A Forty Five Years Female Patient with Sclerosteosis
Keywords:Sclerosteosis, van Buchem disease, Hyperosteosis
AbstractSclerosteosis is a rare autosomal recessive disorder, characterized by progressive, generalized bony overgrowth of the
calvarium and mandible with cranial nerve entrapment and raised intracranial pressure, and abnormalities of the
digits. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic
nerves can occur. It is clinically and radiologically very similar to van Buchem disease, both of which shows generalized
hyperostosis and sclerosis leading to a markedly thickened and sclerotic skull, with mandible, ribs, clavicles and also
long bones. Van Buchem disease is differentiated from sclerosteosis by the absence of hand malformations and a
large stature. Here we describe a case of a 45 years-old-female presented with progressive enlargement of right side
of mandible, continuous pain in the right side of the face, right sided lower motor type of facial palsy, bilateral sensory
neural type of hearing loss along with polydactyly and syndactyly. The final diagnosis of sclerosteosis was made by
clinical features and radiological findings and exclusion of other causes of hyperosteosis. The particular interest of this
paper is to present a case of sclerosteosis, and to demonstrate the differences between that entity and other sclerosing
diseases of bone.
Keywords: Sclerosteosis; van Buchem disease; Hyperosteosis
J MEDICINE 2010; 11 : 207-211
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