Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis.

[erdheim-chester disease]

Sclerosing bone dysplasias are skeletal abnormalities of varying severity with a wide range of radiologic , clinical , and genetic features . Hereditary sclerosing bone dysplasias result from some disturbance in the pathways involved in osteoblast or osteoclast regulation , leading to abnormal accumulation of bone . Several genes have been discovered that , when disrupted , result in specific types of hereditary sclerosing bone dysplasia (osteopetrosis , pyknodysostosis , osteopoikilosis , osteopathia striata , progressive diaphyseal dysplasia , hereditary multiple diaphyseal sclerosis , hyperostosis corticalis generalisata ), many of which exhibit similar pathologic mechanisms involving endochondral or intramembranous ossification and some of which share similar underlying genetic defects . Nonhereditary dysplasias include intramedullary osteosclerosis , melorheostosis , and overlap syndromes , whereas acquired syndromes with increased bone density , which may simulate sclerosing bone dysplasias , include osteoblastic metastases , Paget disease of bone , Erdheim-Chester disease , myelofibrosis , and sickle cell disease . Knowledge of the radiologic appearances , distribution , and associated clinical findings of hereditary and nonhereditary sclerosing bone dysplasias and acquired syndromes with increased bone density is crucial for accurate diagnosis .

Diseases
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