Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant

For a phenotypic description and a discussion of genetic heterogeneity of hypertrophic osteoarthropathy, see 259100.

Also see isolated congenital digital clubbing (119900).

Clinical Features

Touraine et al. (1935) recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes.

Rimoin (1965) observed affected persons in successive generations. Females were much more mildly affected than males.

Inheritance

In a review of 68 published families with PDP, including 204 patients, Castori et al. (2005) found that 37 families showed autosomal dominant inheritance. Autosomal recessive inheritance was suggested in the remaining families.