title: Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
abstract: Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia. We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia. Genetic analysis revealed a heterozygous K650Q mutation in FGFR3.
authors.affiliation: Departments of Internal Medicine and Pediatrics, Division of Dermatology, Washington University School of Medicine and St. Louis Children’s Hospital, St. Louis, Missouri 63110, USA. dberk@dom.wustl.edu
authors.forename: David R
authors.initials: DR
authors.lastname: Berk
authors.forename: Maria Del Carmen
authors.initials: Mdel C
authors.lastname: Boente
authors.forename: Daniela
authors.initials: D
authors.lastname: Montanari
authors.forename: Maria Guadalupe
authors.initials: MG
authors.lastname: Toloza
authors.forename: Norma Betriz
authors.initials: NB
authors.lastname: Primc
authors.forename: Maria Ines
authors.initials: MI
authors.lastname: Prado
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Bayliss
authors.forename: Lynn M
authors.initials: LM
authors.lastname: Pique
authors.forename: Iris
authors.initials: I
authors.lastname: Schrijver
mesh_terms: D000052:Acanthosis Nigricans / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D017354:Point Mutation; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3