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

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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