title: Focal dermal hypoplasia: ocular manifestations in a male.
abstract: Focal dermal hypoplasia (Goltz Syndrome) is a rare congenital disorder resulting from ectodermal and mesodermal dysplasia. It involves ocular tissues in over 40% of cases. Considered to be X-linked dominant, the disorder characteristically occurs in females. This case represents, however, the ninth male affected by this disease to be reported in the literature. Ocular abnormalities included colobomatous microphthalmia, aniridia, and recurrent papillomas arising from the conjunctiva and lid margins. Both light and electron microscopic studies performed on papillomatous tissue failed to demonstrate the presence of viral particles. Prometaphase chromosome analysis performed on peripheral blood cells, and on papilloma cells grown in tissue culture, showed a normal male karyotype of 46, XY.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D003230:Conjunctival Neoplasms / Q000235:genetics / Q000473:pathology*; D005142:Eyelid Neoplasms / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D010212:Papilloma / Q000235:genetics / Q000473:pathology*; D013577:Syndrome