Cherubism

A nonneoplastic, fibroosseous disease characterized by bilateral, and painless enlargement of the jaws that give the patient a cherubic appearance.

CRBM; Familial Benign Giant Cell Tumor of the Jaw; Familial Multilocular Cystic Disease of the Jaw.

First described by Frangenheim in 1914 and completed by C. Jones in 1933.

Approximately 280 cases have been reported in the literature.

Autosomal dominant trait, with males affected twice as often as females. Penetrance in males is 100% versus only 50 to 70% in females. It may appear as solitary cases or in several members of the family, often in multiple generations. Sporadic cases have also been described. The responsible gene encodes SH3BP2 (Src homology 3 [SH3] binding protein 2), which is located on 4p16.3. The SH3 region is a small protein domain and includes signaling proteins and cytoskeletal elements. These SH3 domains appear to function as mediators in protein-protein associations and regulation of cytoplasmic signaling.

Unknown. May be related to dental developmental processes in children, triggered by the eruption of secondary teeth.

Made based on clinical findings of characteristic “cherub-like” facies caused most often by symmetrical fullness of the cheeks and jaws, resulting in a round face and retraction of the lower eyelids with exposure of the sclera below the rim of the iris. Radiologic examination shows multilocular cystic changes in mandible, maxilla, and ribs. Histologic examination of affected areas reveals replacement of the normal bony architecture by proliferating fibrous tissues, containing numerous multinucleated giant cells.

Patients may look normal in the first years of life. The initial changes are characterized by unilateral fullness of the cheeks, most often starting during the second or third year of life (but later onset is possible). Eventually, both mandibular rami and angles are involved, along with the maxilla. The growth rate is fastest during the first 2 years, then slows down and finally regresses during puberty. Hypertelorism is a constant sign. There is also an association with hyperplasia of cervical lymph nodes. The teeth are often loose and irregularly positioned. Extragnathic skeletal involvement is rare. Conservative management is recommended because it is a benign, self-limited condition. However, curettage of tissue hindering nasal breathing or function of the tongue may be indicated. Surgery may be requested for cosmetic reasons. Patients are mentally normal.

Airway management is the main anesthetic problem in these patients. Thorough assessment is mandatory (e.g., check mouth opening, neck mobility, thyromental distance, Mallampati Score) to obtain an idea of what to expect. Skull radiographs may be helpful. Note the presence of any loose teeth.

Severe cases requiring surgical correction often present with marked enlargement of the mandible and maxilla. Mouth opening may be severely limited and the intraoral space significantly reduced because of enlargement of the bony structures. The teeth are often loose, and enoral ulcerations are not uncommon. Nasal intubation, either blind or better under fiberoptic bronchoscopic guidance, is preferred in such corrections to facilitate surgical correction. However, narrowing of the nasal airway is possible and should be ruled out before nasal intubation attempts. Preferably, awake fiberoptic intubation is done in patients with potential upper airway problems. Postoperative mechanical ventilation may be necessary to allow the surgical edema to subside before extubation.

Muscle relaxants should not be administered until the airway has been secured.

Ramon Syndrome: An autosomal dominant inherited disorder with cherubism, dwarfism, spinal abnormalities (which may make intraoperative positioning difficult) and neurologic impairment, including mental retardation and seizures (whose therapy could interfere with the metabolism of anesthetic drugs).

Cherubism Optic Atrophy Short Stature Syndrome (Al Gazali Khidr Prem Chandran Syndrome): Cherubism associated with dwarfism and visual impairment.