The syndrome is inherited as an autosomal-dominant variant with incomplete penetrance. The differential diagnosis of osteopoikilosis includes blastic metastases, tuberous sclerosis and mastocytosis. Screen for diabetes. Bone densities often are present in fingers, carpal and metacarpal bones, lumbosacral spine, and tibial and radial bones. They are sclerotic circular or ovoid lesions symmetrically distributed in a periarticular location and may be 1-16 mm in diameter.
Lesions can increase or decrease in size and number in serial radiographs or even disappear.
The bone densities are caused by condensations of the spongiosa. Other sclerosing dysplasias including, osteopathia striata, melorheostosis, and focal sclerosis can be seen. Lesions do not have increased bone radiotracer uptake. T1 weighted MRI reveals multiple well circumscribed low signal foci usually in a symmetric distribution. The differential diagnosis includes blastic mets, tuberous sclerosis and mastocytosis.