Van Buchem Disease and Sclerosteosis
Autosomal recessive endosteal hyperostosis; Hyperostosis corticalis generalisata; Truswell-Hansen disease
Definition and Characteristics
Van Buchem disease and sclerosteosis are classified among the craniotubular hyperostosis. Radiographic examination shows a generalized, progressive overgrowth and sclerosis of the skeleton. Typical features are an impressive thickening and sclerosis of the mandible and both the roof and base of the skull, often resulting in facial distortion. Facial nerve palsy, hearing disturbances, visual loss and neurological pain, caused by encroachment of the cranial foramina by hyperostotic bone, are frequently observed clinical complications. The clinical phenotype of sclerosteosis is often more severe and variable expression of congenital hand malformations and raised intracranial pressure, sometimes leading to sudden death, is observed .
Both conditions are inherited in an autosomal recessive fashion with an equal sex distribution, and...