cherubism

Common Signs and Symptoms of Cherubism

Cherubism is a rare genetic disorder characterized by abnormal bone tissue in the jaw, leading to distinctive facial features. The signs and symptoms of cherubism typically appear between the ages of 2 to 7 and can vary widely in severity.

• Wide Jaw: One of the most noticeable symptoms of cherubism is a wide jaw, which can be caused by the abnormal growth of bone tissue in the lower jaw (mandible) and upper jaw (maxilla).
• Swollen Cheeks: The cheeks may become swollen due to the accumulation of fibrous tissue, giving the face a rounded appearance.
• Missing Teeth: In some cases, teeth may be missing or affected by the abnormal growth of bone tissue.
• Upward Turning Eyes: Affected individuals may have upward-turning eyes, which can give them a distinctive facial appearance.
• Roundness in the Cheek Region: The cheek region may become rounded due to the accumulation of fibrous tissue.

Other Possible Symptoms

In rare cases, cherubism can occur as part of another genetic disorder. Some possible symptoms associated with these conditions include:

• Abnormal jaw growth
• Short stature
• Intellectual disability
• Overgrowth of other body parts

Age-Related Development

The signs and symptoms of cherubism typically develop between the ages of 2 to 7, but can persist into early adulthood. In most cases, the condition resolves on its own during this time period.

References:

[1] Signs and symptoms don’t appear right after birth. Instead, they usually develop between the ages of 2 to 7. The severity of the condition can vary widely. ... (Search Result 1)

[3] Cherubism is a disorder characterized by progressive, painless, bilateral swelling of the jaw. Diagnosis is based on a combination of clinical signs, family history, radiographic findings (panoramic x-rays, CT scan), biopsy, and genetic testing. (Search Result 3)

[6] Cherubism is a disorder characterized by abnormal bone tissue in the jaw. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) ... Most people with cherubism have few, if any, signs and symptoms affecting other parts of the body. Rarely, however, this condition occurs as part of another genetic disorder. (Search Result 6)

[13] What are the main symptoms of Cherubism? The main symptom of the syndrome is due to abnormal bone tissue in the jaw. Beginning in childhood the bone in the upper and lower jaws of affected individuals is replaced by painless, cyst like growths. (Search Result 13)

Diagnostic Tests for Cherubism

Cherubism, a rare genetic disorder, can be diagnosed through various diagnostic tests. Here are the key tests used to diagnose cherubism:

• Physical Exam: A physical exam is conducted by healthcare providers to look for clinical signs of cherubism, such as an unusually wide jaw, missing teeth or teeth issues [1].
• Imaging Tests: Imaging tests like X-rays and CT scans (computed tomography scans) are ordered to reveal multilocular radiolucent areas within the jawbones [13]. These lesions are often symmetrical and can expand, causing further deformation of the facial structure.
• Genetic Testing: Genetic testing is used to confirm the diagnosis of cherubism. This test looks for mutations in the SH3BP2 gene [10].
• Radiographic Examination: Radiographic examination is essential in cases where there's a suspicion of cherubism. It helps define the diagnosis by examining the location and distribution of lesions [14].
• Histopathological Examination: Histopathological examination is complementary to radiographic examination and can provide further confirmation of the diagnosis.

These diagnostic tests are crucial in confirming the diagnosis of cherubism, which is essential for proper treatment and management of the condition.

References:

[1] Context 1 [10] Context 10 [13] Context 13 [14] Context 14

Overview of Drug Treatments for Cherubism

Cherubism, a rare genetic disorder, can be managed through various drug treatments. While most children with cherubism do not require treatment, some may benefit from pharmacological interventions to manage the condition.

Types of Drugs Used in Cherubism Management

Several types of drugs have been used to treat cherubism, including:

• Calcitonin: This hormone has been shown to inhibit bone resorption and has been successfully used in treating cherubism. [7][9]
• Immunomodulators: These medications can help regulate the immune system's response to the condition.
• Anti-resorptive agents: These drugs can help slow down or stop the growth of abnormal tissue.

Specific Drug Treatments

Some specific drug treatments have been reported in studies, including:

• Calcitonin: This hormone has been used to treat cherubism, with some cases showing regression of lesions after treatment. [6]
• Imatinib: A tyrosine kinase inhibitor that has been used to treat cherubism, resulting in marked reduction in tumor size. [5]
• Bisphosphonates: These medications can help slow down or stop the growth of abnormal tissue.
• Corticosteroids: These medications can help reduce inflammation and swelling associated with cherubism.

Limitations and Variability

It's essential to note that there is still no agreed-upon recommendation for drug management of cherubism, likely due to the low number of reported cases and variability in treatment duration, protocol, and heterogeneity. [3][10]

References

• [1] This review identified three types of drugs used for cherubism management: calcitonin, immunomodulators, and anti-resorptive agents.
• [5] A report presents 3 patients with cherubism who exhibited marked reduction in tumor size with imatinib, a tyrosine kinase inhibitor.
• [6] The current case supports the intranasal calcitonin as a reliable alternative treatment for milder forms of Cherubism.
• [7] Calcitonin inhibits bone resorption through direct inhibition of the osteoclast-like multinucleated giant cells and has been successfully used in treating cherubism.
• [9] Calcitonin inhibits bone resorption through direct inhibition of the osteoclast-like multinucleated giant cells, and has been successfully used in treating cherubism.

Differential Diagnosis of Cherubism

Cherubism, a rare childhood fibro-osseous inherited condition, requires accurate differential diagnosis to rule out other bone diseases affecting the maxillomandibular complex. The following conditions are part of the differential diagnosis for cherubism:

• Fibrous dysplasia of the jaws: A condition characterized by replacement of normal bone with fibrous tissue, often unilateral and appearing in patients between 20-40 years old [4][6].
• Central giant cell granuloma of bone: A lesion that mainly affects the anterior mandible, typically presenting in younger individuals [4][7].
• Brown tumor of hyperparathyroidism: A condition associated with hyperparathyroidism, characterized by brownish lesions on radiographs [5][9].
• True giant cell tumor: A rare, benign tumor that can affect any bone but is most commonly found in the long bones and pelvis [6][11].
• Infantile hyperostosis: A condition characterized by excessive growth of bone, often presenting with a "soap bubble" appearance on radiographs [11].

Key Features to Distinguish Cherubism from Other Conditions

To accurately diagnose cherubism, clinicians should be aware of the following key features:

• Bilateral and symmetric involvement of the mandible and maxilla
• Age of onset (childhood)
• Family history
• Clinical examination findings
• Radiographic characteristics (e.g., "soap bubble" appearance)

References

[1] Context result 2 [3] Context result 4 [5] Context result 9 [6] Context result 10 [7] Context result 11