title: Keratosis pilaris and ulerythema ophryogenes in a woman with monosomy of the short arm of chromosome 18.
abstract: Partial monosomy of the short arm of chromosome 18 (18p- syndrome) is characterized mainly by speech delay, mild to moderate mental retardation and short stature. We describe a patient with the 18p- syndrome and widespread severe keratosis pilaris and ulerythema ophryogenes. This is the fourth case in which such an association has been reported. This association is of considerable interest because it may uncover a candidate genomic region and help to identify the gene responsible for follicular keratinization.
authors: Serviço de Dermatologia, Complexo Hospitalar Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brasil. cac1305@yahoo.com.br
authors: Charles André
authors: CA
authors: Carvalho
authors: André Vicente Esteves de
authors: AV
authors: Carvalho
authors: Andrea
authors: A
authors: Kiss
authors: Giorgio
authors: G
authors: Paskulin
authors: Fernanda Mendes
authors: FM
authors: Götze
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications*; D002887:Chromosomes, Human, Pair 18; D007644:Darier Disease; D005138:Eyebrows / Q000002:abnormalities; D005260:Female; D006801:Humans; D007642:Keratosis / Q000150:complications / Q000175:diagnosis*; D055815:Young Adult