,
Mégarbané André
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30188
Subject(s) - hypodontia , acanthosis , hyperkeratosis , dermatology , medicine , ectodermal dysplasia , keratoderma , dyskeratosis , keratosis , tongue , anatomy , pathology , dentistry
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. © 2004 Wiley‐Liss, Inc.