Cherubism: Causes, Symptoms, Diagnosis and Treatment

Cherubism is a rare genetic disorder characterized by the abnormal growth of fibrous tissue in the jawbones, leading to a distinctive facial appearance. Named for the cherubic features it imparts to affected individuals, cherubism primarily manifests in children and can be a source of both physical and psychological discomfort. This article delves into the causes, symptoms, diagnostic methods, and treatment options for cherubism, providing a comprehensive understanding of the condition.

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What is Cherubism?

Cherubism is an autosomal dominant disorder, meaning it can be passed from an affected parent to their child with a 50% chance of inheritance. The condition is primarily identified by the replacement of bone with fibrous tissue in the lower part of the face, particularly the mandible and maxilla. This results in swollen cheeks and an upward gaze due to the displacement of the orbital floor, contributing to the 'cherubic' appearance.

Causes of Cherubism

Genetic Factors

The primary cause of cherubism is mutations in the SH3BP2 gene, which plays a crucial role in regulating bone remodeling and immune responses. Mutations in this gene lead to overactive osteoclasts, the cells responsible for bone resorption, resulting in the characteristic bone lesions of cherubism.

Inheritance Patterns

Cherubism follows an autosomal dominant inheritance pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. However, the severity and specific manifestations can vary widely, even among members of the same family.

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Symptoms of Cherubism

Facial Features

The most apparent symptoms of cherubism are the facial abnormalities, which typically become noticeable between the ages of 2 and 7. These include:

Radiological Features

Radiographic imaging is crucial for diagnosing cherubism. X-rays and CT scans reveal multilocular radiolucent areas (cyst-like spaces) within the jawbones. These lesions are often symmetrical and can expand, causing further deformation of the facial structure.

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Diagnosis of Cherubism

Clinical Examination

Diagnosis often begins with a thorough clinical examination, where the characteristic facial features and family history are assessed.

Radiology

Radiographic imaging plays a pivotal role in confirming the diagnosis. Cherubism radiology typically shows:

Genetic Testing

Genetic testing can confirm mutations in the SH3BP2 gene, providing a definitive diagnosis. This is particularly useful in differentiating cherubism from other similar conditions such as fibrous dysplasia or giant cell granuloma.

Treatment Options for Cherubism

Monitoring and Conservative Management

In mild cases, where the aesthetic and functional impact is minimal, a conservative approach involving regular monitoring may be sufficient. Many children experience spontaneous regression of the lesions after puberty, reducing the need for aggressive treatments.

Medical Treatments

While no specific medications are approved for cherubism, certain drugs aimed at reducing bone resorption and inflammation have shown promise in managing symptoms. These include:

Surgical Interventions

Surgery may be considered in severe cases where the deformity causes significant functional or psychological distress. Cherubism surgery options include:

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Psychological and Social Implications

Cherubism can have profound psychological and social impacts, particularly during formative years. Children with cherubism may experience bullying or social isolation due to their appearance. Therefore, it is crucial to provide comprehensive support, including: