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GIORNALE ITALIANO DI DERMATOLOGIA E VENEREOLOGIA

A Journal on Dermatology and Sexually Transmitted Diseases


Official Journal of the Italian Society of Dermatology and Sexually Transmitted Diseases
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Giornale Italiano di Dermatologia e Venereologia 1998 June;133(3):199-202

language: Italian

Rapp-Hodgkin syndrome. Different clinical manifestations in a family

Solaroli C., Elia E., Tomasini C., Aloi F.

Università degli Studi - Torino, Dipartimento di Discipline Medico-Chirurgiche, Sezione Dermatologia


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A 23-year old woman with narrow nose, maxillary hypoplasia, cleft lip and palate, hypodontia, dystrophic nails and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination of hair showed longitudinal twisting at irregular intervals, typical of pili torti. Her mother presented only dystrophic nails and hypohidrosis. Rapp-Hodgkin syndrome is an uncommon, autosomal dominant condition characterized by distinctive craniofacial anomalies and cleft lip and palate. In the patients observed, the phenotypical manifestations were different. In fact, the proband showed all the major features of the syndrome, while her mother only onychodysplasia and hypohidrosis. The differential diagnosis between Rapp-Hodgkin syndrome and other forms of ectodermal dysplasia are discussed.

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