Osteopoikilosis: report of a familial case and review of the literature

Tarih
2015Yazar
Korkmaz, Muhammet FurkanElli, Murat
Ozkan, Mehmet Burak
Bilgici, Meltem Ceyhan
Dagdemir, Ayhan
Korkmaz, Merve
Tosun, Fevziye Canbaz
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Osteopoikilosis (OPK) is a benign, rare, asymptomatic osteosclerotic bone dysplasia which is inherited as an autosomal dominant trait. It may develop during childhood and persists throughout life. Diagnosis is usually made incidentally according to radiographs. It may be confused with other conditions, such as osteoblastic metastases. OPK must be in differential diagnosis when multiple, small, well-defined, symmetric bone lesions are identified on plain radiograph to avoid alarming the patient with more serious disease and misdiagnosis. Bone scintigraphy is normal and useful for differential diagnosis. Although it is usually asymptomatic, effusion and joint pain can be found in 15-20 % of patients. In this study, we report a 17-year-old boy who suffers from low back pain and has a mother with similar involvement. He was diagnosed OPK radiologically. We also review the clinical manifestation, pathophysiology, diagnosis and treatment of OPK in this paper.