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

Research output: Contribution to journalArticle

7 Scopus citations

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.

Original languageEnglish
Pages (from-to)664-666
Number of pages3
JournalPediatric Dermatology
Volume27
Issue number6
DOIs
StatePublished - Nov 1 2010

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    Berk, D. R., Del Carmen Boente, M., Montanari, D., Toloza, M. G., Primc, N. B., Prado, M. I., Bayliss, S. J., Pique, L. M., & Schrijver, I. (2010). Acanthosis Nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. Pediatric Dermatology, 27(6), 664-666. https://doi.org/10.1111/j.1525-1470.2010.01331.x