Multiple Fibrolipomas of the Tongue: A Rare Case Report of a Pediatric Patient With Whole Exome Sequencing of the C2CD3 Gene.

IF 0.7 Q4 DENTISTRY, ORAL SURGERY & MEDICINE
Case Reports in Dentistry Pub Date : 2024-12-19 eCollection Date: 2024-01-01 DOI:10.1155/crid/5923373
Fouad Alomari, Zahra H Al Zayer, Hanaa Mohammad Alferdous
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引用次数: 0

Abstract

Multiple fibrolipomas of the tongue are rare benign tumors with a prevalence of 0.2% among both adults and children. Moreover, this lesion affecting an infant has not been reported in the literature. This is the first reported case of multiple fibrolipomas of the tongue in an infant. This case report describes the genetic sequencing and treatment of a 1-year-old child suffering from multiple fibrolipomas. Irregular growths on the anterior and lateral border of the tongue were reported by the mother of the child at the time of birth. The patient was presented to the hospital at the age of 1, and surgical excision of the lesions was performed under general anesthesia. The surgery was uneventful. Genetic sequencing was performed via whole exome sequencing, and two variants of the C2CD3 gene have been identified that may be associated with this condition, although causation has not yet been confirmed. Although this is a rare entity of the oral cavity, there are various differential diagnoses. Therefore, maxillofacial surgeons should perform histological diagnosis to confirm the findings. This is the first study in literature to understand the genetic sequencing of multiple fibrolipomas in an infant. Hence, the finding of this report can be utilized in further studies registering such cases.

舌多发性纤维脂肪瘤是一种罕见的良性肿瘤,在成人和儿童中的发病率均为 0.2%。此外,这种病变影响婴儿的情况在文献中也未见报道。这是首例报告的婴儿舌多发性纤维脂肪瘤病例。本病例报告描述了一名患有多发性纤维脂肪瘤的 1 岁儿童的基因测序和治疗情况。患儿的母亲在患儿出生时就报告说,患儿的舌头前部和外侧边界长有不规则的赘生物。患者 1 岁时到医院就诊,在全身麻醉下进行了病灶切除手术。手术很顺利。通过全外显子组测序进行了基因测序,发现 C2CD3 基因的两个变体可能与该病症有关,但其因果关系尚未得到证实。虽然这是一种罕见的口腔疾病,但有多种鉴别诊断。因此,颌面外科医生应进行组织学诊断,以确认研究结果。这是第一份了解婴儿多发性纤维脂肪瘤基因排序的文献研究。因此,本报告的发现可用于登记此类病例的进一步研究。
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来源期刊
Case Reports in Dentistry
Case Reports in Dentistry DENTISTRY, ORAL SURGERY & MEDICINE-
CiteScore
1.40
自引率
12.50%
发文量
107
审稿时长
14 weeks
期刊介绍: Case Reports in Dentistry is a peer-reviewed, Open Access journal that publishes case reports and case series in all areas of dentistry, including periodontal diseases, dental implants, oral pathology, as well as oral and maxillofacial surgery.
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