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Genetic and Rare Diseases Information Center (GARD)

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Pachydermoperiostosis


Other Names for this Disease

  • Idiopathic hypertrophic osteoarthropathy
  • PDP
  • Primary hypertrophic osteoarthropathy
  • Touraine Solente Gole syndrome
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Overview

Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported.[1] Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.[2]
Last updated: 12/19/2011

References

  1. Pachydermoperiostosis. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/927/viewAbstract. Accessed 12/19/2011.
  2. Pachydermoperiostosis. Orphanet. January 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2796. Accessed 12/19/2011.
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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

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of pachydermoperiostosis. Click on the links below to go to OMIM and review these resources.
    Pachydermoperiostosis, autosomal recessive
    Pachydermoperiostosis, autosomal dominant
  • 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 Pachydermoperiostosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Idiopathic hypertrophic osteoarthropathy
  • PDP
  • Primary hypertrophic osteoarthropathy
  • Touraine Solente Gole syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.