Camurati-Engelmann disease
Updates to Article Attributes
Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia (PDD),is a rare autosomal dominant sclerosing bonybone 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 5.
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 film
- there is fusiform bony enlargement with sclerosis in long bones 6
- the epiphyses are spared
Bone scintigraphy
- affected regions show high uptake with Tc99-MDP bone scintigraphy representing osteoblastic activity 4
Treatment and prognosis
Complications
- progressive stenosis of the optic canals and compressive optic neuropathy can give papilloedema 7
History and etymology
Named after 2, 3:
- M Camurati, Italian physician
- G Engelmann, German physician
Differential diagnosis
General imaging differential considerations include:
- van Buchem disease
- osteopetrosis
- Ribbing disease (multiple diaphyseal sclerosis): can appear similar but presents in middle age 1
-<p><strong>Camurati-Engelmann disease (CED)</strong>, also known as <strong>progressive diaphyseal dysplasia (PDD)</strong>,<strong> </strong>is a rare autosomal dominant <a href="/articles/sclerosing-bone-dysplasias">sclerosing bony dysplasia</a>. It begins in childhood and follows a progressive course.</p><h4>Clinical presentation</h4><p>Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly <sup>5</sup>.</p><h4>Pathology</h4><p>In a vast majority of cases it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity.</p><h5>Distribution</h5><p>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.</p><h4>Radiographic features</h4><h5>Plain film</h5><ul>- +<p><strong>Camurati-Engelmann disease (CED)</strong>, also known as <strong>progressive diaphyseal dysplasia (PDD)</strong>,<strong> </strong>is a rare autosomal dominant <a href="/articles/sclerosing-bone-dysplasias">sclerosing bone dysplasia</a>. It begins in childhood and follows a progressive course.</p><h4>Clinical presentation</h4><p>Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly <sup>5</sup>.</p><h4>Pathology</h4><p>In a vast majority of cases, it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity.</p><h5>Distribution</h5><p>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.</p><h4>Radiographic features</h4><h5>Plain film</h5><ul>
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