TY - JOUR
T1 - Familial acanthosis nigricans with p.K650T FGFR3 mutation
AU - Fukuchi, Kensuke
AU - Tatsuno, Kazuki
AU - Matsushita, Kayo
AU - Kubo, Akiharu
AU - Ito, Taisuke
AU - Tokura, Yoshiki
PY - 2018/2/1
Y1 - 2018/2/1
N2 - 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.
AB - 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.
KW - FGFR3
KW - acanthosis nigricans
KW - familial
KW - hypochondroplasia
KW - p.K650T
UR - http://www.scopus.com/inward/record.url?scp=85032289390&partnerID=8YFLogxK
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U2 - 10.1111/1346-8138.14107
DO - 10.1111/1346-8138.14107
M3 - Article
C2 - 29068064
AN - SCOPUS:85032289390
SN - 0385-2407
VL - 45
SP - 207
EP - 210
JO - Journal of Dermatology
JF - Journal of Dermatology
IS - 2
ER -
