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Genetic and Rare Diseases Information Center (GARD)

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Keratosis follicularis spinulosa decalvans


Other Names for this Disease

  • Keratosis follicularis spinulosa decalvans cum ophiasi
  • KFSD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin condition. KFSD is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. The face, neck, and forearms are frequently involved. The thickening of the skin is accompanied by the loss of eyebrows, eyelashes, and hair on the face and head. Allergic reactions (atopy), reduced tolerance of bright light (photophobia), and inflammation of the eye's cornea (keratitis) may also occur. KFSD is thought to be caused by mutations in the SAT1 gene and inherited in an X-linked manner.[1][2]
Last updated: 6/28/2011

References

  1. Ichythyosis, keratosis follicularis spinulosa decalvans. National Organization for Rare Disorders (NORD). 2004; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/540/viewAbstract. Accessed 6/28/2011.
  2. Keratosis follicularis spinulosa decalvans, X-linked; KFSDX. Online Mendelian Inheritance of Man (OMIM) . 2010; http://www.ncbi.nlm.nih.gov/omim/308800. Accessed 6/28/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Keratosis follicularis spinulosa decalvans. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Keratosis follicularis spinulosa decalvans cum ophiasi
  • KFSD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.