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儿童先天性外胚层发育不良-并指（趾）畸形-唇腭裂综合征伴外周性巨细胞肉芽肿 1 例报告

Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report.

机构信息

Faculty of Dental Sciences, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.

出版信息

BMC Oral Health. 2024 Aug 13;24(1):936. doi: 10.1186/s12903-024-04585-z.

DOI:10.1186/s12903-024-04585-z
PMID:39134968
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11321159/
Abstract

BACKGROUND

Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome mainly affects ectodermal and mesodermal tissues. It is usually manifested as split hands and feet, ectodermal dysplasia, and orofacial clefting, along with other signs and symptoms. A multidisciplinary approach to treatment is required, in which dentists play an important role in identifying and treating various oral conditions that may be genetically linked to or may be the result of EEC syndrome.

CASE PRESENTATION

The present case describes the oral condition of a young child suffering from EEC syndrome and presenting with peripheral giant cell granuloma (PGCG) in the mandibular anterior region. After obtaining a thorough medical and family history and a clinical examination, the lesion was surgically excised under local anesthesia. The patient was followed up at periodic intervals for the next twenty four months, during which no recurrence of the lesion was observed.

CONCLUSION

This report highlights the role of a dentist in the management of the oral conditions of patients suffering from EEC syndrome.

摘要

背景

并指（趾）-外胚层发育不全-唇腭裂（EEC）综合征主要影响外胚层和中胚层组织。它通常表现为分裂的手和脚、外胚层发育不良和唇腭裂，并伴有其他体征和症状。需要采用多学科方法进行治疗，其中牙医在识别和治疗各种可能与 EEC 综合征相关或可能由其引起的口腔状况方面发挥着重要作用。

病例介绍

本病例描述了一名患有 EEC 综合征的幼儿的口腔状况，其下颌前区患有外周性巨细胞肉芽肿（PGCG）。在获得详细的病史和家族史以及临床检查后，在局部麻醉下对病变进行了手术切除。在接下来的 24 个月中，患者定期接受随访，在此期间未观察到病变复发。

结论

本报告强调了牙医在管理患有 EEC 综合征的患者的口腔状况方面的作用。

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本文引用的文献

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Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.病例报告：一名患有唇裂和多囊肾的胎儿的缺指（趾）-外胚层发育不良-腭裂综合征（EEC）的产前诊断。
Front Genet. 2022 Oct 31;13:1002089. doi: 10.3389/fgene.2022.1002089. eCollection 2022.
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MOLECULAR GENETICS OF CLEFT LIP AND PALATE: A REVIEW.唇腭裂的分子遗传学：综述
Ann Ib Postgrad Med. 2020 Jun;18(1):S16-S21.
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A Comparative Analysis of p63 Expression in Giant Cell Tumour (GCT), Central Giant Cell Granuloma (CGCG) and Peripheral Giant Cell Granuloma (PGCG).
p63 表达在巨细胞瘤（GCT）、中央性骨巨细胞瘤（CGCG）和外周性骨巨细胞瘤（PGCG）中的对比分析。
Head Neck Pathol. 2020 Sep;14(3):733-741. doi: 10.1007/s12105-019-01118-x. Epub 2019 Dec 23.
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Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot).手足裂畸形（裂手/裂足）发病机制与治疗的见解
J Hand Surg Eur Vol. 2019 Jan;44(1):80-87. doi: 10.1177/1753193418807375. Epub 2018 Oct 31.
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Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.并指（趾）畸形、外胚层发育不良、唇腭裂（EEC 综合征）合并法洛四联症：非常罕见的组合。
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Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate.缺指（趾）畸形、外胚层发育不良和唇腭裂综合征
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