News Releases & Research Results Study identifies the pathogenic mechanism of porokeratosis ― Reveals that 1 out of 400 Japanese has a congenital predisposition to develop the disease ―

Results of collaborative research and development by Associate Professor Akiharu Kubo of the Department of Dermatology, Keio University School of Medicine and Director Kazuhiko Nakabayashi of the Department of Maternal-Fetal Biology, National Center for Child Health and Development, and others.

• It was made clear that approximately 1 out of 400 Japanese has a congenital predisposition to develop porokeratosis (a disease in which red or brown skin rashes spread over the whole body).
• The study results indicated that approximately 1 out of 400 Japanese has a mutation in a gene called "MVD" which indicates a congenital predisposition to develop porokeratosis, and that cells in which both MVD genes have lost their functions due to acquired mutations cause skin rashes in porokeratosis.
• It is expected that the study results can identify the mechanism by which porokeratosis progresses to skin cancer and lead to the development of ways to prevent and treat porokeratosis.

This research and development was conducted with the support of Program for an Integrated Database of Clinical and Genomic Information, Practical Research Program for Rare/Intractable Diseases "IRUD". by AMED.

The results of research and development were published on August 26 in the online version of Journal of Investigative Dermatology, an academic journal of the Society for Investigative Dermatology.

Kubo A., et al. Clonal expansion of second-hit cells with somatic recombinations or C>T transitions form porokeratosis in MVD or MVK mutant heterozygotes, Journal of Investigative Dermatology
DOI: 10.1016/j.jid.2019.05.020