Camurati-Engelmann disease

Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare autosomal dominant sclerosing bone dysplasia. It begins in childhood and follows a progressive course.

Clinical presentation

Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly .

Pathology

In a vast majority of cases, it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity.

Distribution

Tends to be bilateral and symmetrical. Can affect any bone but has a greater predilection for the long bones (femur, tibia, fibula, humerus, ulna and radius). Other common sites include the skull and pelvis.

Radiographic features

Plain radiograph
  • there is fusiform bony enlargement with sclerosis in long bones
  • the epiphyses are spared
Nuclear medicine
  • affected regions show high uptake with Tc-MDP bone scintigraphy representing osteoblastic activity

Treatment and prognosis

Complications

History and etymology

It is named after :

  • M Camurati, Italian physician
  • G Engelmann, German physician

Differential diagnosis

General imaging differential considerations include: