Van Buchem disease: A rare sclerosing dysplasia

Abstract

The other name for Van Buchem disease is hyperostosis corticalis generalisata. It is an uncommon genetic bone condition characterized by aberrant metaphyseal expansion of the tubular bones and hyperostosis and sclerosis of the craniofacial bones. It is brought on by a SOST gene defect that results in increased osteoblastic activity. A 20-year-old male patient came to us with gradual hearing loss, progressive facial deformity, and breathing difficulties. Radiological examination with computed tomography and X-ray reveals sclerosis of the craniofacial bones and enlargement of the metaphyseal region of long tubular bones. Based on radiological characteristics, we suspected it to be a very rare case of sclerosing dysplasia called Van Buchem disease.