A Case of Male Goltz Syndrome. (18th October 2012)

• Record Type: Journal Article
• Authors: Ghoshal, Bhaswati; Lahiri, Subhrajit; Nandi, Debabrata
• Other Names: Arslan N. Academic Editor.; Weisleder P. Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2012(2012)
• Publication Date: 2012-10-18
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2012/728509
• Languages: English
• ISSNs: 2090-6803

Abstract

Abstract : 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.