Acanthosis Nigricans and Hypochondroplasia in a Child with a K650Q Mutation in FGFR3

Authors


Address correspondence to David R. Berk, M.D., Campus Box 8123, 4921 Parkview Place, St. Louis, MO 63110, or e-mail: dberk@dom.wustl.edu.

Abstract

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.

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