DOI: 10.36347/sjmcr.2017.v05i04.018

Pages: 286-289

Osteopoikilosis (OPK) is a rare, benign, autosomal dominant disorder, in which sclerotic bone lesions could be found all over the skeleton. Patients are usually asymptomatic; lots of them are discovered incidentally on radiographic images. Loss of-function mutations in LEMD3 gene may be responsible for the lesions. The main differential diagnosis in OPK are mastocytosis, tuberous sclerosis and, osteoblastic metastasis. Bone scintigraphy plays a crucial role in distinguishing OPK from malignant diseases. Since there might be an association between osteopoikilosis and osteosarcoma, clinical follow-up is necessary.