Management strategy in patient with familial gigantiform cementoma

Abstract

Rationale:Familial gigantiform cementoma (FGC) is a rare benign autosomal dominant fibrocemento-osseous lesion generally limited to the facial bones, typically in the anterior portion of the mandible; it is often associated with abnormalities of the long bones and prepubertal pathologic fractures. Owing to the small number of such patients, a uniform treatment criterion has not been established. This paper presents a patient with FGC who was treated in our department, and offers a systematic review of the patients reported in the literature. Our aim was to explore the treatment strategy for patients with FGC.Patient concerns:Our patient, a 13-year-old boy, presented with a painless enlargement of the mandible first noted 2 years earlier. It had grown rapidly over the preceding 8 months, affecting both his appearance and ability to chew.Diagnosis:Based on the pathologic, clinical, and radiographic features, FGC was diagnosed.Interventions:Mandibuloectomy was performed. The mandibular defect was immediately reconstructed with his right vascularized iliac crest flap. At the same time, a PubMed search was conducted to identify studies reporting on other patients with FGC.Outcomes:A 3-dimensional computed tomography (3D-CT) scan demonstrated appropriate height of the new alveolar bone. Follow-up results showed recovery of the patient's appearance and mandibular function. He was free of recurrence at 4-year follow-up.Lessons:FGC is a rare benign fibrocemento-osseous lesion of the jaws that can cause severe facial deformity. Incomplete removal leads to more rapid growth of the residual lesion. Therefore, extensive resection is a suitable strategy to avoid recurrence. Defects of the facial bones found intraoperatively should be repaired with resort to an appropriate donor site. However, it is important to be aware that patients with FGC always have concomitant abnormalities of skeletal metabolism and structure, as well as a vulnerability to fractures of the long bones of the lower extremity. Therefore, the optimal management strategy should include a review of treatment options for other patients as reported in the literature. An optimal protocol can not only provide sufficient high-quality bone suitable for the reconstruction of bone defects, but also minimize complications and maximize quality of life.

Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review

“…The age of onset ranges from 1 to 38 years, and it is most common during adolescence, followed by early childhood (Prasad et al, 2022; Şakar et al, 2015; Shah et al, 2012; Wang et al, 2015), with no sex tendency. Owing to its nature, the recurrence rate of FGC is high, and incomplete resection or conservative curettage often leads to more rapid progression of the remaining portion, which does not recur after complete resection (Wang et al, 2017). In the present study, the three cases were consistent with FGC in terms of age, the severity of jaw expansion, site of onset, concomitant symptoms, treatment strategy, and recurrence, with no other bones affected.…”

Cementoblastoma: An unusual radiographic presentation

“…It usually involves younger population and is asymptomatic until causes facial asymmetry, enlargement etc. Radiographical finding shows typical "ground-glass" appearance and the absence of lamina dura [23,24]. Histologically, cementoblastoma is composed of broad trabeculae of sparsely cellular cementum merged with areas of cemental islands in vascular stroma.…”

Características clínicas e imagenológicas del cementoma gigantiforme familiar. Una revisión de la literatura

“…Existen artículos que mencionan las fracturas en extremidades inferiores en pacientes con CGF 1 , 2 , 4 , 11 . Uno de los primeros estudios describió un caso heredado que afectó a cuatro generaciones, y la primera familia diagnosticada con CGF estuvo en China, con un total de 13 portadores.…”

“…El cementoma gigantiforme familiar (CGF) es una lesión fibro-ósea benigna poco común, que sigue un patrón de herencia autosómico dominante ( [1][2][3] ). Se ha visto en familias de distintas partes del mundo, como Italia, Estados Unidos, Corea y Filipinas, y predomina en pacientes de raza negra, blanca y de Asia oriental ( 2,4 ).…”