Osteopoikilia in the practice of a rheumatologist

Abstract

Osteopoikilia (OPC) is a rare, benign autosomal dominant disease characterized by sclerotic bone lesions, which usually proceeds asymptomatically. It is usually diagnosed by accident with conventional radiography. In most patients, the disease is asymptomatic, but some may complain of mild joint pain and swelling. Differential diagnoses of the disease include osteoblastic metastases, primary bone tumor, mastocytosis, tuberous sclerosis, synovial chondromatosis and melanostasis. In the literature, we have found reports of the coexistence of OPC with rheumatological diseases such as fibromyalgia, reactive arthritis, familial Mediterranean fever, psoriatic arthritis, rheumatoid arthritis, seronegative spondyloarthritis. Thus, the clinical case we observed is interesting not only from the standpoint of the importance of establishing a clinical diagnosis, but also the timeliness of starting treatment, which affects the prognosis of the disease.