Sclerosteosis is a rare autosomal recessive bone dysplasia resulting in sclerosis and hyperostosis, particularly of the skull, mandible and tubular bones. It is closely related to Van Buchem disease 1.
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Epidemiology
Sclerosteosis is a very rare disease, with only around 100 cases reported. There is an equal sex distribution 2.
Pathology
As with Van Buchem disease, a genetic disorder of the osteophyte leads to disrupted production of an anti-anabolic protein called sclerostin 2. This results in poor bony remodelling and hyperostosis.
Radiographic features
Generalised thickening and sclerosis of both skull tables, the mandible and the long bones. Syndactyly and increased height are seen in sclerosteosis, which helps to distinguish it from Van Buchem disease 2.
Differential diagnosis
As with Van Buchem disease, the differential includes other sclerosing bone dysplasias:
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