hypertrophic osteoarthropathy—primary—autosomal recessive—1
Definition A form of osteoarthropathy (OMIM:259100) characterised by digital clubbing, periostosis, acroosteolysis, painful joint enlargement, and features of pachydermia including thickened facies and scalp, variably accompanied by delayed closure of the cranial sutures and congenital heart disease.
This condition may be clinically separated from cranioosteoarthropathy (which is characterised by swelling of joints, digital clubbing, hyperhidrosis, delayed closure of fontanels, periostosis, and variable patent ductus arteriosus), in which pachydermia is not a prominent feature. Given that hypertrophic osteoarthropathy—primary—autosomal recessive—1 and cranioosteoarthropathy are both caused by a defect in HPGD, separation of the two may not be a useful exercise.
Molecular pathology Defects of HPGD, which encodes an alcohol dehydrogenase involved in prostaglandin metabolism and inactivation, cause hypertrophic osteoarthropathy—primary—autosomal recessive—1/cranioosteoarthropathy
Synonyms Pachydermoperiostosis—autosomal recessive, PDP—autosomal recessive, PHO—autosomal recessive, PHOAR1, Touraine-Solente-Gole syndrome