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.
Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly .
In a vast majority of cases, it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity.
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.
- there is fusiform bony enlargement with sclerosis in long bones
- the epiphyses are spared
- affected regions show high uptake with Tc-MDP bone scintigraphy representing osteoblastic activity
Treatment and prognosis
History and etymology
It is named after :
- M Camurati, Italian physician
- G Engelmann, German physician
General imaging differential considerations include:
- van Buchem disease
- Ribbing disease (multiple diaphyseal sclerosis): can appear similar but presents in middle age