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Case Rep Pediatr. 2012;2012:728509. doi: 10.1155/2012/728509. Epub 2012 Oct 18.

A case of male goltz syndrome.

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Pediatric Medicicne, Calcutta National Medical College and Hospital, Kolkata, India.


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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