A Case of Male Goltz Syndrome
Author(s) -
Bhaswati Ghoshal,
Subhrajit Lahiri,
Debabrata Nandi
Publication year - 2012
Publication title -
case reports in pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2090-6803
pISSN - 2090-6811
DOI - 10.1155/2012/728509
Subject(s) - genodermatosis , medicine , hypoplasia , dermatology , ectodermal dysplasia , surgery , genetics , gene , biology
We present the case of a boy with a clinical diagnosis of Goltz syndrome (focal dermal hypoplasia), a rare genodermatosis characterized by widespread dysplasia of mesodermal and ectodermal tissues. A 9-year-old male patient with Goltz syndrome presented with typical skin lesions along with progressive dimness of vision and mental retardation since birth. It is inherited in an X-linked dominant fashion and is normally lethal in male patients, and so very few male patients, like the index case, have been reported.
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