PDF | Familial gigantiform cementoma is an exceedingly rare but distinct subtype of cemento-osseous-fibrous lesion. Undocumented. Very few cases of gigantiform cementoma have been reported, and those associated with a positive family history are especially rare. Confusion exists about the. Familial gigantiform cementoma is a rare benign fibrocemento-osseous lesion of the jaws that can cause severe facial deformity. It has an.

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Familial gigantiform cementoma is an exceedingly rare but distinct subtype of cemento-osseous-fibrous lesion. Undocumented radiographic changes and related bone metabolism disorder are herein hypothesized and discussed. We present an adolescent case with recurrent familial gigantiform cementoma who received surgical intervention in our hospital.

Apart from typical multiquadrant and expansile abnormalies involving both jaws, he also suffered from several times of fractures in lower extremity. Furthermore, radiographic examinations of calvaria, pelvis, femoris, tibia, and fibula all revealed radiolucent areas signifying diffuse osteopenic bone losses.

Some of his consanguineous relatives bore the same burden of fractures during pubertal period. Familial gigantiform cementoma FGC is a distinct and uncommon fibro-cemento-osseous lesion with unknown etiology. According to the latest World Health Organization WHO classification of cemento-osseous dysplasias CODsFGC is generally characterized by rapid osseous expansion involving all 4 jaw quadrants with predilection for young patients.

Besides, it follows an autosomal dominant inheritance pattern with divergent phenotypic expression. As far as our knowledge is concerned, this pathognomonic trait thus necessitates timely and appropriate surgical treatment to prevent these terrible clinical scenarios from spinning out of control. Genetically predisposing as FGC seems, emphasis of management has largely been confined to mostly afflicted maxillas and mandibles.

However, extragnathic presentations of FGC in patients have often been neglected, owing in part to rarity of this disease.

Familial gigantiform cementoma: classification and presentation of a large pedigree.

Among all the reports available, Rossbach et al 3 was the first to postulate the correlation of a brittle bone disorder with FGC. Nevertheless, in terms of his description, the progression of cdmentoma and related underlying causes has not been clarified. Therefore, we present a case with a large FGC family history so as to sketch a more detailed portrait of such ailment. The ethical approval was granted by the Institutional Clinical Research Supervision Committee of our hospital. Besides, the informed consent was obtained from these patients.

A year-old male patient was referred to our hospital for recurrence of a huge benign tumor in oral cavity. His chief concern was dysmasesis and dysphagia caused by a protuberant mandible since 10 years old. Surgery with recontouring and shaving intent was initially attempted in a local institution about 7 months ago, but in vain. The growth of the disfigured mandible had not yet been deterred, but instead, accelerated, accompanied by teeth loss and altered dietary patterns.

As a direct consequence, physical deterioration was also found by his parents. A The adolescent familiap with a huge mass extending along the mandible body. B Preoperative panorex X-ray showed a characteristic radiographic feature of familial gigantiform cementoma FGC with well-circumscribed radiopaque areas involving all quadrants of the jaw, with mandible being more severely damaged.

C Lateral view of FGC.

Familial gigantiform cementoma with Ehlers – Danlos syndrome: A report of 2 cases

D Postoperative view of patient after bilateral mandibulectomy. E Postoperative panorex X-ray showed vascularized iliac bone flap for reconstruction.

F 3-D computed tomography reconstruction of postoperative view. His previous surgical history was famlial and extensive. Before referral, he had experienced 4 times of fractures in bilateral lower extremities within 4 years. All these fractures, which occurred in diaphyseal locations, were categorized to a minor-trauma or spontaneous causes owing to poor evidence of outside forces.

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The radiographic evaluations of lower limb revealed decreased bone density and thinner- or void-cortex structures around fracture regions.

Suspicious of similar osseous problems in other anatomic locations, we then recommended a pelvic computer tomography CT scan to the patient. Based on findings garnered from CT, it was noteworthy that 2 big circular deficits could be easily detected on both sides of the iliac bones. Besides, his pelvis was also considered to be susceptible to fractures because both cortical and trabecular bones were undergoing a progeric or osteopenic conversion signifying an unexpected calcium loss.

Loss of lamina dura, decreased skull bone density, and sporadic bony defects all served as convincing evidence of the serious osseous fragility. To further identify the specific reasons for multiple fractures alongside these osseous changes previously described, whole-body dual-energy absorptiometry DEA measuring bone mineral density BMD was then offered under permission of the patient and his parents.

E Technetium scintigraphy showed increased tracer uptaker in the chin area.

F Two bony defects were identified in reconstructed pelvic CT images. For sake of differential diagnosis with hyperparathyroidism-jaw tumor HPT-JT syndrome, 4 several cemfntoma analyses, which included serum parathyroid hormone PTH gigantifom, phosphate levels, calcium levels, and alkaline phosphatase ALP activity, gigabtiform undertaken accordingly.

All these results came out with no marked aberrance. The feasibility of using fibular flaps was ruled out in view of his unfortunate history of frequent lower-extremity fractures. In concurrence with the boy and his parent’s wishes, we decided to perform a bilateral segmental mandibulectomy and to tentatively reconstruct the corresponding defect with vascularized iliac bone flaps. During month follow-up afterwards, the young patient experienced another physical blow of minor-trauma fracture near the femur neck.

Since then, supplementation of calcium and vitamin D had been prescribed as a method to ameliorate the general calcium metabolism disorder. For the latest visit to our clinic gigajtiform months ago, the outcome in the neomandible region was desirable, and in parallel, the recent DEA test result took a favorable turn as BMD had increased to Misfortunes and troubles never come singly.

Closer examination of his family pedigree verified our concern of gigantiofrm long-standing phenomenon of multiple fractures accompanying FGC in jaws.

She was yet no exception given her own narratives of femur fracture during adolescence. A The adolescent patient’s aunt who had received surgery nonvascularized iliac bone reconstruction 30 years ago now complaint of anterior maxillary mass with chronic infection.

B Reconstructed computed tomography image of familial gigantiform cementoma appearance. According to the World Health Organization classification of osseous dysplasias ODFGC is generally regarded as an odontogenic lesion that shares a same periodontal ligament origin with focal, periapical. In addition, FGC also cementona a striking tendency toward more exuberant growth with multiquadrant jaw involvement. Familisl knowledge concerning FGC has been broadened for the recent proposition of the possible correlation with polyostotic diaphyseal fractures.

Circumstantial evidence and thorough reasoning were presented in his article for differential diagnosis with other easily mistaken diseases, such as Paget disease, cemento-ossifying fibromas and osteogenesis imperfecta. InMoshref et al 8 giganyiform reported a FGC case series with frequent fracture history. He surmised that this phenomenon was merely because of genetic heterogeneity and not every case would develop such obvious concurrence of FGC and fractures.

Admittedly, not every FGC case will present such evident array of disorganized conditions. We might not hastily come to the conclusion that coexistence of FGC and polyostotic pathologic fractures is mere coincidental clinical manifestation. During the rapid growth phase of FGC in mandible and maxilla, the other bones, especially long bones in lower extremities, were simultaneously undergoing a calcium absorption or transportation problem, as was reflected in the osteoporotic radiographic changes in our adolescent patient.


The sharp contrast of CT images between densely bony deposits in FGC lesion and the radiolucent low-density images confirmed our hypothesis that both maxilla and mandible of FGC shared unevenly and favorable distribution of calcium deposits in the general calcium cemeentoma of whole body. In similar manner, large FGC lesion tends to gigantifoorm most calcium deposits and thereby extend itself with osseous growth.

However, owing to such diversion of calcium supply, bone fragility was cemdntoma in the other anatomic regions, especially in lower extremities. To keep both practitioners and patients informed of the overall bony changes and corresponding risks of fractures, we contended that DEA should be routinely tested since initial clinic visit.

Familial gigantiform cementoma: classification and presentation of a large pedigree.

Compared with other 3 CODs, FGC takes on a really unique and aggressive form of behavior that is not supposed to be clinically approached in the existing framework of classification. Therefore, we agree with Noffke et al 14 and Finical 15 in resorting to a complete resection of FGC with curative purposes whenever feasible. Incomplete excision or shave-off contouring is not advised because it may cause a possible aggravation or reactivation of rapid FGC growth.

In such scenarios, extensive resection and free-flap reconstruction are required to achieve a better outcome. Apart from that, it is still debatable about the timing of surgical intervention for FGC patients. A review of latest articles showed that mandible remains to be the most seriously affected organ, in contrast to maxillary lesion.

To sum up, our unusual radiographic and clinical findings of FGC give rise to a renewed understanding and a broad change to the stereotypic definition.

Despite the paucity of information regarding FGC, DEA, as we believe, carries diagnostic and therapeutic implications, along with other figantiform examinations. The authors report no conflicts of interest. National Center for Biotechnology Information fxmilial, U. Journal List Medicine Baltimore v. Published online Mar 7.

Author information Article notes Copyright and License information Disclaimer. This is an open access article distributed under the Creative Commons Attribution License 4. This article has been cited by other articles in PMC. Abstract Familial gigantiform cementoma is an exceedingly rare but distinct subtype of cemento-osseous-fibrous lesion.

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