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Pachydermoperiostosis

Abstract

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NORD is very grateful to Noralane M. Lindor, MD, Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, for assistance in the preparation of this report.

Synonyms of Pachydermoperiostosis

  • Pachydermoperiostosis Syndrome
  • Rosenfeld-Kloepfer syndrome
  • Touraine-Solente-Gole Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers, thickening of the skin of the face (pachyderma), and excessive sweating (hyperhidrosis). It typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years.

Specific symptoms include enlargement of the fingers and toes (clubbing), a condition in which there is a fibrous covering on the ends of the long bones (periostosis), coarse facial features, increased bulk of the skin on the scalp forming folds, depressions or furrows of the scalp (cutis verticis gyrata), and/or excessive sweating of the hands and feet. Pachydermoperiostosis is the complete or primary form of a more common disorder known as idiopathic primary hypertrophic osteoarthropathy (HOA).

Pachydermoperiostosis Resources

Organizations:

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