Camurati-Engelmann disease

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di·a·phys·i·al dys·pla·si·a

progressive, symmetrical fusiform enlargement of the shafts of long bones characterized by the formation of excessive new periosteal and endosteal bone and irregular conversion of this cortical bone into cancellous bone; anemia does not occur as a rule, as in osteopetrosis.

Camurati-Engelmann disease

Etymology: Mario Camurati, Italian physician, 1896-1948; Guido Engelmann, twentieth-century Czechoslovakian surgeon
an inherited disorder of bone development marked by an onset of symptoms of muscular pain, weakness, and wasting, mainly in the legs, during childhood. The symptoms vary individually from mild to disabling. Radiographic examination usually reveals thickening of the periosteal and medullary surfaces of the diaphyseal edges of the long bones. In some cases compression of nerve tissue may occur. The symptoms usually subside during early adulthood. Also called diaphyseal dysplasia.

Camurati-Engelmann disease

A rare autosomal dominant disorder (OMIM:131300) characterised by hyperostosis and sclerosis of the diaphyses of long bones, which usually presents in early childhood with pain, muscular weakness and waddling gait, variably accompanied by exophthalmos, facial paralysis, hearing loss and loss of vision.
 
Molecular pathology
Caued by defects of TGFB1, which encodes a transforming growth factor beta-type cytokine that up- and downregulates proliferation, differentiation, adhesion, migration, apoptosis and other functions.
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