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Diseases

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
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

What is pachydermoperiostosis?

How might pachydermoperiostosis be treated?

What is pachydermoperiostosis?

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

How might pachydermoperiostosis be treated?

Treatment for pachydermoperiostosis mainly focuses on the specific signs and symptoms present in each individual.[3] Bone and joint pain may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids or colchicine.[3][4] A vagotomy, a surgical procedure in which certain branches of the vagus nerve are cut, may in some instances improve joint pain and swelling.[3] Skin-related symptoms may be treated with retinoids.[4] Plastic surgery may be performed to improve facial appearance in some individuals.[3] Surgery may also be performed to treat clubbing of fingers and/or toes.[4]
Last updated: 5/9/2012

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.
  3. Pachydermoperiostosis. NORD. November 17, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/927/viewAbstract. Accessed 5/9/2012.
  4. Hermann Girschick. Pachydermoperiostosis. Orphanet. January 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2796. Accessed 5/9/2012.


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.