St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Br J Dermatol. 2023 Jul 17;189(2):154-160. doi: 10.1093/bjd/ljad102.
Genetic hair disorders, also known as genotrichoses, are characterized by abnormalities of hair structure, growth or differentiation, giving rise to a spectrum of phenotypes such as hypertrichosis, hypotrichosis and atrichia. These disorders may present as isolated phenotypes or be part of more complex phenotypes including abnormalities in skin or other organs. Genetic discoveries for hair disorders have been recently augmented with the advent of next-generation sequencing (NGS) technologies. We reviewed the literature and summarized disease-gene associations for inherited hair disorders, as well as genodermatoses presenting with hair abnormalities discovered by NGS technologies. We identified 28 nonsyndromic hair disorders, involving 25 individual genes and four unidentified genes. We have also discovered that approximately 30% of all the genodermatoses that were identified by NGS approaches demonstrated hair abnormalities as part of their phenotype. This review underscores the huge impact of NGS technologies in disclosing the genetics of hair disorders and the potential these discoveries provide for future translational research and new therapies.
遗传性毛发疾病，又称毛干营养障碍，其特征为毛发结构、生长或分化异常，导致一系列表型，如多毛症、少毛症和无毛症。这些疾病可能表现为孤立的表型，也可能是更复杂表型的一部分，包括皮肤或其他器官的异常。随着下一代测序（NGS）技术的出现，遗传性毛发疾病的遗传发现最近得到了补充。我们查阅了文献，总结了遗传性毛发疾病的疾病-基因关联，以及 NGS 技术发现的伴有毛发异常的皮肤遗传病。我们确定了 28 种非综合征性毛发疾病，涉及 25 个单独的基因和 4 个未识别的基因。我们还发现，通过 NGS 方法确定的所有皮肤遗传病中，约有 30%表现出毛发异常作为其表型的一部分。这篇综述强调了 NGS 技术在揭示毛发疾病遗传学方面的巨大影响，以及这些发现为未来转化研究和新疗法提供的潜力。
