Cherubism is a rare genetic disorder that primarily affects the bones of the lower face, especially the jawbones. It causes painless, symmetrical swelling of the cheeks due to abnormal bone growth and fibrous tissue development. The condition usually appears in early childhood and often stabilizes or improves after puberty. Treating cherubism involves a variety of approaches depending on the severity, symptoms, and progression of the disease.
The main treatment strategies for cherubism can be broadly divided into **observation, medical management, and surgical intervention**.
**Observation and Monitoring**
Because cherubism often stabilizes or even regresses after puberty, many mild cases do not require immediate treatment. Doctors typically recommend regular monitoring through clinical exams and imaging studies to track changes in bone lesions and facial appearance. This conservative approach avoids unnecessary procedures and allows intervention only if the condition worsens or causes functional or cosmetic problems.
**Medical Treatments**
There is no universally accepted medication specifically approved for cherubism, but some therapies aim to control the abnormal bone remodeling and reduce lesion growth.
– **Intralesional corticosteroid injections** have been used to reduce bone resorption and inflammation within the lesions. Corticosteroids promote the death of osteoclasts, the cells responsible for bone breakdown, which can help stabilize or shrink the lesions. This treatment is more effective for smaller, localized lesions and requires repeated injections over time. However, it may have systemic side effects and requires long-term follow-up.
– **Denosumab**, a monoclonal antibody that inhibits osteoclast activity, has shown promise in treating bone lesions similar to those seen in cherubism, such as giant cell tumors. By blocking the receptor activator of nuclear factor kappa-B ligand (RANKL), denosumab reduces bone destruction and may help control lesion progression. Its use in cherubism is still experimental and typically reserved for severe or aggressive cases due to potential side effects and the need for careful monitoring.
– Other medications like calcitonin or bisphosphonates, which also inhibit bone resorption, have been considered but lack strong evidence for routine use in cherubism.
**Surgical Treatments**
Surgery is generally reserved for cases where cherubism causes significant facial deformity, functional impairment (such as difficulty chewing or breathing), or if lesions continue to grow aggressively after puberty.
– **Curettage or resection** of the affected bone may be performed to remove fibrous tissue and abnormal bone. However, surgery can be challenging because cherubism lesions tend to be diffuse and involve multiple areas of the jaw. Aggressive surgery risks damaging important structures like nerves and teeth and may lead to recurrence or cosmetic issues.
– **Cosmetic and reconstructive surgery** may be necessary after the active phase of the disease has ended to correct residual facial deformities. This can include bone contouring, grafting, or orthognathic procedures to improve appearance and function.
– Because cherubism lesions often regress naturally, many surgeons prefer to delay surgery until after puberty unless urgent intervention is needed.
**Supportive and Symptomatic Care**
In addition to direct treatments for bone lesions, managing cherubism involves addressing symptoms and improving quality of life.
– Dental care is important since cherubism can affect tooth development and alignment. Orthodontic treatment may be needed to correct malocclusion.
– Psychological support can help children and families cope with the facial changes and social challenges related to the disorder.
– Regular follow-up with a multidisciplinary team including oral surgeons, endocrinologists, geneticists, and pediatricians ensures comprehensive care.
**Emerging and Experimental Therapies**
Research into the molecular mechanisms of cherubism is ongoing, and future treatments may target the genetic mutations or signaling pathways involved. Gene therapy or targeted molecular drugs could potentially offer more effective and less invasive options in the future.
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