title: Infantile bilateral glaucoma in a child with ectodermal dysplasia.
abstract: Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.
authors.affiliation: Maxillo-Facial Surgery and Dentistry, Institute for Maternal and Child Health at IRCCS Burlo Garofolo, Trieste, Italy. mcallea@gmail.com
authors.forename: Michele
authors.initials: M
authors.lastname: Callea
authors.forename: Agatino
authors.initials: A
authors.lastname: Vinciguerra
authors.forename: Colin E
authors.initials: CE
authors.lastname: Willoughby
authors.forename: Laura
authors.initials: L
authors.lastname: Deroma
authors.forename: Gabriella
authors.initials: G
authors.lastname: Clarich
mesh_terms: D000959:Antihypertensive Agents / Q000627:therapeutic use; D002648:Child; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D053331:Ectodysplasins / Q000235:genetics; D006801:Humans; D006871:Hydrophthalmos / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D007429:Intraocular Pressure; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D014065:Tonometry, Ocular
chemical_list: D000959:Antihypertensive Agents; C506018:EDA protein, human; D053331:Ectodysplasins