A rare genetic disorder of osteopoikilosis

Abstract

A 30-year-old male patient admitted to a hospital experienced pain in the left knee for 10 years and right knee for 1 month which increased strenuous activity, with a history of COVID-19 1 year back. Multiple areas of sclerosis were seen on epiphysio metaphyseal area in the X-rays of the bilateral knee and the hip joints (A, B). In the X-ray of the vertebra, lipping of vertebrae was seen (C). Sclerotic lesions were seen in (A, B, C, D). The clinical signs and radiological features, sclerotic lesions, and low bone mineral density levels, all led to the diagnosis of a rare genetic case of osteopoikilosis (A, B, C, D). The patient began treatment with regular intake of calcium; 1000 milligrams per day, adequate intake of vitamin D; 800 milligrams per day, and 50 milligrams of intravenous methylprednisolone, with mild to moderate level of physiotherapy rehabilitation program. It is a rare disease of the bones, affecting 1 in 50,000, equally in both sexes, autosominal dominant, with all patients having LEMD3 gene mutation. It is usually an incidental finding, not associated with symptoms, but pain, joint stiffness, and joint effusion seen in 20 percent of patients.