Introduction
Familial gigantiform cementoma (FGC) is an extremely uncommon genetic condition that primarily affects the jawbones and teeth. It results in the abnormal overgrowth of cementum, a dental tissue, leading to facial deformities and dental problems. This condition tends to run in families due to its hereditary nature, and individuals with this disorder often require complex and extensive surgical treatments to manage the disfigurement and dental issues associated with it. While it is rare, early diagnosis and intervention are crucial for improving the quality of life for those affected by familial gigantiform cementoma.
How Is Familial Gigantiform Cementoma Classified?
Cementomas are known as benign-natured fibro-osseous periodontal tumors. These are majorly categorized into four types:
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Cementoblastoma.
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Cementifying fibromas.
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Periapical cemental dysplasias.
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Gigantiform cementomas.
Familial gigantiform cementoma has distinctive manifestations in the jaw and the etiology or pathogenesis regarding this fibro-cemento-osseous lesion still needs investigation by research and currently remains elusive. According to the information given by the World Health Organization (WHO), familial gigantiform cementoma belongs to or is rather classified under cemento-osseous dysplasia lesions (CODs). This condition has more predilection for younger patients and is attributed to following a genetic pattern. An autosomal dominant inheritance pattern of this disease with a divergent phenotypic expression is the description given for this rare jaw disease in dental literature.
Where Does Familial Gigantiform Cementoma Have Its Origins?
Gigantiform cementoma was one of the first pathologic jaw conditions or diseases to be reported in oral pathology literature in 1930 by Norberg. They termed this condition as a ‘’diffuse radio-opaque mass" that seemed scattered throughout the jaw segments like a massive expansion. According to the description by Agazzi and Belloni in the year 1953, an Italian family comprised of several family members who were affected with this disease, and hence, it was designated later on as familial gigantiform cementoma. Familial gigantiform cementoma is known to present clinically only in children or in young adults in the first two decades. Because of its genetic origin, following an autosomal dominant pattern of inheritance, it does not have any racial or gender predilection.
What Are the Clinical Features of Familial Gigantiform Cementoma?
This condition is clinically characterized when all four jaw quadrants of affected patients undergo osseous or bony expansion. These bony expansile jaw lesions are often indistinguishable from affected patients in their early stages. Consequently, familial gigantiform cementoma can exhibit high local aggressiveness or acute and sudden onset, akin to cancers or neoplastic lesions. Once the bony expansion of the jaws begins, it can result in severe malocclusion, improper bite, and pronounced facial deformities due to the jaw and bone plate expansion. Because this disease affects all four quadrants of the jaws, both the upper and lower jaws are impacted, leading to both functional and aesthetic issues.
A significant similarity between FGC and other neoplasms or malignant cancers of the jaw is the marked expansion of the facial skeleton in affected individuals, particularly young adults and children. Thus, it is essential for dentists and maxillofacial surgeons to thoroughly elicit the patient's family history when presented with clinical features of sudden jaw expansion and bone growth. Identifying the autosomal dominant inheritance pattern and variable phenotypic expression are key criteria for diagnosing this condition. Sporadic manifestations of irregular bone growth in certain segments of the upper or lower jaw in gigantiform cementoma have also been reported in the medical and dental literature.
What Are the Histological Characteristics of Familial Gigantiform Cementoma?
According to the 2005 World Health Organization classification of osseous dysplasias (OD), familial gigantiform cementoma is recognized as an odontogenic lesion originating from a disorder in the periodontal ligament of the teeth. Histologically, studies reveal a distinct pattern characterized by the proliferation of fibroblast tissue and the presence of predominant cementum-like deposits. The histological diagnosis of FGC is typically made by an oral pathologist who identifies fibroelastic tissue proliferation, variable cellularity, characteristic cemental deposits, and limited bone formation.
What Are the Radiographic Features of Familial Gigantiform Cementoma?
Radiographically, Gigantiform Cementoma lesions typically present as multiple, well-defined expansile areas in the jaw, as evident in X-ray and MRI (magnetic resonance imaging) images. These lesions often exhibit a mixed radiopaque and radiolucent appearance and frequently extend across the jaw's midline.
What Is the Pathogenesis of Familial Gigantiform Cementoma?
The pathogenesis of familial gigantiform cementoma is still not fully understood, but dental researchers propose three distinct growth phases. FGC lesions typically begin with an initial onset phase, followed by a rapid expansion phase within the jaws, and may then experience a sudden suppression of bone growth. Case reports have shown that these tumors often develop during the first two decades of life, followed by the second phase of rapid expansile growth in later years. In the fifth decade of life, if left untreated, growth may stagnate or become suppressed. In developed countries, most documented cases of FGC are promptly treated to restore both esthetic and functional aspects of the upper and lower jaws. Early clinical symptom recognition is advisable to prevent tumor enlargement.
What Is the Treatment for Familial Gigantiform Cementoma?
Surgical resection is the primary treatment strategy for FGC tumors. In some cases involving young adults, it has been observed that preoperative measurements of alkaline phosphatase enzyme levels show elevated values. However, following the surgical resection or elimination of the tumor, the enzyme activity levels significantly decrease. The primary goal of treating benign gigantiform cementoma tumors is to preserve the jaw structure while effectively eliminating the lesions. Additionally, the objectives include restoring normal jaw functions, such as chewing, swallowing, opening, and speech, to improve the patient's postoperative quality of life.
Maxillofacial surgeons should address any complications associated with the treatment to ensure a successful outcome. Managing familial gigantiform cementoma is not only challenging for diagnosis but also for oral surgeons due to the rapid bone expansion potential and increased recurrence rates with widespread involvement. It is strongly discouraged to leave any residual lesion after surgery, as incomplete removal can lead to recurrence. Therefore, extensive surgical resection is necessary in untreated cases to prevent recurrence. The ultimate treatment goal is to raise awareness and emphasize the importance of early diagnosis of FGC lesions to enhance patients' quality of life.
Conclusion
While familial gigantiform cementoma (FGC) is classified as a benign tumor, its potential for aggressive onset should not be underestimated. Timely intervention by dentists and maxillofacial surgeons is crucial, as FGC lesions can profoundly affect individuals in terms of both esthetics and jaw function. Early treatment remains paramount in ensuring a better quality of life for those affected.
