Case Reports in Pediatrics (Jan 2012)

A Case of Male Goltz Syndrome

  • Bhaswati Ghoshal,
  • Subhrajit Lahiri,
  • Debabrata Nandi

DOI
https://doi.org/10.1155/2012/728509
Journal volume & issue
Vol. 2012

Abstract

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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.