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Acanthosis Nigricans and Hypochondroplasia in a Child with a K650Q Mutation in FGFR3
Author(s) -
BERK DAVID R.,
DEL CARMEN BOENTE MARIA,
MONTANARI DANIELA,
TOLOZA MARIA GUADALUPE,
PRIMC NORMA BETRIZ,
PRADO MARIA INES,
BAYLISS SUSAN J.,
PIQUE LYNN M.,
SCHRIJVER IRIS
Publication year - 2010
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2010.01331.x
Subject(s) - acanthosis nigricans , medicine , short stature , achondroplasia , dysplasia , mutation , dermatology , pediatrics , genetics , endocrinology , obesity , biology , gene , insulin resistance
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 .