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
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 ...