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Congenital Atrichia with Nail Dystrophy, Abnormal Facies, and Retarded Psychomotor Development in Two Siblings: A New Autosomal Recessive Syndrome?
Author(s) -
Vogt Beate R.,
Traupe Heiko,
Hamm Henning
Publication year - 1988
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1988.tb00894.x
Subject(s) - medicine , pediatrics , psychomotor retardation , dermatology , psychomotor learning , dystrophy , nail (fastener) , genetics , psychiatry , pathology , biology , alternative medicine , materials science , cognition , metallurgy
We cared for two sisters, ages 3 and 4 years, who suffered from congenital atrichia. Scalp biopsies performed on both children revealed a marked atrophy of hair follicles with rudimentary hair shafts. The absence of peribulbar infiltrates ruled out alopecia areata. Dystrophy of all nails, distinctive facies, retarded psychomotor development, and a delay in speaking were additional symptoms. The unique combination of findings excludes wellestablished syndromes such as atrichia with papular lesions, GAPO syndrome, and dominant hidrotic ectodermal dysplasia, as well as X‐linked hypohidrotic ectodermal dysplasia. We therefore conclude that we may be dealing with a new genetic entity. The occurrence of the disorder in two siblings with unaffected parents suggests an autosomal recessive mode of inheritance.