Hair follicle-specific keratins and their diseases

Exp Cell Res. 2007 Jun 10;313(10):2010-20. doi: 10.1016/j.yexcr.2007.02.032. Epub 2007 Mar 14.


The human keratin family comprises 54 members, 28 type I and 26 type II. Out of the 28 type I keratins, 17 are epithelial and 11 are hair keratins. Similarly, the 26 type II members comprise 20 epithelial and 6 hair keratins. As, however, 9 out of the 37 epithelial keratins are specifically expressed in the hair follicle, the total number of hair follicle-specific keratins (26) almost equals that of those expressed in the various forms of epithelia (28). Up to now, more than half of the latter have been found to be involved in inherited diseases, with mutated type I and type II members being roughly equally causal. In contrast, out of the 26 hair follicle-specific keratins only 5 have, at present, been associated with inherited hair disorders, while one keratin merely acts as a risk factor. In addition, all hair follicle-specific keratins involved in pathologies are type II keratins. Here we provide a detailed description of the respective hair diseases which are either due to mutations in hair keratins (monilethrix, ectodermal dysplasia of hair and nail type) or hair follicle-specific epithelial keratins (two mouse models, RCO3 and Ca(Rin) as well as pseudofolliculitis barbae).

Publication types

  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Disease Models, Animal
  • Epithelial Cells / metabolism
  • Epithelial Cells / pathology
  • Genetic Predisposition to Disease / genetics*
  • Hair Diseases / genetics*
  • Hair Diseases / metabolism*
  • Hair Diseases / physiopathology
  • Hair Follicle / metabolism*
  • Hair Follicle / pathology
  • Hair Follicle / physiopathology
  • Humans
  • Keratins, Hair-Specific / classification
  • Keratins, Hair-Specific / genetics*
  • Keratins, Hair-Specific / metabolism*
  • Mutation / genetics
  • Racial Groups


  • Keratins, Hair-Specific