title: Focal dermal hypoplasia.
abstract: Focal dermal hypoplasia is a rare developmental disorder affecting skin, eyes, teeth, and musculoskeletal system. Focal dermal hypoplasia is transmitted as an X-linked dominant disorder but rare male cases occur due to half chromatid mutations. We report on a male child with focal dermal hypoplasia with skin and eye defects. Association of porencephalic cyst in the brain is also reported.
authors.affiliation: Department of Dermatology, Sassoon General Hospital, Pune, India.
authors.forename: R R
authors.initials: RR
authors.lastname: Sule
authors.forename: D J
authors.initials: DJ
authors.lastname: Dhumawat
authors.forename: M B
authors.initials: MB
authors.lastname: Gharpuray
mesh_terms: D000505:Alopecia / Q000473:pathology; D001284:Atrophy; D001927:Brain Diseases / Q000473:pathology; D002921:Cicatrix / Q000473:pathology; D003560:Cysts / Q000473:pathology; D005142:Eyelid Neoplasms / Q000473:pathology; D005489:Focal Dermal Hypoplasia / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D010212:Papilloma / Q000473:pathology