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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pachydermoperiostosis


Other Names for this Disease
  • Primary hypertrophic osteoarthropathy
  • Idiopathic hypertrophic osteoarthropathy
  • PDP
  • 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.[1][2] Other features may include congenital heart disease and delayed closure of fontanelles.[2] 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] Treatment is aimed at addressing the specific symptoms present in each individual and may include nonsteroidal anti-inflammatory medications for pain and swelling of joints, retinoid treatment of skin symptoms, and plastic surgery for facial involvement.[1][2] 
Last updated: 7/12/2016

References

  1. Lindor NM. Pachydermoperiostosis. National Organization for Rare Disorders (NORD). 2008; http://rarediseases.org/rare-diseases/pachydermoperiostosis/.
  2. Girschick H. Pachydermoperiostosis. Orphanet. January 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2796.
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Basic Information

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. 
    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
  • Primary hypertrophic osteoarthropathy
  • Idiopathic hypertrophic osteoarthropathy
  • PDP
  • 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.