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Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report Volume 28, issue 3, May-June 2018

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Authors
1 Department of Dermatology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Higashi-ku, Hamamatsu 431-1192, Japan
2 Department of Dermatology, Yamaguchi University Faculty of Medicine and Health Sciences, 1-1 Minami-Kogushi 1-chome, Ube-shi, Yamaguchi 755-8505, Japan
3 Department of Dermatology, Seirei Hamamatsu General Hospital, 2-12-12 Sumiyoshi, Naka-ku, Hamamatsu, Shizuoka 430-8558, Japan
4 Institute of Medical Biology, Agency for Science, Technology and Research (A*STAR), 8A Biomedical Grove, #06-06 Immunos, Singapore 138648

In 2013, we reported the first Japanese case of Marie Unna hereditary hypotrichosis (MUHH) (OMIM 146550), which is a rare type of autosomal dominant hereditary hypotrichosis [1], and only two case reports have been published from Japan [1, 2]. Several studies confirmed that a mutation in the U2HR gene, an upstream regulator of hairless (HR) gene located on chromosome 8p21, is responsible for development of MUHH [3]. This mutation conferred overexpression of HR (gain-of-function) through translational [...]