Camurati-Engelmann disease

Last revised by Dr Yuranga Weerakkody on 15 Oct 2020

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 5.

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 6
  • the epiphyses are spared
  • affected regions show high uptake with Tc99-MDP bone scintigraphy representing osteoblastic activity 4

It is named after 2,3:

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

General imaging differential considerations include:

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Cases and figures

  • Case 1: tibia and fibula
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  • Case 1: hand
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  • Case 1: chest
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  • Case 1: skull CT
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  • Case 2: pelvis
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