Further delineation of the odonto-onycho-dermal dysplasia syndrome.
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.
Mégarbané
Hala
H
Service de Dermatologie, Hôtel-Dieu de France, Beirut, Lebanon.
Haddad
May
M
Delague
Valérie
V
Renoux
Julien
J
Boehm
Nelly
N
Mégarbané
André
A
D000015:Abnormalities, Multiple; D000293:Adolescent; D004476:Ectodermal Dysplasia / Q000473:pathology*; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D006197:Hair / Q000648:ultrastructure; D006801:Humans; D007861:Lebanon; D008126:Lod Score; D008297:Male; D008855:Microscopy, Electron, Scanning; D009264:Nails, Malformed; D018126:Odontodysplasia / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013577:Syndrome; D014070:Tooth / Q000000981:diagnostic imaging
D005819:Genetic Markers