familial expansile osteolysis

A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_b

A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33.

Signs and symptoms

• Conductive hearing impairment
• Osteolysis
• Bone pain
• Premature loss of teeth
• Elevated circulating alkaline phosphatase concentration
• Fragile teeth
• Bowing of the long bones
• Hydroxyprolinuria
• Pathologic fracture
• Thin bony cortex

Also known as: FEO; McCabe disease; hereditary expansile polyostotic osteolytic dysplasia