Three cases of focal dermal hypoplasia (Goltz syndrome).
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 periorificial distribution. Skeletal abnormalities included syndactyly, polydactyly and lobster claw deformities. Ophthalmological examination revealed strabismus and retinal colobomas.
Sacoor
M F
MF
Department of Dermatology, Medical University of Southern Africa, Pretoria, South Africa. sacoorza@yahoo.com
Motswaledi
M H
MH
D005124:Eye Abnormalities / Q000473:pathology; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000473:pathology; D009139:Musculoskeletal Abnormalities / Q000473:pathology; D010212:Papilloma / Q000473:pathology; D010641:Phenotype; D012878:Skin Neoplasms / Q000473:pathology