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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-7-2009
Symbol PHTO
Location 4q34-q35
Name primary hypertrophic osteoarthropathy
Other name(s)
  • pachydermoperiostosis, autosomal recessive
  • Touraine-Solente-Gole syndrome
  • cranioosteoarthropathy
  • Corresponding gene HPGD
    Other symbol(s) PDP
    Main clinical features
  • mimics hypertrophic osteoarthropathy secondary to pulmonary or other pathology, early-onset developmental anomalies
  • associated with clubbing, hyperhidrosis, bone and joint pain and skin thickening; radiology revealed typical diaphyseal periostosis and acro-osteolysis
  • cranio-osteoarthropathy, clinically classified as a variant of primary hypertrophic osteoarthropathy, characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis (Seifert 2009)
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease
    Remark(s) Homozygous individuals develop primary hypertrophic osteoarthropathy secondary to chronically elevated prostaglandin E2 levels