Other Names for this Disease
- Primary hypertrophic osteoarthropathy
- Idiopathic hypertrophic osteoarthropathy
- Touraine Solente Gole syndrome
- Touraine-Solente-Gole syndrome
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. Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.Pachydermoperiostosis is a rare disorder characterized by
Last updated: 12/19/2011
- Pachydermoperiostosis. National Organization for Rare Disorders (NORD). 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/927/viewAbstract. Accessed 12/19/2011.
- Pachydermoperiostosis. Orphanet. January 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2796. Accessed 12/19/2011.
- 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.
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Pachydermoperiostosis, autosomal recessive
Pachydermoperiostosis, autosomal dominant
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