Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3

David R Berk; Maria Del Carmen Boente; Daniela Montanari; Maria Guadalupe Toloza; Norma Betriz Primc; Maria Ines Prado; Susan J Bayliss; Lynn M Pique; Iris Schrijver

doi:10.1111/j.1525-1470.2010.01331.x

Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3

Pediatr Dermatol. 2010 Nov-Dec;27(6):664-6. doi: 10.1111/j.1525-1470.2010.01331.x.

Authors

David R Berk¹, Maria Del Carmen Boente, Daniela Montanari, Maria Guadalupe Toloza, Norma Betriz Primc, Maria Ines Prado, Susan J Bayliss, Lynn M Pique, Iris Schrijver

Affiliation

¹ 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

PMID: 21510009
DOI: 10.1111/j.1525-1470.2010.01331.x

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.

Publication types

Case Reports

MeSH terms

Acanthosis Nigricans / complications*
Acanthosis Nigricans / diagnostic imaging
Acanthosis Nigricans / genetics*
Child
Female
Humans
Osteochondrodysplasias / complications*
Osteochondrodysplasias / diagnostic imaging
Osteochondrodysplasias / genetics*
Point Mutation
Radiography
Receptor, Fibroblast Growth Factor, Type 3 / genetics*

Substances

FGFR3 protein, human
Receptor, Fibroblast Growth Factor, Type 3