Signs, Symptoms, and Diagnosis of Cherubism
- Appearance of people with cherubism caused by loss of bone in mandible replaced with excessive fibrous tissue
- Cherubism causes premature loss of primary teeth and lack of eruption or displacement of permanent teeth
- Condition usually fades as child grows, but in rare cases it continues to deform affected person's face
- Cherubism affects the orbital area, creating an upturned eye appearance
- Afflicted individuals may experience emotional trauma and interference with normal jaw motion and speech
- Dental abnormalities, such as premature deciduous teeth and abnormal growth of permanent teeth, can indicate cherubism
- X-ray and CT scans are used for initial study of the patient
- Genetic testing, specifically sequence analysis of the SH3BP2 gene, is the definitive diagnosis tool
- Cherubism may resemble neurofibromatosis, so proper diagnosis is important
- Genetic counseling may be recommended to decrease occurrences of cherubism
Causes and Genetic Studies of Cherubism
- Cherubism is autosomal dominantly linked
- Males tend to express the disease more frequently than females
- Mutation of the SH3BP2 gene is believed to be the cause of cherubism
- Cherubism can also be combined with other genetic disorders
- Mutations of the SH3BP2 gene are reported in 75% of cherubism cases
- Several genetic studies have been conducted to better understand the underlying mechanisms of cherubism
- Ongoing research aims to identify potential therapeutic targets for cherubism and develop more effective treatment strategies
Prevention of Cherubism
- Genetic counseling may be the only way to decrease occurrences of cherubism
- Lack of severe symptoms in parents may make it difficult to recognize the disorder
- Testing for mutations prior to having children is optimal
- Cherubism results from a genetic mutation, which can spontaneously occur
- Prevention techniques may not be available
Treatment and Management of Cherubism
- Treatment should be individually determined based on the progression of cherubism
- Moderate cases may be watched until they subside or progress
- Severe cases may require surgery to remove cysts and fibrous growths
- Orthodontic treatment may be necessary to address dental problems
- Patients with orbital issues may require ophthalmologic treatment
- Regular dental and orthodontic care is essential to address dental abnormalities and malocclusion
- Surgical interventions, such as debulking of the jaw swellings or orthognathic surgery, may be considered in severe cases or for cosmetic purposes
- Long-term follow-up is necessary to monitor the progression of the disease and manage any complications that may arise
Prognosis and History of Cherubism
- Cherubism does not have a poor prognosis in general
- Condition does not progress beyond puberty
- Jawbone lesions tend to resolve as the patient grows to adulthood
- A progressively more normal jaw configuration is noted over time
- Reliable statistics on prognosis are difficult to estimate due to the rarity of the condition
- Cherubism was first documented and named in 1933 by Dr. W. A. Jones
- Dr. Jones described a case of three siblings of the same family of Jewish Russian heritage
- Facial deformity became obvious disfigurement by the time the children reached their late teens
- The children underwent surgeries to reduce the swelling of their jaws
- Four years following the surgeries, there was no reappearance of the swellings
Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name is derived from the temporary chubby-cheeked resemblance to putti, the chubby-faced infants featured in Renaissance paintings, which were often mistakenly described as cherubs.
| Cherubism | |
|---|---|
 | |
| Three-dimensional computed tomograph of a 41-year-old woman diagnosed with cherubism shows a remarkable expansion of the mandible, which can lead to a soap bubble appearance, and the bilateral bulges of the maxilla | |
| Specialty | Medical genetics |
