Hayashi Ryota, Shimomura Yutaka
Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.
J Dermatol. 2022 Jan;49(1):55-67. doi: 10.1111/1346-8138.16204. Epub 2021 Oct 21.
Genetic hair disorders, although unusual, are not very rare, and dermatologists often have opportunities to see patients. Significant advances in molecular genetics have led to identifying many causative genes for genetic hair disorders, including the recently identified causative genes, such as LSS and C3ORF52. Many patients have been detected with autosomal recessive woolly hair/hypotrichosis in the Japanese population caused by founder mutations in the LIPH gene. Additionally, many patients with genetic hair disorders caused by other genes have been reported in East Asia including Japan. Understanding genetic hair disorders is essential for dermatologists, and the findings obtained from analyzing these diseases will contribute to revealing the mechanisms of hair follicle morphogenesis and development in humans.
遗传性毛发疾病虽不常见，但并非极为罕见，皮肤科医生常有机会诊治此类患者。分子遗传学的重大进展已促成许多遗传性毛发疾病致病基因的鉴定，包括最近发现的如LSS和C3ORF52等致病基因。在日本人群中，已检测到许多因LIPH基因的奠基者突变导致的常染色体隐性羊毛状毛发/毛发稀少症患者。此外，在包括日本在内的东亚地区，也报道了许多由其他基因引起的遗传性毛发疾病患者。对于皮肤科医生而言，了解遗传性毛发疾病至关重要，分析这些疾病所获的研究结果将有助于揭示人类毛囊形态发生和发育的机制。
