Mutational analysis of palmoplantar keratoderma caused by keratin 6c mutation

2014 Fiscal Year Final Research Report

• Project/Area Number: 25860929
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Hirosaki University
• Principal Investigator: AKASAKA Eijiro 弘前大学, 医学部附属病院, 助教 (30436034)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: ケラチン6C / 掌蹠角化症 / 遺伝子 / 変異

Outline of Final Research Achievements

The palmoplantar keratodermas (PPKs) are a large group of genodermatoses characterized by hyperkeratosis on the palms and soles. Recently, mutations of KRT6C , coding keratin 6c, have been identified in families with focal PPK. We previously reported a first Japanese PPKs pedigree harboring a novel KRT6C mutation. The aim of this study was to analyze the differences of clinical manifestations between PPKs with KRT6C mutations and other PPKs, to elucidate the pathogenicity of PPKs, and to establish a novel therapy of PPKs. In this study, we revealed that KRT6C mutations generally can cause focal PPK, exceptionally diffuse PPK, without nail lesions or ectodermal abnormality. However, KRT6C mutations were detected only 5 PPKs cases so far. Further accumulation of PPKs cases is necessary to clarify how keratin 6c mutation induce focal PPK. In addition, we have to continue to make an effort to establish PPKs model mice which have a KRT6C mutation to develop novel therapy for PPKs.

Free Research Field

皮膚科学