Osteopoikilosis

Osteopoikilosis is a condition of unknown origin which is transmitted in an autosomal dominant manner with high penetrance (meaning patients with the gene usually have the condition). Some cases are spontaneous and there is no family history. Males and females are equally affected.

Patients are asymptomatic, and laboratory exams are normal.  Osteosarcoma has been reported to occur in affected bone. associated conditions include: dermatofibrosis lenticularis disseminata, scleroderma, syndactyly, dwarfism, endocrine abnormalities, melorrheostosis, and cleft palate. Most patients have no other findings.

Radiographically, lesions are seen in the metaphyseal and epiphyseal areas of affected bones. The multiple, sclerotic, roundish lesions vary in size from a few millimeters to several centimeters. They are scattered within the cancellous bone and concentrated near the joint surfaces. 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. Lesions may increase or decrease in size as well as number.

Bone scan activity is normal.

Pathologically, the lesions resemble a bone island.

pathology images 1 2 3

Differential diagnosis includes: Sclerotic metastatic cancer, mastocytosis, tuberous sclerosis.

Sources:

Bullough and Invigorita, Atlas of Orthopaedic Pathology, 1^st Ed. University Park Press
Greenfield and Arrington, Imaging of Bone tumors, Lippencott, 1995

Resnick, D., Bone and Joint Imaging, W.B. Saunders, Philadelphia, PA, 1989,pp. 1234-1239.

Enneking, William (images where noted)

Octobe 31, 2001 HD

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(some images are courtesy of Wm. Enneking's excellent site)