Pain as a Clinical Presentation of Osteopoikilosis

Abstract

Osteopoikilosis, or disseminated condensing osteopathy, is an osteosclerosing dysplasia that is a rare genetic disorder of autosomal-dominant genetic transmission, and recent research suggests that the possible cause of osteopoikilosis might be the loss of function of the LEM domain-containing gene 3 (LEMD3). We describe the case of a young man with arm pain associated with increased volume, functional limitation, and fever who presented to the emergency department. Radiographic and magnetic resonance images are provided, which reveal bilateral periarticular osteosclerotic lesions in the pelvis, humeral head, and scapular region, showing no signs of malignancy.