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Pachydermoperiostosis syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Idiopathic hypertrophic osteoarthropathy; Pachydermoperiostosis; Primary hypertrophic osteoarthropathy
SNOMED CT: Pachydermoperiostosis syndrome (88220006); Touraine-Solente-Golé syndrome (88220006); Primary hypertrophic osteoarthropathy (88220006); Pachydermoperiostosis of nail (223726008); Clubbed nail pachydermoperiostosis (223726008); Touraine-Solente-Gole syndrome (88220006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0016620
OMIM®: 259100
OMIM® Phenotypic series: PS259100
Orphanet: ORPHA2796


A form of primary hypertrophic osteoarthropathy, a rare hereditary disorder with characteristics of digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea 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. The disease typically begins during childhood or adolescence and may stabilise after 5-20 years of progression, or progress constantly. Mutations in the HPGD gene (4q33-q34) have been identified. The gene encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH), the main enzyme of prostaglandin degradation. Inherited as an autosomal recessive trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPachydermoperiostosis syndrome
Follow this link to review classifications for Pachydermoperiostosis syndrome in Orphanet.

Professional guidelines


Lu Q, Xu Y, Zhang Z, Li S, Zhang Z
Front Endocrinol (Lausanne) 2023;14:1235040. Epub 2023 Aug 29 doi: 10.3389/fendo.2023.1235040. PMID: 37705574Free PMC Article
Limenis E, Stimec J, Kannu P, Laxer RM
Pediatr Rheumatol Online J 2021 Jul 14;19(1):113. doi: 10.1186/s12969-021-00596-0. PMID: 34261502Free PMC Article
Ihde DC, Minna JD
Curr Probl Cancer 1991 May-Jun;15(3):105-54. doi: 10.1016/0147-0272(91)90012-y. PMID: 1713139

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