title: Conradi-Hünermann-Happle syndrome.
abstract: A seven-year-old girl was born with red, scaly skin that later evolved into hypopigmentation and follicular atrophoderma in a widespread distribution that followed Blaschko lines. She also had patchy, scarring alopecia, left microphthalmia, bilateral cataracts, dysmorphic facies, short stature, hip dysplasia, and vertebral abnormalities. An elevated plasma 8(9)-cholestenol level confirmed the diagnosis of Conradi-Hünermann-Happle syndrome, which is caused by mutations in the emopamil binding protein (EBP) gene. This reports highlights the evolution of clinical findings over time in this X-linked dominant form of chondrodysplasia punctata.
authors.affiliation: Department of Dermatology, New York University, New York, New York.
authors.forename: Rachael D
authors.initials: RD
authors.lastname: Hartman
authors.forename: Vered
authors.initials: V
authors.lastname: Molho-Pessach
authors.forename: Julie V
authors.initials: JV
authors.lastname: Schaffer
mesh_terms: D000505:Alopecia / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002784:Cholesterol / Q000097:blood; D002806:Chondrodysplasia Punctata / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D003879:Dermatologic Agents / Q000627:therapeutic use; D004485:Eczema / Q000188:drug therapy; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics; D007773:Lactates / Q000627:therapeutic use; D009154:Mutation; D012871:Skin Diseases / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D013251:Steroid Isomerases / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D003879:Dermatologic Agents; D007773:Lactates; D002784:Cholesterol; D013251:Steroid Isomerases; C090445:EBP protein, human