OSTEOPOIKILOSIS - MANIFESTATIONS OF SKIN AND JOINTS

Osteopoikilosis (Osteopathia condensans disseminata) is a rare and usu ally asymptomatic sclerosing bone dysplasia of unknown origin. Familia l clustering suggests a dominant inheritance. The observation of a 47- year-old woman lead to differential diagnostic considerations in view of the literature on about 350 cases. For 2 years the patient has been complaining about pain and stiffness of both hands with swelling of t he fingers. Additionally, she remarked about bilateral paresthesias co rresponding to the sensory innervation of the median nerve. Clinical e xamination revealed a sensory carpal tunnel syndrome and mild synoviti s of the proximal interphalangeal joints with skin induration and limi ted flexion of the fingers. In addition, some finger and toe nails sho wed pitting and most fingers had scar-like linear skin alterations. Ra diologic findings showed symmetric, well-defined, homogeneous sclerosi ng areas in spongy bone. The combination of symmetrical sclerosing bon e densities, hereditary character, and associated skin and joint manif estations suggests the existence of a general connective tissue diseas e.