Camurati-Engelmann disease
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Camurati-Engelmann disease (CED), also known asprogressive diaphyseal dysplasia (PDD),is a rare autosomal dominantsclerosing bony 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 hepatosplenomegaly5.
Pathology
In a vast majority of cases it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity 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 activity4
Treatment and prognosis
Complications
- progressive stenosis of the optic canals and compressive optic neuropathy can give papilloedema 7
History and etymology
Named after2, 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
presentspresents in middle age1
-<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<span style="line-height:13.8666658401489px"> overactivity.</span></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 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>
-</ul><h5>Bone scintigraphy</h5><ul><li>affected regions show high uptake with Tc<sup>99</sup>-MDP bone scintigraphy representing osteoblastic activity <sup>4</sup>- +</ul><h5>Bone scintigraphy</h5><ul><li>affected regions show high uptake with Tc<sup>99</sup>-MDP bone scintigraphy representing osteoblastic activity <sup>4</sup>
-</li></ul><h4>History and etymology</h4><p>Named after <sup>2, 3</sup>:</p><ul>- +</li></ul><h4>History and etymology</h4><p>Named after <sup>2, 3</sup>:</p><ul>
-</ul><h4>Differential diagnosis</h4><p>General imaging differential considerations include</p><ul>- +</ul><h4>Differential diagnosis</h4><p>General imaging differential considerations include:</p><ul>
- +<li><a href="/articles/van-buchem-disease">van Buchem disease</a></li>
- +<li><a href="/articles/osteopetrosis">osteopetrosis</a></li>
-<a href="/articles/van-buchem-disease">van Buchem disease</a>:</li>-<li>-<a href="/articles/osteopetrosis">osteopetrosis</a>:</li>-<li>-<a href="/articles/ribbing-disease">Ribbing disease </a>(<a href="/articles/multiple-diaphyseal-sclerosis">multiple diaphyseal sclerosis</a>): can appear similar but presents in middle age <sup>1 </sup>- +<a href="/articles/ribbing-disease">Ribbing disease </a>(<a href="/articles/multiple-diaphyseal-sclerosis">multiple diaphyseal sclerosis</a>): can appear similar but presents in middle age <sup>1 </sup>
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