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Familial acanthosis nigricans with p.K650T FGFR 3 mutation
Author(s) -
Fukuchi Kensuke,
Tatsuno Kazuki,
Matsushita Kayo,
Kubo Akiharu,
Ito Taisuke,
Tokura Yoshiki
Publication year - 2018
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.14107
Subject(s) - acanthosis nigricans , achondroplasia , mutation , medicine , malignancy , fibroblast growth factor receptor , dermatology , cancer research , obesity , fibroblast growth factor , gene , genetics , biology , pediatrics , receptor , insulin resistance
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 FGFR 3 . Recently, AN was reported in HCH with p.K650T mutation in FGFR 3 , 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 FGFR 3 mutation, and review the 21 known cases.