Oral and maxillofacial clinical features of Ehlers-Danlos syndrome: a systematic review.

IF 2 3区医学 Q2 DENTISTRY, ORAL SURGERY & MEDICINE

Oral Surgery Oral Medicine Oral Pathology Oral Radiology Pub Date : 2025-06-16 DOI:10.1016/j.oooo.2025.05.010

Antunes David, Nicot Romain, Bovis Marine, Ferri Joël

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引用次数: 0

Abstract

Background: Ehlers-Danlos syndromes (EDS) are inherited connective tissue disorders with diverse clinical manifestations, complicating subtype classification. While joint hypermobility, skin hyperextensibility, and tissue fragility are key diagnostic features, oral and maxillofacial signs are often overlooked.

Objective: This review compiles dental and maxillofacial manifestations in EDS patients and identifies subtype-specific features to assist diagnosis.

Study design: This systematic review followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and was registered on PROSPERO (CRD42023410501). Studies published from 1969 to March 2023 were screened. Eligible studies included original articles, case series, and case reports involving human subjects with any EDS subtype reporting dental or maxillofacial features.

Results: Subtype-specific maxillofacial features included nasal bridge depression in 80% of arthrochalasia EDS, downslanting palpebral fissures in 80% of kyphoscoliotic EDS, and deep-set eyes in 34% of classical EDS (cEDS). Oral anomalies comprised tooth agenesis in 50% of spondylodysplastic and 75% of dermatosparactic EDS cases. Dental malformations included pulpal calcifications (11/89 cEDS), root fusion (8/31 vascular EDS [vEDS]), and excessive root length (11/31 vEDS). Gingival hyperplasia was reported in 100% of dermatosparactic EDS cases. The absence of labial and/or lingual frenula remains debated.

Conclusions: This review underscores the diagnostic value of a thorough oral and maxillofacial examination in identifying EDS subtypes.

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ehers - danlos综合征的口腔颌面临床特征：系统综述。

背景：ehers - danlos综合征（EDS）是一种临床表现多样、亚型分型复杂的遗传性结缔组织疾病。虽然关节过度活动、皮肤过度伸展和组织脆弱是诊断的关键特征，但口腔和颌面体征往往被忽视。目的：本文综述EDS患者的口腔和颌面表现，并确定亚型特异性特征以辅助诊断。研究设计：本系统评价遵循系统评价和荟萃分析指南的首选报告项目，并在PROSPERO上注册（CRD42023410501）。对1969年至2023年3月发表的研究进行了筛选。符合条件的研究包括原始文章、病例系列和病例报告，涉及任何EDS亚型的人类受试者，报告了牙齿或颌面特征。结果：特定亚型的颌面特征包括80%的关节挛缩型EDS患者的鼻桥凹陷，80%的后凸型EDS患者的睑裂下斜，34%的经典型EDS患者的眼深。口腔异常包括50%的脊柱发育不良和75%的皮肤间隙性EDS病例的牙齿发育不全。牙畸形包括牙髓钙化（11/89）、牙根融合（8/31血管性EDS [vEDS]）和牙根过长（11/31 vEDS）。在皮肤间隙性EDS病例中，100%报告牙龈增生。唇和/或舌系带的缺失仍然存在争议。结论：本综述强调了彻底的口腔颌面检查在识别EDS亚型方面的诊断价值。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Oral Surgery Oral Medicine Oral Pathology Oral Radiology DENTISTRY, ORAL SURGERY & MEDICINE-

CiteScore

3.80

自引率

6.90%

发文量

1217

审稿时长

2-4 weeks

期刊介绍： Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology is required reading for anyone in the fields of oral surgery, oral medicine, oral pathology, oral radiology or advanced general practice dentistry. It is the only major dental journal that provides a practical and complete overview of the medical and surgical techniques of dental practice in four areas. Topics covered include such current issues as dental implants, treatment of HIV-infected patients, and evaluation and treatment of TMJ disorders. The official publication for nine societies, the Journal is recommended for initial purchase in the Brandon Hill study, Selected List of Books and Journals for the Small Medical Library.