A CHilD WITH A SWOllEN FACE
Are any brothers or sisters affected? For similar reasons, siblings would be expected to show similar signs.
• How do you iull"I"'" II/I's,' "1'1"'llrlwCl!s? Arc IIrey consistl'nt witll clll'","ism?
lesions with many giant cells fall into two broad categor~s, those With granulomas, such as tuberculOSIS, sarcoidosis and foreign body reactions, and the glant-ceJlleslOOs. No granulomas are present and these appearances Indicate a glant<elliesion, the causes of which are: • central glant<:ell granuloma • brown tumour of hyperparathyrOidism • aneurysmal bone cyst • cherubism.
How was the lower second deciduous molar lost? Cherublsm may cause early exfoliatIOn of teeth.
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Would all.'1 fu,tlll'T rtldioXrtll,/rs IrI'/" wllfi,m II... diagnosis?
More detailed radiographIC examination WIth Intraoral films would be helpful tor the following reasons. • To demonstrate Involvement of the maxilla. More severely affected patients usually have leSions In the maxilla, usually centred on the tuberOSity but sometimes extending to distort the orbit. These can easily be missed on exlraoral films but. If present. confirm the diagnoSIs. • To identity displacement Of destruction of teeth. As noted above, cflerublsm often destroys tooth germs and displaces teeth.
These conditions cannot be distinguished from one another on histological grounds alone. However, !fIe only one which matches the clinical and radiographic findings IS cherublsm.
DIAGNOSIS T,lkcn together, the evidence supports " diagnosis of cherubism and this is a typical casco
In a classical case of cherubism, the diagnosis may be made wrtt1 certainty on the baSIS 01 family hiStOry, clinical and radiographic features. In a new case such as this, or ~ there were no family histOry, It would be prudent to confirm that the lesions are histologically compatible WIth cherubism.
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AETIOLOGY •
Cherublsm IS caused by anyone of several mutalions In the gene for SH38P2, a regulator of the C.Abl oncogene, a poorly understood Signalling molecule involved in regulation of cell diviSion and many other cell functions. The condition is usually inherited in an aulosomal dominant fashion. It would be expected that one parent would be similarly affected. Females are olten less severely affected and cases may appear to be sporadic.
biospy sped",c" lUllS rl'mOVCI' from tIll' I'xpalllll!l/ll/tll'o/llr ridge. Till' Irislologiml appCllfllJICCs are shown i" Figllrl' 54.3. WllIlt do yOIl s,'e?
A
The leSion IS composed of cellular fibrous IIssue which appears loose and oedernatous With spaces rather than dense collagen between the cells. Scattered In the fibrous tissue are multmucleate giant cells. These are relatively small giant cells and have only 4-8 nuclei each.
TREATMENT •
Fill. 54.3 The hlstological appearance of the ImPsy specimen.
Wllllt is tI", ClIl/S,' of clU'ml,ism?
Wllat 'rl'atml'''f wOII/llHOIi fI'CUmmI'1II1? Wllllt other Ildl'icl' W01l1d yOIl givl' fa 1/11' Pllfl'lItS?
No treatment is reqUired though the parents and child may need reassurance. The parents can be told that leSions of cherubism usually grow fastest before the age of 5. Although !flere will be further growth dUring the next few years, the leSions will stop growing spontaneoosly and start to regress around the age of puberty. The swelling shoold have completely resolved by the age of 25 and only radiographic changes will remain Into the fourth decade. Surgical intervention is not usually necessary but may be performed for cosmetIC reasons if leSions resolve slowly. Some teeth will be lost through the disease process. The parents should also be warned that future children and Siblings are likely to be affected. GenetIC counselling would be appropriate.
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