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Esperienze Dermatologiche 2011 March;13(1):25-8

Copyright © 2011 EDIZIONI MINERVA MEDICA

language: English, Italian

Focal dermal hypoplasia (Goltz syndrome). A case report

Iandoli R. 1, De Brasi D. 2, Biondi M. 2, Colucci A. R. 2, Rosania C. 2, D’Avanzo M. G. 2

1 Unità Operativa di Dermatologia, Azienda Ospedaliera “San G. Moscati”, Avellino 2 Unità Operativa di Genetica Medica, Azienda Ospedaliera “San G. Moscati”, Avellino


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Focal dermal hypoplasia is a rare hereditary ectomesodermal dysplasia described for the first time by Goltz in 1962. Transmission is tied to the genetic locus Xp11.2 3. About 200 cases have been reported. Women were involved in 90% of the cases, men in 10%. The involvement of more than one organ and function conditions prognosis and demands a multidisciplinary approach with these patients to help them overcome the psychological and functional difficulties deriving from their somatic deformities.

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