INTRODUCTION
Many different pathological conditions may show histo-
logically multinucleated giant cells in a background of
ovoid to spindle-shaped mesenchymal cells. The range
of these diseases includes giant cell tumour, central and
peripheral giant cell granuloma, cherubism, and the
brown tumour of hyperparathyroidism.
The giant cell tumour is a benign, locally aggressive
neoplasm of long bones. Radiographically, it presents as
a radiolucent lesion with well-defined borders involving
the epiphyses. Its course is unpredictable, almost half
the lesions recur if treated by curettage only, and metas-
tases have been reported.
1
Peripheral and central giant cell lesions are reactive
lesions of the jaws. Peripheral lesions are usually related
to local factors and are supposed to arise from the con-
nective tissue of the gingiva or the periosteum of the
alveolar ridge,
2
and central lesions tend to develop in the
anterior portion of the mandible of young female
patients.
3
Some lesions grow slowly and do not recur,
while others grow rapidly and the cortex perforates, and
these often recur after excision.
3
Diffuse or focal bone lesions may be a consequence
of hyperparathyroidism.
4
The increased production of
parathyroid hormone initiates fibroblastic proliferation
and osteoclastic activity that mimic the histological pic-
ture seen in other giant cell lesions.
Cherubism is a genetic disorder that affects children.
The lesion is usually symmetrical and is characterized by
bilateral expansion of the mandible or the maxilla, or
both, that becomes noticeable within the first few years of
life. It enlarges progressively until puberty, and gradually
resolves by middle age.
5
Although it is often familial,
many sporadic cases have been reported. The lesions
vary greatly in size, ranging from minor lesions to large,
deforming, destructive ones with massive involvement
of both jaws.
6,7
Although locally aggressive cherubism has been
reported,
7–9
we do not know of any patients who have
died of the disease. The purpose of the present paper is
to describe an aggressive, multiple, and fatal case of
atypical cherubism.
CASE REPORT
An 8-year-old boy was referred to the Oral Diagnosis Service at
the Universidade Federal de Minas Gerais in August 1969 for
evaluation of a facial swelling (Fig. 1). Clinical examination
showed a well-developed, cooperative boy with enlargement of
the jaws and cheeks, and displacement of the eyes (Fig. 1).
Intraoral examination showed generalized alveolar swelling
and mobility of most teeth (Fig. 2). Radiograph examination
showed multiple extensive radiolucent areas in the maxilla,
body, and ramus of the mandible. Past medical and familial
histories were unremarkable. Haematological and biochemical
evaluation, including serum calcium and phosphorus concentra-
tions and alkaline phosphatase activity, were within the reference
ranges.
Histopathological evaluation of an incisional biopsy speci-
men showed multiple multinucleated giant cells together with
ovoid to spindle-shaped cells within a fine fibrillar collagenous
stroma (Fig. 3). There were deposits of haemosiderin and a few
mitotic figures. In addition, no perivascular cuffing was noted.
The diagnosis was cherubism. One month later he returned
with a deforming swelling and was admitted to the Hospital
das Clinicas, Universidade Federal de Minas Gerais (Fig. 4).
Laboratory investigations had not changed. Endocrinological
evaluation at that time included measurement of serum calcium
and phosphorus concentrations and alkaline phosphatase acti-
vity, calculation of the renal tubular resorption of phosphorus
index, and exploration of the parathyroid glands; but no abnor-
mality was detected. Because of the provisional diagnosis of
cherubism, it was decided at that time to follow up the patient.
British Journal of Oral and Maxillofacial Surgery (2002) 40, 45–48
© 2002 The British Association of Oral and Maxillofacial Surgeons
doi: 10.1054/bjom.2001.0654, available online at http://www.idealibrary.com on
45
BRITISH
Journal of
Oral and
Maxillofacial
Surgery
An extreme case of cherubism
E. C. Silva,* P. E. A. de Souza,* D. C. Barreto,* R. P. Dias,† R. S. Gomez*
*Department of Oral Surgery and Pathology, School of Dentistry; †Endocrinology Service, Hospital das Clínicas,
Universidade Federal de Minas Gerais, Belo Horizonte-MG, Brazil
SUMMARY. We describe an 8-year-old boy who presented with severe facial swelling. This progressed rapidly
and 17 months later he died of gastrointestinal and pulmonary infections. The diagnosis was initially brown
tumour associated with hyperparathyroidism, but this was revised in the light of laboratory investigations that
were within the reference ranges, and normal appearance of the parathyroids on exploration to that of an
extreme case of cherubism that behaved in a locally aggressive manner. © 2002 The British Association of Oral
and Maxillofacial Surgeons