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

Autor: Berk DR; 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, Boente Mdel C, Montanari D, Toloza MG, Primc NB, Prado MI, Bayliss SJ, Pique LM, Schrijver I
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2010 Nov-Dec; Vol. 27 (6), pp. 664-6.
DOI: 10.1111/j.1525-1470.2010.01331.x
Abstrakt: 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.
(© 2010 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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