The first case report of Palmoplantar keratodermas Vietnamese patient with Nagashima - type

Tóm tắt

Palmoplantar keratodermas (PPKs) are a group of inherited genetic diseases that are associated with clinical manifestations of hyperkeratotic in the palms and the soles. Nagashima - type palmoplantar keratosis (NPPK) was initially described the first in 1977 in Japan as a mild form of PPKs, then the similar cases were reported with a name was NPPK (MIM615598) in Japan and China. The studies on genetic of NPPK found mutations on SERPINB7 gene, this result indicated that NPPK was a genetically distinct entity. Addition, those studies identified on bi-allelic loss of function mutations in the SERPINB7 gene, which encodes a member of the Serine Protease Inhibitor (SERPIN) superfamily, as the genetic basis of NPPK. This is the first case report of a PPK Vietnamese patient with Nagashimatype, had a homozygous frameshift mutation at c.523insT (p.V175fs45*) identified in SERPINB7, this mutation showed on bi-alelles, that suffers from autosomal recessive. More of NPPK Vietnamese are need to sequencing investigations, in order to have an accurate diagnosis of NPPK and molecular epidemiology analysis in Vietnamese population.