Pachydermoperiostosis: Primary or idiopathic hypertrophic osteoarthropathy

Abstract

Attention is drawn to the differences and similarities of the two conditions known as idiopathic (primary) and pulmonary (secondary) hypertrophic osteoarthropathy. The typical clinical picture of idiopathic hypertrophic osteoarthropathy, better called pachydermoperiostosis, is described: a familial disorder affecting young males most often, with insidious onset and a usually painless and self-limited course, associated with clubbing of the digits, thickening and furrowing of the skin of face and scalp, periosteal proliferation of long bones, and hyperplasia of the soft-parts of the extremities producing cylindrical enlargement of forearms and legs. Excessive sweating, especially of hands and feet, or rheumatoid joint pains may occasionally cause pronounced discomfort. An affected person may exhibit only one or a few of the features commonly associated with this syndrome. Two patients are described. The first patient's history and findings are characteristic of a moderately severe case. The second patient, with a more unusual form of pachydermoperiostosis, is a thirty-nine year old woman with a “forme fruste” of the disease; facial changes, clubbing and hyperhidrosis are typical, but the patient's sex, the late onset of changes and the absence of periosteal calcification are unusual. The familial incidence of idiopathic clubbing, of cutis verticis gyrata and of idiopathic hypertrophic osteoarthropathy is noted. The possibility is considered that familial clubbing and cutis verticis gyrata are incomplete (monosymptomatic) forms of pachydermoperiostosis. It is emphasized that in the pulmonary type of hypertrophic osteoarthropathy there may be facial skin and scalp changes which are indistinguishable from those seen in pachydermoperiostosis. The possible etiologic role in both conditions of a genetic factor as well as of an identical functional pathogenesis is discussed. The clinical recognition of pachydermoperiostosis as a morbid entity is important since it must be differentiated from pulmonary hypertrophic osteoarthropathy, as well as from other diseases such as acromegaly, leprosy, rheumatoid arthritis, Paget's disease of the bones and syphilitic periostitis.