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Pachydermoperiostosis

Disease definition

Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy (see this term), a rare hereditary disorder, and is characterized by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme frusta with prominent pachydermia and minimal-to-absent skeletal changes.

ORPHA:2796

  • Synonym(s):
    • PDP
    • Touraine-Solente-Gole syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: M89.4
  • OMIM: 167100  259100  614441
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: 10051686

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