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舌部多发性纤维脂肪瘤:一例通过C2CD3基因全外显子测序的儿科患者的罕见病例报告

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

作者信息

Alomari Fouad, Al Zayer Zahra H, Alferdous Hanaa Mohammad

机构信息

Department of Maxillofacial Surgery and Diagnostic Sciences, King Faisal Medical City, Abha, Saudi Arabia.

Dental Department Institute, Al-Ahsa Health Cluster, Ministry of Health, Abha, Saudi Arabia.

出版信息

Case Rep Dent. 2024 Dec 19;2024:5923373. doi: 10.1155/crid/5923373. eCollection 2024.

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.

摘要

舌部多发性纤维脂肪瘤是罕见的良性肿瘤,在成人和儿童中的患病率均为0.2%。此外,文献中尚未报道过该病变累及婴儿的情况。这是首例报道的婴儿舌部多发性纤维脂肪瘤病例。本病例报告描述了一名患有舌部多发性纤维脂肪瘤的1岁儿童的基因测序及治疗情况。患儿母亲在其出生时就发现其舌前部和侧缘有不规则肿物。患儿1岁时入院,在全身麻醉下对肿物进行了手术切除。手术过程顺利。通过全外显子组测序进行了基因测序,已鉴定出C2CD3基因的两个变异体,它们可能与该病症有关,尽管因果关系尚未得到证实。尽管这是口腔的一种罕见病症,但仍有多种鉴别诊断方法。因此,颌面外科医生应进行组织学诊断以确认诊断结果。这是文献中首次对婴儿舌部多发性纤维脂肪瘤进行基因测序的研究。因此,本报告的研究结果可用于进一步登记此类病例的研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/12e6/11671624/8e7179dc95f5/CRID2024-5923373.001.jpg

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