familial expansile osteolysis

(redirected from McCabe disease)

familial expansile osteolysis

A rare autosomal dominant bone disorder (OMIM:174810) characterised by foci of increased bone remodelling, especially in the long bones beginning in early adulthood, often associated with early-onset deafness and loss of dentition.

Molecular pathology
Defects in TNFRSF11A, which encodes a member of the TNF receptor family essential for RANKL-mediated osteoclastogenesis, cause familial expansile osteolysis.