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Keratin Disease

Keratin is a strong fibrous protein essential in the development of healthy skin, hair and nails--all body parts that exist external to the human body. Medical studies have linked keratin diseases, or keratin gene mutations to be more specific, to several conditions and diseases. These gene defects appear to alter the infected body part's ability to cope with stressors, potentially leading patients to suffer from some of the conditions discussed below.

  1. Studies of Keratin Gene Mutations

    • Mutations in keratin genes have been closely studied since the early 1990s as a contributing factor leading to a variety of hair and skin conditions. More recently, studies have taken place to explore the role of keratin gene mutation or keratin disease in other diseases affecting internal organs.

    Monilethrix

    • A 2005 Online Mutation Report which appeared in the Journal of Medical Genetics found a link between keratin disease or mutations with the hair condition monilethrix. Monilethrix gives hair a bearded or string-like appearance thanks to periodic hair shaft thinning. Hair shafts become very fragile with this disease, can cause the hair to break, and leads to bald patches or alopecia.

    Keratosis Pilaris

    • Keratosis pilaris is a common skin condition that makes patches of your skin look and feel like sandpaper. While these small bumps do not present a serious condition, keratosis pilaris is certainly not attractive and is difficult to treat. It is believed keratin gene mutations or keratin disease is linked to this condition which fortunately, does not have any long-term health implications.

    Ingrown Hairs

    • Officially referred to as PFB, which stands for pseudofolliculitis barbae, ingrown hairs are caused when a curly hair is shaved and curls under the surface of the skin, rather than penetrating it when growing back. The result is painful, pus-filled sacs under the surface of the skin. Those with coarse curly hair, like many African-Americans, tend to suffer with PFB. Recent studies written about it in the book "International Review Of Cytology: A Survey Of Cell Biology" by Kwang W. Jeon and several others hypothesize that keratin mutations have led to hair texture changes and caused severe PFB cases in Caucasians who do not fit the stereotype of having coarse or curly hair.

    Cryptogenic Cirrhosis and a Potential Keratin Disease Link

    • Cryptogenic Cirrhosis is cirrhosis of the liver whose cause is not known. Defects in keratin genes number eight and 18 (K8/K18) have been found in patients with cryptogenic cirrhosis, according to a 2002 study published in 2003 by the National Academy of Sciences. However, many patients with cryptogenic cirrhosis and those with K8/K18 mutations, however, do not have a liver disease as part of their family history. It is speculated that this absence of a clear family history suggests that these keratin gene mutations predispose people to liver disease, but do not cause it.

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