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J Am Acad Dermatol. 2008 Jul;59(1):1-22; quiz 23-6. doi: 10.1016/j.jaad.2008.04.002.

The genetics of hair shaft disorders.

Author information

  • 1Department of Dermatology, Saint Louis University School of Medicine, Saint Louis, Missouri 63104, USA. amscheng@hotmail.com


Many of the genes causing hair shaft defects have recently been elucidated. This continuing medical education article discusses the major types of hair shaft defects and associated syndromes and includes a review of histologic features, diagnostic modalities, and findings in the field of genetics, biochemistry, and molecular biology. Although genetic hair shaft abnormalities are uncommon in general dermatology practice, new information about genetic causes has allowed for a better understanding of the underlying pathophysiologies.

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