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Three cases of focal dermal hypoplasia (Goltz syndrome)
Author(s) -
Sacoor M. F.,
Motswaledi M. H.
Publication year - 2005
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2004.01647.x
Subject(s) - dermatology , medicine , hypoplasia , family medicine , library science , surgery , computer science
Summary Focal dermal hypoplasia or Goltz syndrome is a rare genodermatosis, characterized by multiple abnormalities of ectodermal and mesodermal origin. It is found predominantly in females and is characterized by hypoplasia of skin and papillomas. Three cases of focal dermal hypoplasia in infancy with unusual inheritance patterns are reported. Cutaneous features were atrophic reticulated scars involving the trunk and extremities following the lines of Blaschko. Papillomas were present on the genitalia and in a peri‐orificial distribution. Skeletal abnormalities included syndactyly, polydactyly and lobster claw deformities. Ophthalmological examination revealed strabismus and retinal colobomas.