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Familial acanthosis nigricans with the FGFR 3 mutation: Differences of pigmentation between male and female patients
Author(s) -
Yasuda Masahito,
Morimoto Naoko,
Shimizu Akira,
Toyoshima Takae,
Yokoyama Yoko,
Ishikawa Osamu
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 - 10.1111/1346-8138.14623
Subject(s) - acanthosis nigricans , acanthosis , missense mutation , mutation , proband , basal (medicine) , medicine , endocrinology , biology , dermatology , hyperkeratosis , genetics , gene , obesity , insulin resistance , insulin
Abstract Familial acanthosis nigricans caused by the mutation of the fibroblast growth factor receptor 3 ( FGFR 3 ) gene is characterized by short stature, hypochondroplasia and acanthosis nigricans. We herein report a Japanese family that showed a missense mutation of c.1948A>C (p.K650Q) in FGFR 3 . The pigmentation of acanthosis nigricans was more prominent in male patients than in female patients in this family. We immunohistochemically analyzed the distribution of melanocytes. Although pigmentation in the basal layer was denser in the proband, there was no difference in the distribution and number of melanocytes.