A family of familial gigantiform cementoma: clinical study

Abstract

Background: Familial gigantiform cementoma is an autosomal dominant fibro-cement osseous lesion that causes massive expansion of facial skeleton. Patients with such massive lesions have a compromised quality of life. The main goal of treating such patients is to restore and preserve the jaw as far as possible which would enhance their quality of life.

Purpose: This study was conducted to identify the occurrence of gigantiform cementoma which had affected three generations of a family and also to focus on documentation of the clinical course and management.

Method: Patients (one family-mother, grandmother, aunt and grandson) who had visited the Department of Oral and Maxillofacial Surgery, Tamilnadu Government Dental College and Hospital, Chennai, over a period for their swelling in the maxillofacial region were clinically and radiographically evaluated and histopathologically diagnosed as familial gigantiform cementoma; later, they were surgically managed.

Result: It is very rare to document three generations of this disease which had shown varied clinical presentation (asymptomatic slow growth, arrested growth and one case of aggressive growth). Management of these cases varied from observation to aggressive resection.

Conclusion: Gigantiform cementoma follows an autosomal dominant pattern of inheritance with variable phenotypic expression without gender predilection. These cases require regular observation and intervention if necessary.

Keywords: Alkaline phosphatase; Autosomal dominant; Familial; Familial gigantiform cementoma; Radio opacities.

Fig. 1

Patient presenting with massive swelling over the left side of the mandible

Fig. 2

X-ray AP view showing radio-opaque mass

Fig. 3

X-ray lateral view

Fig. 4

CT facial bones showing expansile lytic lesion in left mandible and radioopacities in all the four quadrants

Fig. 5

Patient’s grandmother with a swelling in the maxillary anterior region

Fig. 6

Patient’s grandmother’s sister with a swelling in the mandibular right posterior region

Fig. 7

Patient’s mother with a small swelling in the mandibular left posterior region

Fig. 8

Intubation

Fig. 9

Lesion removed in toto

Fig. 10

Two weeks post operatively

Fig. 11

Pictomicrograph showing irregular calcified material in a fibrous stroma