The Genetics of Hair Shaft Disorders

In the 2008 article, Cheng and Bayliss reviewed hair shaft defects and associated syndromes, focusing on their genetic causes and clinical presentations. They discussed disorders such as Trichothiodystrophy, Netherton syndrome, Monilethrix, and Pili Torti, detailing the genetic mutations involved and the clinical management of these conditions. The article also covered the genetics of Menkes syndrome and its variant, occipital horn syndrome, which involve mutations in the ATP7A gene affecting copper transport. Woolly hair disorders, curly hair syndromes, and Marie Unna hypotrichosis were mentioned, along with their genetic bases and associated clinical features. Additionally, the document described other hair shaft disorders like Uncombable hair syndrome, Loose anagen syndrome, and Pili annulati, emphasizing the need for ongoing research to develop effective therapies. The document did not provide a cohesive conclusion but served as a resource for understanding the molecular underpinnings of these disorders.