Pachydermoperiostosis

Common Name(s)

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.  Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pachydermoperiostosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pachydermoperiostosis" returned 40 free, full-text research articles on human participants. First 3 results:

Successful treatment of pachydermoperiostosis patients with etoricoxib, aescin, and arthroscopic synovectomy: Two case reports.
 

Author(s): Hengyan Zhang, Bo Yang

Journal: Medicine (Baltimore). 2017 Nov;96(47):e8865.

 

Pachydermoperiostosis (PDP) is a rare hereditary disorder that affects the skin and bones. PDP is characterized by periostosis, digital clubbing, and pachydermia. Previous studies demonstrated that increased prostaglandin E2 (PGE2) levels resulting from defective protein degradation ...

Last Updated: 31 Dec 1969

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A rare cause of digital clubbing: pachydermoperiostosis.
 

Author(s): Zeineb Alaya, Walid Osman

Journal:

 

Last Updated: 31 Dec 1969

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Facial Manifestations of Pachydermoperiostosis Treated with Botulinum Toxin Type-A: Report of 3 Cases.
 

Author(s): Xiang Wen, Yong Li, Michael R Hamblin, Xian Jiang

Journal: Acta Derm. Venereol.. 2017 06;97(6):761-762.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pachydermoperiostosis" returned 1 free, full-text review articles on human participants. First 3 results:

Pachydermoperiostosis with myelofibrosis and anemia: report of a case of anemia of multifactorial causes and its improvement with steroid pulse and iron therapy.
 

Author(s): H Tanaka, S Maehama, F Imanaka, A Sakai, K Abe, M Hamada, J Yamashita, A Kimura, N Imamura, K Fujimura

Journal: Jpn. J. Med.. ;30(1):73-80.

 

A 26-year-old male patient with pachydermoperiostosis is reported. He had severe anemia with myelofibrosis. Treatment with iron, prednisolone, oxymethorone and 1 alpha (OH)D3 were not satisfactory. But steroid pulse therapy with parenteral iron improved his anemia and pancytopenia, ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.