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.

The review focused on genotrichoses, genetic disorders affecting hair, and their link to inherited skin diseases. It highlighted the role of next-generation sequencing (NGS) in identifying genetic mutations, with 28 nonsyndromic hair disorders involving 25 known genes and four unidentified ones. About 30% of genodermatoses identified through NGS showed hair abnormalities. The review emphasized the importance of understanding these genetic bases for better diagnosis and management, noting that most disorders were autosomal recessive or dominant. It called for further research to explore therapeutic approaches and improve patient outcomes, underscoring the potential of genetic discoveries in developing treatments for hair disorders.

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