Familial acanthosis nigricans with p.K650T FGFR3 mutation

Kensuke Fukuchi, Kazuki Tatsuno, Kayo Matsushita, Akiharu Kubo, Taisuke Ito, Yoshiki Tokura

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8 Citations (Scopus)

Abstract

Acanthosis nigricans (AN) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and malignancy. Occasionally, this unique skin manifestation is seen in alliance with several skeletal disorders, such Crouzon syndrome, achondroplasia and hypochondroplasia (HCH). These orthopedic disorders are known to have genetic changes in FGFR3. Recently, AN was reported in HCH with p.K650T mutation in FGFR3, and to date, there are only three reports, comprising 18 cases, describing AN harboring this specific gene mutation. Herein, we detail three new cases of AN with p.K650T FGFR3 mutation, and review the 21 known cases.

Original languageEnglish
JournalJournal of Dermatology
DOIs
Publication statusAccepted/In press - 2017

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Keywords

  • Acanthosis nigricans
  • Familial
  • FGFR3
  • Hypochondroplasia
  • P.K650T

ASJC Scopus subject areas

  • Dermatology

Cite this

Fukuchi, K., Tatsuno, K., Matsushita, K., Kubo, A., Ito, T., & Tokura, Y. (Accepted/In press). Familial acanthosis nigricans with p.K650T FGFR3 mutation. Journal of Dermatology. https://doi.org/10.1111/1346-8138.14107