A Review of Genotrichoses and Hair Pathology Associated with Inherited Skin Diseases

March 2023 in “ British Journal of Dermatology ”

Brent J. Doolan, Tuntas Rayinda, Frank Po‐Chao Chiu, John A. McGrath, Alexandros Onoufriadis

genotrichoses hypertrichosis hypotrichosis atrichia next-generation sequencing genodermatoses genetic hair disorders NGS

TLDR Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.

This review highlights the significant role of next-generation sequencing (NGS) technologies in advancing the understanding of genetic hair disorders, known as genotrichoses. These disorders, which include conditions like hypertrichosis, hypotrichosis, and atrichia, can occur alone or alongside other skin or organ abnormalities. The review identifies 28 nonsyndromic hair disorders linked to 25 specific genes and four unidentified genes. Additionally, it notes that about 30% of genodermatoses identified through NGS exhibit hair abnormalities. The findings emphasize the transformative impact of NGS in uncovering the genetics of hair disorders and the potential for developing new therapies.

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