Genetics of Structural Hair Disorders

    November 2012 in “ Journal of Investigative Dermatology ”
    Sivan Harel, Angela M. Christiano
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    TLDR The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
    The document from 2012 reviews the genetic underpinnings of structural hair disorders, identifying over 500 genes associated with skin and hair abnormalities. It details how specific mutations in keratin genes lead to conditions such as monilethrix and ectodermal dysplasia, while mutations in desmosomal proteins and lipid-related genes are linked to hypotrichosis and woolly hair syndromes. Mutations in the HR and APCDD1 genes cause atrichia and hereditary hypotrichosis simplex, respectively. The review also notes that gene positioning can affect hair growth, as seen with TRPS1 gene rearrangements causing hypertrichosis. Furthermore, it discusses the role of Trps1 in trichorhinophalangeal syndromes and how mutations near SOX9 or affecting SOX3 can lead to hypertrichosis. This genetic knowledge is crucial for developing new treatments for hair disorders and may also inform our understanding of related skin conditions. The authors report no conflicts of interest.
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