1.
Pediatr Dermatol
; 27(6): 664-6, 2010.
Article
in English
| MEDLINE
| ID: mdl-21510009
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.