Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review.

ABSTRACT:

Background

Acanthosis nigricans (AN) is a clinical manifestation featured by velvety brown plaques in skin folds that occurs in some hereditary and syndromic disorders. Fibroblast growth factor receptor 3 (FGFR3) mutations have been identified as one of the genetic causes of inherited AN.

Case presentation

A 17-year-old Chinese female had presented generalized acanthosis nigricans since she was 4 years old. She yielded no family history of short stature or AN. Apart from a short stature, no skeletal defects, neurological defects or other abnormalities were found. To identify the aetiology of the clinically diagnosed AN, we screened the proband for genetic mutations using whole exome sequencing. A heterozygous mutation (c.1949A > C, p.Lys650Thr) in FGFR3 was found in the prob

SUBMITTER: Fu J 

PROVIDER: S-EPMC6329052 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature