Osteopoikilosis: A case report with review of literature

Abstract

Osteopoikilosis is a rare hereditary condition present as an autosomal dominant trait in families, but can also present as sporadic cases. It is an asymptomatic condition; incidental radiological finding play an important role in its diagnosis. These are symmetrically distributed numerous small, well-defined, homogenous, circular or ovoid radio-densities clustered in epiphysis and metaphysis of long bones in periarticular regions. There is no age and sex affinity; age at the time of diagnosis range from 15 to 60 years. There are no specific clinical features; histological features are similar to the bone island and it may be associated with connective tissue disorders, synovial osteochondromatosis and a rare bone disease melorheostosis; genetically LEMD3 gene mutations are responsible for it. Osteopoikilosis must be differentiated from osteoblastic metastasis, synovial chondromatosis, tuberous sclerosis and mastocytosis. There are three rare complications, which have been reported like-spinal stenosis, dacrocrystitis and malignant transformation.