毛囊是皮肤的附属物,其在整个生命中经历毛发周期。最近,已经鉴定出许多在毛囊中表达的基因,这些基因中的一些变异现在被认为是人类遗传性毛发疾病的基础。遗传性毛发疾病分为非综合征型和综合征型。在日本人口中,常染色体隐性毛发的非综合征形式,这是由脂肪酶H(LIPH)基因的创始人致病变异引起的,是最常见的遗传性毛发疾病。此外,其他类型的遗传性毛发疾病在日本是已知的,比如Marie-Unna遗传性神经增生症,汗症外胚层发育不良,和三鼻指骨综合征.为了确保正确的诊断和适当的病人护理,皮肤科医生必须了解每种头发疾病的特征。阐明遗传性毛发疾病的分子基础可以直接告诉我们哪些基因对人类毛囊的形态发生和发育至关重要。因此,继续“湿实验室”研究这些疾病仍然很重要。迄今为止,在日本,几种遗传性头发疾病的综合征形式已被批准为指定的难治性疾病。作为我们通过卫生部开展的难治性疾病研究项目的一部分,劳工,和日本的福利,我们预计将来会有更多的遗传性毛发疾病被认定为难治性疾病,这将有利于受影响的个人。
The hair follicle is an appendage of the skin that undergoes hair cycles throughout life. Recently, numerous genes expressed in the hair follicles have been identified, and variants in some of these genes are now known to underlie hereditary hair diseases in humans. Hereditary hair diseases are classified into non-syndromic and syndromic forms. In the Japanese population, the non-syndromic form of autosomal recessive woolly hair, which is caused by founder pathogenic variants in the lipase H (LIPH) gene, is the most prevalent hereditary hair disease. In addition, other types of hereditary hair diseases are known in Japan, such as Marie-Unna hereditary hypotrichosis, hypohidrotic ectodermal dysplasia, and tricho-rhino-phalangeal syndrome. To ensure correct diagnoses and appropriate patient care, dermatologists must understand the characteristics of each hair disorder. Elucidation of the molecular basis of hereditary hair diseases can directly tell us which genes are crucial for morphogenesis and development of hair follicles in humans. Therefore, continuation of \"wet laboratory\" research for these diseases remains important. To date, several syndromic forms of hereditary hair diseases have been approved as designated intractable diseases in Japan. As part of our efforts in the Project for Research on Intractable Diseases through the Ministry of Health, Labour, and Welfare of Japan, we anticipate that more hereditary hair diseases be recognized as designated intractable diseases in the future, which will be to the benefit of the affected individuals.