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British Journal of Oral and Maxillofacial Surgery 53 (2015) 8385

Short communication

Familial gigantiform cementoma: distinctive clinical features

of a large Chinese pedigree
H.W. Wang, M. Yu, X.J. Qin , C.P. Zhang
Department of Oral and Maxillofacial-Head and Neck Oncology, Ninth Peoples Hospital, College of Stomatology, Shanghai Jiao Tong University School
of Medicine, No. 639, Zhizaoju Road, Shanghai, China
Accepted 16 September 2014
Available online 3 October 2014

Abstract
Familial gigantiform cementoma is a rare benign fibrocemento-osseous lesion of the jaws that can cause severe facial deformity. It has an
autosomal dominant mode of inheritance, but varies in its phenotype. It is more common in white, African, and East-Asian patients. Here
we report what is to our knowledge the first distinctive Chinese family with familial gigantiform cementoma involving 4 generations and 13
patients, and which suggests that the tumour presents with 3 distinctive growth phrases.
2014 Published by Elsevier Ltd. on behalf of The British Association of Oral and Maxillofacial Surgeons.

Keywords: Familial gigantiform cementoma (FGC); Chinese pedigree; Facial deformity; Long bone fracture

Introduction

Case report

Familial gigantiform cementoma is characterised by extensive, well-circumscribed, mixed radiolucent-radiopaque

masses in the mandible and the maxilla.15 It was first
reported in 1953 by Agazzi and Belloni.6 Here we
report a large Chinese pedigree with distinctive clinical
features.

A 13-year-old boy presented with a history of painless

enlargement of the mandible for 2 years, which had grown
rapidly for the past 8 months.
Orthopantograph and computed tomographic (CT) scan
showed multiple, expansile lesions, which were mixed
radiolucent-radiopaque masses surrounded by a well-defined
radiolucent rim throughout 4 quadrants of the patients jaws,
typically in the anterior portion of the mandible (Fig. 1). He
was treated by mandibulectomy, followed by reconstruction
with an iliac osteocutaneous free flap. The diagnosis was
made based on the pathological, clinical, and radiographic
features.
The patient had fractured his left femur 4 times and
his left tibia once before (Fig. 2). His alkaline phosphatase
activity was raised at 407 U/L preoperatively, and decreased
to 253 U/L (reference range 40375 U/L) postoperatively.
Screening for bone mineral density showed that his bone mineral content decreased to 76% of the range for the same age
group, and rose to 84% two months postoperatively.

Corresponding author at: Department of Oral and Maxillofacial-Head

and Neck Oncology, Ninth Peoples Hospital, College of Stomatology,
Shanghai Jiao Tong University School of Medicine, Shanghai 200011,
China. Tel.: +86 021 23271699x5160.
Co-corresponding author at: Department of Oral and MaxillofacialHead and Neck Oncology, Ninth Peoples Hospital, College of Stomatology,
Shanghai Jiao Tong University School of Medicine, Shanghai 200011,
China. Tel.: +86 021 63166731; fax: +86 021 63166731.
E-mail addresses: xnngo-go@163.com (H.W. Wang),
feifei09033@126.com (M. Yu), qinxj1989@sina.cn (X.J. Qin),
chenping zhang2009@163.com (C.P. Zhang).

http://dx.doi.org/10.1016/j.bjoms.2014.09.013
0266-4356/ 2014 Published by Elsevier Ltd. on behalf of The British Association of Oral and Maxillofacial Surgeons.

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H.W. Wang et al. / British Journal of Oral and Maxillofacial Surgery 53 (2015) 8385

Fig. 1. The 3-dimensional computed tomographic image shows multiple,

expansile, mixed radiolucent-radiopaque masses throughout all 4 quadrants
of the jaws, typically in the anterior portion of the mandible, which led to
appreciable facial deformity and malposition of the teeth.

Fig. 3 shows the distribution of the 13 affected members

in 4 generations of this pedigree. The 13-year-old boy was
the proband (IV:5). The trait was apparently passed to this
kindred by his great grandmother (I:2). The pattern of occurrence was consistent with an autosomal dominant mode of
inheritance. About three-quarters of all subjects at risk (13
of 18) were affected. The symptoms started from the ages of
1113 years, followed by a rapid and expansive growth phase
at the ages of 1416. The anterior mandible expanded most,
and most rapidly, usually 2 years earlier than the maxilla. The
growth suppression phase occurred around the ages of 18 to
20 years. Patients III:1, III:3, III:7, III:9, III:11, III:12, III:13
and IV:5 had several long bone fractures caused by minor
trauma between the ages of 13 and 16, and the femur was the
most common site. Patient I:1 had 4 femoral fractures, as did
patient III:3. Patient III:7 had 3 fractures, patient III:9 one,
patient III:11 had 3, patient III:12 had 2, patient III:13 had
3, and patient IV:5 had 5. Only patient IV:5 had a tibial fracture, at the age of 12. No patient developed a fracture after
the growth suppression phase.
Discussion
Familial gigantiform cementoma is a rare benign,
fibrocemento-osseous lesion that can result in noticeable expansion of the facial skeleton, and seems to be more
common among people of white, African, and East-Asian
origin.2,4,5,79 An autosomal dominant pattern of inheritance
is usually found with variable phenotypic expression.1,4,5,8,9
To our knowledge this is the first report of a large pedigree
in China, and the tumour is characterised clinically by 3
distinctive growth phases: initial onset, rapid expansion, and
suppression of growth.

Fig. 2. Our patient fractured his left femur 4 times. This radiograph shows
the second fracture of his left femur when he was 12 years old, which was
caused by minor trauma.

Its development typically starts in the first or second

decade, followed by rapid and expansive growth,4,8 and eventually stagnates in the fifth decade, even when untreated.4
However, the symptoms in all the patients in our pedigree
began when they were 1113 years old, and this was followed by a much more rapid and expansive growth phase
at the age of 1416 years. Growth was suppressed around
the ages of 18 to 20 years, much earlier than reported in our
previous study.4 We also first reported that the symptoms in
the mandible appeared about 2 years earlier than those in the
maxilla.
Multiple long bone fractures have been reported in a
number of studies.1,5,8,9 In our series 8 patients had multiple pathological long bone fractures (34/person) caused by

H.W. Wang et al. / British Journal of Oral and Maxillofacial Surgery 53 (2015) 8385

85

Fig. 3. This pedigree with 4 generations of the family illustrates the autosomal dominant transmission. The index case (IV:5) is identified by an arrow. Patients
II:8, III:11 and IV:5 manifested the most significant clinical expansion. Patients III:1, III:3, III:7, III:9, III:11, III:12, III:13 and IV:5 had several long bone
fractures caused by minor trauma between the ages of 13 and 16.  = male;  = female; , = death;  and = patients; = proband.

minor trauma between the ages of 13 and 16, but no fractures

before birth or after the age of 18. This differs from previous
reports. Though all patients in this family had raised alkaline
phosphatase activity and the bone mineral content decreased
preoperatively, the alkaline phosphatase activity returned to
the reference range and the bone mineral content increased
after resection of the lesions. This is distinctive, and possibly a marker of familial gigantiform cementoma in a Chinese
population, though the number of pedigrees is too small to
draw a conclusion.

Conict of interest
We have no conflict of interest.

Ethics statement/conrmation of patients permission

The Ethics Committee approved this report. All patients gave
informed consent to publication.

Acknowledgement
This work was supported by Scientific Projects of Health
and Family Planning Committee of Shanghai Municipality

(201440403); the Miao-pu Foundation of the Department

of Oral and Maxillofacial-Head and Neck Oncology of
Shanghai Ninth Peoples Hospital.

References
1. Shah S, Huh KH, Yi WJ, et al. Follow-up CT findings of recurrent familial
gigantiform cementoma of a female child. Skeletal Radiol 2012;41:3416.
2. Noffke CE, Ngwenya SP, Nzima N, et al. Gigantiform cementoma in a
child. Dentomaxillofac Radiol 2012;41:2646.
3. MacDonald-Jankowski DS. Gigantiform cementoma occurring in two
populations, London and Hong Kong. Clin Radiol 1992;45:3168.
4. Finical SJ, Kane WJ, Clay RP, et al. Familial gigantiform cementoma. Plast
Reconstr Surg 1999;103:94954.
5. Young SK, Markowitz NR, Sullivan S, et al. Familial gigantiform cementoma: classification and presentation of a large pedigree. Oral Surg Oral
Med Oral Pathol 1989;68:7407.
6. Agazzi C, Belloni L. Hard odontomas of the jaw: clinicoroentgenologic
and anatomo-microscopic contribution with special reference to widely
extensive forms with familial occurrence. Arch Ital Otol Rino Laringol
1953;64(Suppl. 16):1103 [in Italian].
7. Oikarinen K, Altonen M, Happonen RP. Gigantiform cementoma affecting
a Caucasian family. Br J Oral Maxillofac Surg 1991;29:1947.
8. Rossbach HC, Letson D, Lacson A, et al. Familial gigantiform cementoma with brittle bone disease, pathologic fractures, and osteosarcoma:
a possible explanation of an ancient mystery. Pediatr Blood Cancer
2005;44:3906.
9. Moshref M, Khojasteh A, Kazemi B, et al. Autosomal dominant gigantiform cementoma associated with bone fractures. Am J Med Genet A
2008;146A:6448.