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Osteopoikilosis

Osteopoikilosis is a sclerosing bony dysplasia with multiple enostoses.

It is a rare inherited benign condition incidentally found on skeletal x rays. Its importance is predominantly in correct diagnosis so that it is not mistaken for pathology.

Epidemiology

The bone islands of osteopoikilosis develop during childhood and do not regress and therefore are seen in all age groups. There is no gender predilection.

Osteopoikilosis is inherited as an autosomal dominant disorder 1

Clinical presentation

The condition is asymptomatic and does not degenerate into malignancy. Bone strength is normal. 

Pathology

Histologically the bone islands found in osteopoikilosis and in sporadic enostoses are merely patches of dense cortical like bone complete with haversian canals located within the spongiosa, often just deep to the cortex 7

A closely related entity is Buschke-Ollendorff syndrome.

Osteopoikilosis is often found concurrently with osteopathia striata, and melorheostosis, and it is thought by some that they represent a spectrum of the same condition. Indeed recent genetic evidence suggests that these conditions are related by a loss of function mutation of the LEMD3 gene 2.

Other associations

Radiographic features

Plain film and CT

The bone islands of osteopoikilosis are typically clustered around joints and align themselves parallel to surrounding trabeculae (thus predominantly longitudinally in in the metaphyses) 8. Most lesions are found in the appendicular skeleton and pelvis. The axial skelton is largely spared. It is rare for the skull vault to be involved 6.

The lesions vary in size, usually a 5 - 10mm, but ranging from only 1 - 2mm up to 1 - 2cm. 

MRI

Appearances on MRI are the same as individual bone islands. Each lesion is small and dark on both T1 and T2 weighted images, as it is composed of mature dense bone 3.

Bone scintigraphy

Bone scan should not demonstrate any increase in uptake, useful if metastatic disease is considered in the differential.

Osteopoikilosis is one of the skeletal “Don’t touch” lesions.

Differential diagnosis

When seen throughout multiple bones with characteristic appearances, there is little differential. When only a few lesions are seen on an isolated film, the differential includes:


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