TY - JOUR
T1 - Nagashima-type palmoplantar keratosis
T2 - A common Asian type caused by SERPINB7 protease inhibitor deficiency
AU - Kubo, Akiharu
PY - 2014/8
Y1 - 2014/8
N2 - Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive diffuse non-epidermolytic palmoplantar keratosis caused by mutations in SERPINB7, a member of the serine protease inhibitor superfamily. Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries. In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.
AB - Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive diffuse non-epidermolytic palmoplantar keratosis caused by mutations in SERPINB7, a member of the serine protease inhibitor superfamily. Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries. In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.
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U2 - 10.1038/jid.2014.156
DO - 10.1038/jid.2014.156
M3 - Comment/debate
C2 - 25029323
AN - SCOPUS:84904437620
VL - 134
SP - 2076
EP - 2079
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
SN - 0022-202X
IS - 8
ER -