A 26-year-old male patient presented at the emergency department after trauma to the right wrist, left shoulder and the head after an assault. He also mentioned long-standing limb pain, especially around the knees and ankles. Neurological examination was normal and there were no laboratory abnormalities.
There are no signs of recent trauma.
Plain radiographs show thickening of the diaphyses of the long bones (Figs. 1-4), including the distal femur, the tibia and the fibula (Figs. 3 and 4). These findings are bilateral and symmetric, with epiphyseal sparing (Figs. 3 and 4). Similar abnormalities are observed in the left proximal humerus (Fig. 1) and right distal radius and ulna (Fig. 2). There is minor cortical sclerosis in some metacarpal and metatarsal bones. The carpal bones, tarsal bones and phalanges of the hands and feet are normal (Figs. 2 and 4).
Brain CT shows no signs of acute trauma but reveals sclerosis and thickening of the cranial bones (Fig. 5). There is also narrowing of the optic canals (Fig. 5a).
Clinical presentation and radiographic abnormalities may correspond to Camurati-Engelmann disease.
The patient had a confirmed diagnosis of Camurati-Engelmann disease and a sister with the same condition.
Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare form of sclerosing bone dysplasia, [1, 2] belonging to the group of disturbance in intramembranous bone formation. [3] CED is an autosomal dominant disease with variable penetrance, [1, 2] in most cases related to mutations in the TGFB1 gene. [3, 4] About one person per million is affected. [5]
Phenotypical expression is highly variable and the age of onset is unpredictable. [4, 6] Although usually detected during childhood, [7] CED may have an indolent or quiescent course, [6] with cases of onset up to the sixth decade. [3] Common symptoms are limb pain, waddling gait, easy fatiguability and muscular weakness. [3, 4] If the skull base is involved, there may be symptoms of cranial nerve compression. [3, 5] Systemic manifestations, such as hepatosplenomegaly and bone marrow dysfunction are uncommon. [3]
Laboratory abnormalities are also uncommon. [3]
Radiological signs have a penetrance of 94%, [4] and precede clinical symptoms. [5] Bilateral and symmetric cortical thickening of the diaphyses of long bones is very characteristic. [1, 2] Both the periosteal and the endosteal side are affected, with concomitant broadening of the diaphyses and narrowing of the medullary cavity, suggesting that both osteoclastic and osteoblastic activities are disturbed. [4, 5] There may even be partial obliteration of the medullary cavity. [3] Metaphyses and epiphyses are generally spared because they are formed by endochondral ossification. [7]
CED is a progressive disease, becoming more prominent with age. [5]
It affects the long bones of the lower limbs more frequently than the upper limbs. [2, 3, 5] In some patients there is sclerosis of the skull, mandible, thoracic cage, vertebrae, pelvis, metacarpals and metatarsals. [3, 4, 5] Carpal and tarsal bones, as well as phalanges are usually spared. [3]
Increased osteoblastic activity is detected on scintigraphy before clinical or radiographic evidence of the disease. [3, 4]
Typical clinical presentation of CED is very useful in the differential diagnosis with other sclerosing bone dyspasia. [1] However, its rarity and variable course may complicate the diagnosis, requiring molecular analysis in some cases. [4]
Preferred treatment consists of corticosteroids, using the advantage of their effect of decreasing bone density. [2, 4] They improve both clinical and radiological abnormalities but have long-term side effects. [4, 8] NSAIDs only provide analgesia. [4]
Surgery may be needed for neurological decompression or to reduce medullary stenosis. [4, 8]
Camurati-Engelmann disease
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Based on the provided X-ray and CT images, the following main features are observed:
Considering the patient is a 26-year-old male with long-term limb pain (especially around the knee and ankle joints), radiological findings of “bilateral symmetrical cortical thickening, narrowed medullary cavity,” and no significant laboratory abnormalities, the following differential diagnoses are proposed:
Combining the patient’s age, long-term lower limb pain, the classic imaging presentation of symmetrical cortical thickening and narrowing of the medullary cavity, along with generally normal clinical and laboratory findings, the most fitting diagnosis is:
Camurati-Engelmann Disease (CED, Progressive Diaphyseal Dysplasia).
For more precise confirmation, genetic testing (TGFB1 gene mutation) may be performed to support the diagnosis.
In the absence of acute fractures or severe neurological symptoms, patients should be encouraged to engage in appropriate exercise programs, while taking into account the potential pain or muscle weakness caused by bone thickening. A gradual FITT-VP approach is recommended:
If trauma to the wrist, shoulder, or head has resulted in soft tissue or joint injuries, recovery should be assessed to ensure a safe exercise regimen. Appropriate protective gear or physical therapy may be used as needed.
Disclaimer: This report is intended for reference only and cannot replace in-person diagnosis or professional medical advice. If you have any questions or if symptoms worsen, please seek medical attention promptly.
Camurati-Engelmann disease
