Friday, Oct 24, 2014 | 10:43 AM

Madisons Foundation - Moms And Dads In Search Of Needed Support

Cherubism
Sunday, 29 August 2004
Sunday, 28 November 2004

What

Cherubism is a rare and harmless genetic condition characterized by painless swelling of the cheeks due to replacement of the bones that make up the lower part of the skull and jaw with fibrous tissue. The two bones affected are named the maxilla and the mandible. It is currently thought that this condition occurs when there is a change in a gene that affects the function of the cells that breakdown bone (osteoclasts) and buildup bone (osteoblasts). Usually, osteoclasts and osteoblasts work in a balanced manner to maintain the structure and strength of bones. It is thought that a genetic change results in the activation of osteoclasts, which results in increased breakdown of bone. Osteoblasts are also affected in this condition, causing them to grow atypically. What results is an imbalance in the function of osteoclasts and osteoblasts. This imbalance in turn results in the formation of fibrous tissue within the jaw bones and in a puffy cheek appearance.

Who

People of all races are likely to be affected. Twice as many males as females are affected and the reason for this is not known. Two hundred cases have been described in the medical literature, though it is estimated that this condition occurs much more commonly.

Signs and Symptoms

Signs and symptoms usually first appear in early childhood, around the age of 2-7 years, and usually begins to go away with the start of puberty. The puffy cheek appearance usually goes away by the third or fourth decade of life. Common signs and symptoms include; 1. Swelling of the jaw; when the swelling goes away, often an enlarged jaw remains 2. ‘Looking at the sky’ appearance- enlargement of bottom part of the eye and reduced support of the lower eyelid results in the appearance of an upward movement of the eyeball. This gives the characteristic “cherub” appearance (angelic-like, as depicted in Renaissance paintings). 3. Abnormal teeth 4. Thick gums (gingivae) 5. Enlarged lymph nodes under the jaw

Possible Causes

Scientists believe that the gene that is changed in cherubism is located on chromosome 4. Current thinking is that the inheritance is autosomal dominant, though some cases of possible autosomal recessive inheritance have been seen. Most children with cherubism have one parent who had cherubism as a child, but a new (de novo) genetic change has been described. Since more males than females are affected, evidence suggests that penetrance in males is 100% whereas penetrance in females is 50-70%, this is referred to as, “decreased penetrance”. A decreased penetrance means that not all females that have the cherubism genetic change have the characteristic signs and symptoms of this condition.

Diagnosis

The diagnosis of this condition is based on finding the above described signs and symptoms on physical exam, family history and imaging studies. X-rays or CT scanning can also be done in order to visualize changes within the bones. Histologic studies may also be done to evaluate the tissue for changes.

Treatment

Most often, this condition goes away on its own without any medical intervention. Symptoms usually first start to go away in the maxilla and then in the mandible. However, if the child is experiencing pain because of the fibrous enlargements a surgical procedure can be done to try and remove the fibrous tissue on the bone. Removal of some of the teeth may also be recommended under certain circumstances. It is important to ensure that a child with this disorder feels comfortable with their appearance and has someone to talk to about it because any unusual appearance can be very difficult to deal with during the teen age years.

Prognosis

Children with cherubism grow up to live normal and healthy lives.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Growing up with cherubism by Vicky Lucas
Personal story.

Cherubism: Familial Fibrous Dysplasia of the Jaws
Overview of written history of cherubism in the practice of medicine, two case presentations and extensive review of literature. Research-

Cherubism
Contact information for researchers involved in studies of cherubism at Harvard-Forsyth Department of Oral Biology in Boston, MA.

Google Search for Cherubism

References and Sources

OMIM: Cherubism www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118400