primary hypertrophic osteoarthropathy (pachydermoperiostosis)

Genetics

• autosomal recessive
• associated with defects in HPGD

Clinical manifestations

• digital clubbing
• osteoarthropathy
• variable features of pachydermia,
• delayed closure of the fontanels
• congenital heart disease
• usually has a chronic course

Complications

• some patients eventually develop diseases (patent ductus arteriosus, Crohn disease, myelofibrosis) known to be causes of secondary hypertrophic osteoarthropathy many years after the onset of the osteoarthropathy

More general terms

• hypertrophic osteoarthropathy
• genetic disease of bone/skeletal system

Database

• OMIM: https://mirror.omim.org/entry/259100