Hyperostosis corticalis generalisata

Hyperostosis corticalis generalisata, also known as Van Buchem disease, is a rare inherited skeletal disorder characterized by progressive thickening (hyperostosis) of the cortical bone throughout the body. The condition primarily affects the skull, mandible (jawbone), clavicles, ribs, and long bones. The excessive bone growth leads to a characteristic set of clinical features including enlargement and widening of the jaw, facial distortion, and cranial nerve compression. Compression of cranial nerves within narrowed bony foramina can result in facial nerve palsy (Bell's palsy), hearing loss, and visual impairment. Increased intracranial pressure may also occur due to thickening of the skull vault. The condition typically becomes apparent during childhood or puberty and progresses throughout life. The disease is caused by a deletion in the regulatory region downstream of the SOST gene on chromosome 17q21, which leads to reduced production of sclerostin, a protein that normally inhibits bone formation. Without adequate sclerostin, osteoblastic activity is excessive, resulting in continuous bone deposition. Van Buchem disease is inherited in an autosomal recessive manner and is particularly prevalent in a Dutch population from a village in the province of Groningen in the Netherlands, where a founder effect has been identified. There is currently no cure for hyperostosis corticalis generalisata. Treatment is primarily symptomatic and supportive. Surgical decompression of cranial nerves may be necessary to address facial palsy, hearing loss, or optic nerve compression. Regular monitoring by a multidisciplinary team including orthopedic specialists, neurologists, ophthalmologists, and audiologists is recommended. Interestingly, research into the SOST gene and sclerostin pathway has contributed significantly to the development of anti-sclerostin antibody therapies (such as romosozumab) for osteoporosis, though these therapies are not used to treat Van Buchem disease itself.

Common questions about Hyperostosis corticalis generalisata