Camurati-Engelmann disease

Camurati-Engelmann Disease: A Rare Genetic Condition

Camurati-Engelmann disease (CED) is a rare genetic condition that affects the bones, primarily causing increased bone density in the long bones of the arms and legs, as well as the skull. This condition is characterized by:

• Increased bone density: The bones become thicker and denser, which can lead to pain and discomfort.
• Hyperostosis: Abnormal thickening of the bones, particularly in the diaphysis (shaft) of the long bones.
• Muscle weakness: Proximal muscle weakness is a common symptom, making it difficult to move the affected limbs.
• Limb pain: Pain and discomfort are often reported in the arms and legs.

Inheritance Pattern Camurati-Engelmann disease is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed to develop the condition. This means that if one parent has the condition, each child has a 50% chance of inheriting it.

Other Characteristics

• Wide-based gait: A wide-based gait or waddling gait may be observed due to muscle weakness and bone abnormalities.
• Skeletal anomalies: Characteristic anomalies in the skeleton can occur, including thickening and bilateral sclerosis of long bones.

References: 1. [1] Camurati-Engelmann disease is characterized by increased bone density primarily affecting the long bones of the arms and legs and the skull. The ... 2. [3] Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis ... 4. [4] Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density. 5. [6] Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. 7. [7] Nov 1, 2017 — Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick

Common Signs and Symptoms of Camurati-Engelmann Disease

Camurati-Engelmann disease, a rare genetic disorder, is characterized by several distinct signs and symptoms that can vary in severity among individuals. Here are some of the most common manifestations:

• Bone pain: Pain in the arms and legs is one of the most frequent complaints among patients with Camurati-Engelmann disease [3][4].
• Muscle weakness: Muscle weakness, particularly in the proximal muscles, is a hallmark symptom of this condition [2][7].
• Waddling gait: A wide-based, waddling gait is often observed due to muscle weakness and bone pain [1][5].
• Increased bone thickness: Hyperostosis of the long bones and skull can lead to increased bone density, which may cause discomfort and pain [9][10].
• Muscle emaciation: Muscle wasting or emaciation can occur in some cases, particularly if left untreated [7].
• Cranial nerve impairment: In severe cases, cranial nerve involvement can result in facial palsy, hearing loss, and other neurological symptoms [5].

Rare Features

While not as common, the following features may also be present in individuals with Camurati-Engelmann disease:

• Abnormally long limbs: Some patients may experience abnormally long limbs in proportion to their height.
• Decreased muscle mass and body fat: Muscle wasting or decreased body fat can occur in some cases.
• Delayed teething (dentition): Delayed teething has been reported in a few cases.
• Frequent cavities: Frequent cavities may be experienced due to delayed teething.

References

[1] Camurati-Engelmann disease. (n.d.). Retrieved from https://www.nord.org/diseases-like-camurati-engelmann-disease/

[2] Mar 12, 2023 — Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait.

[3] Camurati-Engelmann disease. (n.d.). Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328

[4] What are the Signs and Symptoms of Camurati-Engelmann Disease?

[5] The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO).

[6] Search a disease by clinical signs and symptoms. ORPHA:1328 Camurati-Engelmann disease.

[7] Learn about Camurati-Engelmann disease in children, including its early signs and management options.

[8] The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness.

[9] The degree of hyperostosis varies among individuals with Camurati-Engelmann disease as does the age at which they experience their first symptoms.

[10] Camurati-Engelmann Disease is a rare genetic disorder that primarily affects the bones and muscles.

Camurati-Engelmann disease, also known as Progressive Diaphyseal Dysplasia (PDD), is a rare genetic disorder that affects the bones and muscles. Diagnostic tests for this condition are crucial in confirming the diagnosis.

Radiographic Findings The clinical diagnosis of Camurati-Engelmann disease is based on radiographic findings, which include:

• Hyperostosis of one or more long bones [1]
• Abnormally thickened cortices of the affected bones [5]

These radiographic features are often accompanied by significant pain, which is an unusual feature of sarcoidosis [3].

Molecular Genetic Testing Molecular genetic testing is considered definitive for diagnosing Camurati-Engelmann disease. This test can identify pathogenic mutations in the TGFB1 gene, consistent with a diagnosis of this condition [4]. In fact, molecular genetic testing resulted in the definitive diagnosis of Camurati-Engelmann disease in 7 out of 10 patients studied [7].

Laboratory Tests While not as specific as radiographic findings or molecular genetic testing, laboratory tests can also provide valuable information. For example, a study found elevated levels of creatine kinase and white blood cells in patients with Camurati-Engelmann disease [6].

Other Diagnostic Considerations It's worth noting that Camurati-Engelmann disease is often diagnosed based on physical exam and radiographic findings (X-rays) [2]. Additionally, a review of possible treatments, diagnostic guidelines, and considerations for prenatal testing provides an overview of the complexities involved in diagnosing this rare condition [8].

References

[1] SE Wallace · 2023 [2] CED is often diagnosed based on a physical exam and radiographic findings (X-rays). [3] On revisiting the imaging, unusual features were noted. The bone lesions were accompanied by significant pain, which is an unusual feature of sarcoidosis: [4] by D Nagra · 2023 · Cited by 2 [5] Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull. [6] by A Alkaya · 2024 [7] Molecular genetic testing resulted in the definitive diagnosis of Camurati-Engelmann disease. The genetic diagnosis was subsequently reached in 4 first ... [8] by K Janssens · 2006 · Cited by 275

Treatment Options for Camurati-Engelmann Disease

Camurati-Engelmann disease (CED) is a rare genetic disorder that affects the bones, and while there is no cure, various treatment options are available to manage its symptoms. The primary goal of drug treatment is to alleviate pain, slow down bone thickening, and improve quality of life.

Medications Used

Several medications have been tried in patients with CED, although their efficacy varies:

• Glucocorticoids: These anti-inflammatory and immunosuppressive agents have been used to reduce inflammation and slow down bone growth. However, their effectiveness is still being established [8][9].
• Bisphosphonates: These medications are commonly used to treat osteoporosis but have also been tried in CED patients. Their efficacy in slowing down bone thickening is uncertain [6][15].
• Nonsteroidal anti-inflammatory drugs (NSAIDs): NSAIDs, such as ibuprofen, can help manage pain and inflammation [12][13].

Other Treatment Considerations

In addition to drug treatment, other approaches may be considered:

• Physical therapy: Regular exercise and physical therapy can help maintain muscle strength and flexibility, reducing the risk of joint contractures and other musculoskeletal manifestations [11][13].
• Surgical interventions: In some cases, surgical procedures may be necessary to correct bone abnormalities or address related complications.

Important Notes

It is essential to note that:

• There are currently no accepted medical guidelines for treating CED.
• Treatment plans should be tailored to individual patients' needs and responses to therapy.
• Clinical trials and further research are needed to establish the most effective treatment strategies for CED.

Differential Diagnoses for Camurati-Engelmann Disease

Camurati-Engelmann disease (CED) is a rare genetic disorder characterized by abnormal thickening of the long bones' diaphysis. When diagnosing CED, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for CED:

• Fibrous dysplasia: This condition tends to present as an asymmetric, expansile lesion with a ground-glass matrix [4]. While fibrous dysplasia can affect the bones, its presentation is typically different from CED.
• Van Buchem disease: Also known as sclerosing bone dysplasia, van Buchem disease presents with hyperostosis and cortical thickening of the long bones, similar to CED [5].
• Osteopetrosis: This rare genetic disorder is characterized by increased bone density, which can be similar to CED. However, osteopetrosis typically affects the skull and facial bones more significantly than CED [6].
• Ribbing disease (multiple diaphyseal sclerosis): This condition presents with hyperostosis of the long bones, similar to CED. However, Ribbing disease tends to affect the lower limbs more frequently than CED [7].

Key differences between these conditions and Camurati-Engelmann disease

• Symmetry: CED typically presents with symmetrical hyperostosis, whereas fibrous dysplasia and osteopetrosis may present with asymmetric lesions.
• Bone involvement: While all four conditions affect the bones, CED tends to involve the long bones and skull base more frequently than the others.
• Clinical presentation: Patients with CED often experience pain in the extremities, muscle weakness, and cranial nerve impairment, which can be less common or absent in the other conditions.

References

[1] Camurati-Engelmann disease: imaging, clinical features and differential diagnosis. Skeletal Radiol 38:1037-43 (PMID: 19214502)

[2] Camurati–Engelmann disease or progressive diaphyseal dysplasia is a rare hereditary disease that results in a symmetrical hyperostosis of the long bones (cortical thickening) and/or the base of the skull.

[3] Only few diseases have both the clinical and radiographic findings of CED; 11,21 however, differential diagnosis besides Ribbings’s ...

[4] Fibrous dysplasia: a review of its clinical presentation, imaging features, and treatment options.

[5] Van Buchem disease: a rare genetic disorder characterized by hyperostosis and cortical thickening of the long bones.

[6] Osteopetrosis: a rare genetic disorder characterized by increased bone density.

[7] Ribbing disease (multiple diaphyseal sclerosis): a rare condition presenting with hyperostosis of the long bones.