Biopsy shows variable degree of marrow fibrosis, along with markedly irregular bone with mixed areas of lamellar and woven bone. The clinical course is slowly progressive. Severe symptoms may require treatment by sympathectomy or even amputation. A single case has been reported where a patient with meloreostosis developed a high-grade osteosarcoma in the involved portion of the femur. Osteopoikilosis is thought to be transmitted in an autosomal dominant manner.
Patients are asymptomatic, and laboratory exams are normal.
The multiple, sclerotic, roundish lesions vary in size from a few millimeters to several centimeters. The lesions cluster at the end of long bones, around the acetabulum of the pelvis, and around the glenoid of the scapula, and in the small bones and cuboid bones of the hands and feet. Other than the pelvis, the axial skeleton is rarely involved. Osteosarcoma has been reported to occur in affected bone. Other rare hereditary and non-hereditary bone disorders marked by sclerosis or longitudinal dense striations in affected bones have been described that may have radiological similarities to the disorders described above.