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osteosclerosis

Friday 12 December 2003

Definition: An abnormal increase in the density of bone tissue.

The condition occurs in a variety of disease states and is commonly associated with ischemia, chronic infection, and tumor formation.

It also may be caused by faulty bone resorption as a result of some abnormality involving osteoclasts.

Osteosclerosis is an increased bone density, visible on X-rays as an area of extreme whiteness. Localized osteosclerosis may be caused by a severe injury that compresses the bone, osteoarthritis, chronic osteomyelitis, or an osteoma. Osteosclerosis occurs throughout the body in the inherited bone disorder osteopetrosis.

Etiology

- proximal symphalangism (SYM1) and multiple-synostoses syndrome (SYNS1) are caused by mutations in NOG, the gene encoding noggin

- autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies are caused by mutations in NOG, the gene encoding noggin (12089654)

- lethal osteosclerotic bone dysplasia (Raine syndrome) (MIM.259775) (17924334)

  • germline mutations in FAM20C

See also

- osseous lesions
- osseous anomalies