Familial Gigantiform Cementoma with Calcium Steal Phenomenon and Social Stigma: A Case Report with Review of Literature

Abstract

Cemento-ossifying fibromas are benign fibro-osseous lesions characterized by deposition of cementum and fibrous tissue. Familial gigantiform cementoma (FGC) is an exceeding rare and distinct subtype of cemento-osseous-fibrous lesion. We hereby present a case of FGC in a young boy who was left to die due to the social stigma caused by the massive bony growth in the upper and lower jaw. The patient was somehow rescued by a non-governmental organization and underwent his surgical management at our hospital. On family screening, the mother also had similar smaller asymptomatic lesions in the jaw, but she refused further investigations and treatment. FGC is frequently associated with “calcium-steal phenomenon,” which was also seen in our patient. Family screening is therefore necessary to identify asymptomatic patients in the family and follow them up with radiology and whole body dual-energy absorptiometry scans.

Introduction

Cemento-ossifying fibromas (COFs) are benign non-odontogenic tumours of the jaw characterized by massive deposition of cementoid substance or cementum mixed with fibrous tissue [1]. “Gigantiform cementoma” (GC), first described in the 1971 WHO classification, is a rare and distinct form of fibro-cemento-osseous lesion with unknown aetiology. Its familial form, the “familial gigantiform cementoma” (FGC) has a predilection for younger individuals and is characterized by rapid osseous growth involving all four quadrants of the jaw [2, 3]. Herein, we present a rare and unusual case of large jaw masses and bony abnormalities in a child with similar smaller asymptomatic lesions in the mother along with “calcium-steal phenomenon”. To the best of our knowledge, this is the first case of FGC reported from our country.

Case Presentation

Three years ago, an eight-year-old boy, first-by-order, born of a non-consanguineous marriage, was noticed to have small swellings around his mouth. At the same time, according to the parents, the child suffered a minor trauma followed by increasing difficulty in walking due to increasing deformity of his legs. The child was then locked in a room due to social stigma and was provided minimal basic care to ease his journey towards a fatal denouement. The jaw masses kept on increasing from the size of approximately 3 × 3 cm to the present size of 10 × 8 cm (Fig. 1). Three years later, the child was rescued by a non-governmental organization (NGO) and was brought to our hospital for medical treatment.

Fig. 1.

a A poorly nourished child with a highly disfigured face due to a huge bony mass involving the upper and the lower jaw. There was bilateral anterior bowing of the legs and marked thinning of the other bones. b CECT scan showing a heterogeneously enhancing solid mass with mixed densities and areas of calcification. The lower jaw mass was “dumbbell” shaped. c X-ray of the lower limbs showing anterior bowing of the tibia and marked osteoporosis

Clinical examination revealed a huge mass measuring 10 × 8 cm involving the upper maxillo-facial bones and another 5 × 5 cm dumbbell-shaped mass involving the lower jaw (Fig. 1). These masses were bony hard. Skeletal survey showed other bony abnormalities like anterior bowing of bilateral tibia, osteoporosis and pectus carinatum, which were suggestive of Rickets (Fig. 1). Laboratory investigations revealed a serum calcium levels of 9.51 milligram/decilitre (mg/dl), very low serum vitamin D levels (5.4 nanogram/dl) and a high serum alkaline phosphatase (1054 units/litre). Serum parathyroid hormone levels were 236.2 picogram/millilitre. The parathyroid glands were normal on sestamibi scans. Contrast-enhanced computed tomography (CECT) scan revealed a heterogeneously enhancing solid mass with internal calcification in the upper and lower alveolus with major bulk of the disease in the left maxilla and right mandible. Radiological impression was a giant fibro-osseous lesion. A differential diagnosis of hyperparathyroidism-jaw tumour syndrome of primary hyperparathyroidism was considered; however, the parathyroid glands were normal on scans.

Subsequently, the child underwent an incisional biopsy from the maxillary region growth. Histology showed a moderately cellular tumour composed of banal, epithelioid to spindle cells with moderate amount of cytoplasm. Cellular pleomorphism, atypical mitoses or necrosis were absent. Scattered within the cellular component were islands of eosinophilic material and at places in concentric layers resembling cementum. A biopsy diagnosis of fibro-osseous lesion, possibly COF, was suggested. Subsequently, a debulking surgery was performed to improve the general condition of the patient. A tracheostomy was performed to secure the airway, and the surgery was performed under general anaesthesia.

Gross examination of the maxillectomy specimen included multiple bony hard pieces aggregating to 26 × 25 × 8 cm. The middle third mandibulectomy specimen revealed a solid bony tumour measuring 15 × 13 cm. Cut surface of both the masses was solid, hard and gritty to cut and bony to feel. Histological examination revealed a similar fibro-osseous tumour seen in the previous biopsy. The histomorphology and radiological features were compatible with a giant COF (Fig. 2). Mandibular reconstruction was done using a custom-made titanium prosthesis to avoid the possible disfigurement and also to maintain the function (Fig. 3).

Fig. 2.

a Gross image of the dumbbell-shaped lower jaw with loss and disorganized dentures. b Gross image of the maxillary mass received in multiple pieces. The mass was solid and bony. Cut surface was solid, ivory white and bony hard. c Scanner view (HE ×40) showing overlying oral squamous mucosa, underneath native host bone and a fibro-osseous lesion. d Low power view (HE100x) showing the fibro-osseous lesion. e–f (HE ×200 and HE ×400)—Histology shows bland spindle to epithelioid cells with moderate eosinophilic cytoplasm in a dense fibrous stroma and multifocal islands of dense eosinophilic material consistent with cementum

Fig. 3.

Post-operative image of the patient

Based on the clinical profile and the histology, the parents were also screened for any fibro-osseous lesions to rule out a familial association. To our surprise, the mother of the child had multiple small, clinically asymptomatic bony lesions involving the maxilla and the mandible supporting the familial nature of the disease. However, she refused any further tests and procedures. Patient is on regular follow-up and has no evidence of disease till the last follow-up at 8 months.

Discussion

COF is a fibro-cemento-osseous lesion arising from the periodontal ligaments, histology of which ranges from deposition of cementum to deposition of bone. These are usually single lesions involving the maxillo-facial bones occurring in the second to fourth decades of life with a male-to-female ratio of 1:5 [4]. However, Su et al. reviewed 75 patients of COF and reported equal sex predilection except in the fourth decade which had a female predominance. COF are more common in the mandible than the maxilla, specifically in the premolar-molar region [5]. GC is characterized by rapid osseous growth involving the jaw bones, usually all four jaw quadrants as seen in our patient. Pathogenesis of COF is very unclear, and various theories like embryonic nests, ectopic periodontal membrane, infection-induced inflammation and fibrosis, and local trauma to the periodontal tissue are proposed for its origin [4].

FGC are rare entities with approximately only 17 cases (4 families) reported in the literature to our best knowledge (refer to Table 1). They have an autosomal dominant transmission with predilection for younger age and exuberant growth with multi-quadrant jaw involvement as seen in our patient [2, 6]. Although it was believed that FGC is limited to the facial bones, Rossbach and Moshref described few cases with tibia, fibula and humerus involvement (Table 1) [7, 8]. These patients present with a unique phenomenon called the “calcium steal phenomenon” wherein there is a disorganized calcium metabolism causing abnormal and excessive calcium resorption at one site and excessive deposition of the same at another site. This results in mass formation at the deposited site (usually the mandible and maxilla) and thinning and osteoporosis in other bones, usually the long bones [1, 2]. This “calcium steal phenomenon” was evident in our patient who had huge facial lesions with thinning and bowing of bilateral tibias due to osteoporosis.

Table 1.

Cases with giant cementomas with or without familial* associations [2, 7–10]

Patient	Age (years)	Gender	Age at time of first fracture	Fracture sites/bones involved
Ma et al.
Index case	10	M	4	Bilateral tibia and fibula
Father	–	M	10–13	Femur and tibia
Aunt	–	F	11–15	Femur and tibia
Uncle 1	–	M	18	Femur
Uncle 2	–	M	10–14	Femur, rib
Grandfather	–	M	11–16	Femur, ilium
Grandfather’s sister	–	F	12–14	Femur and tibia
Moshref et al.
Index case	48	M	42	Mandible, right humerus, both proximal femur, right tibia
Brother	51	M	40	Proximal humerus, tibia
Son 1	25	M	22	Humerus, right proximal femur, left distal femur
Son 2	20	M	–	–
Rossbach et al.
Index case	12	F	8	Tibia, osteosarcoma
Mother	28	F	7	Proximal femur, distal right femur, both tibia and 3 ribs
Sister	8	F	5	Right clavicle, right proximal femur, right tibia/fibula, left tibia
Brother	6	M	–	–
Noffke CEE et al.
Index case	6	F	-	-
Şakar et al.
Brother	34	M	–	–
Sister	38	F	–	–
Yadav et al.
*Present case	8	M	8	Bilateral tibia
Mother	38	F	Incidentally detected on screening	Maxilla and mandible

M Male, F Female

Noffke CE and Şakar O also reported similar cases wherein Şakar O reported 2 cases in siblings with Ehler–Danlos syndrome which also has an autosomal dominant inheritance indicating some association between the two [9, 10]. Surgical excision is the most common method of managing COF/GCs wherein the smaller lesions are enucleated, while the larger lesions require radical surgery. Radiotherapy is contraindicated as these lesions are radio resistant and there is a risk of malignant transformation [11].

Conclusion

Multiple lesions involving both maxilla and mandible in younger individuals with evidence of rickets or osteoporosis in other bones due to “calcium steal phenomenon” warrant genetic testing to rule out familial nature of these lesions and require regular follow-ups to look for recurrences and fractures.

Author Contributions

SY and NM were involved in concept, design and definition of intellectual content. SY and NM were involved in literature search, methodology manuscript preparation and editing. SY, NM, MB, and SQ were involved in manuscript preparation, editing and manuscript review. SY is guarantor and was involved in supervision.

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflict of interest.