Ehlers-Danlos 综合征的皮肤表现和诊断评估：临床综述。

Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.

机构信息

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK; St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Department of Orthopedics, University of Pittsburgh Medical Center of Central PA, Pittsburgh, Pennsylvania.

出版信息

J Am Acad Dermatol. 2023 Sep;89(3):551-559. doi: 10.1016/j.jaad.2023.01.034. Epub 2023 Feb 8.

DOI:10.1016/j.jaad.2023.01.034

PMID:36764582

Abstract

BACKGROUND

The Ehlers-Danlos syndromes (EDSs) comprise a group of connective tissue disorders that manifest with skin hyperextensibility, easy bruising, joint hypermobility and fragility of skin, soft tissues, and some organs. A correct assessment of cutaneous features along with the use of adjunct technologies can improve diagnostic accuracy.

OBJECTIVES

To systematically review the cutaneous features and adjunct investigations of EDS.

METHODS

A search of PubMed and Web of Science for EDS-related cutaneous features and additional investigations was undertaken from publication of the 2017 International Classification of EDS until January 15, 2022.

RESULTS

One-hundred-and-forty studies involved 839 patients with EDS. The EDS female-to-male ratio was 1.36:1 (P < .001). A high prevalence of skin hyperextensibility, bruising, and soft skin were noted. Most patients with vascular Ehlers-Danlos syndrome showed venous visibility, skin fragility, and acrogeria. Classical EDS showed subcutaneous spheroids and molluscoid pseudotumours. In patients that underwent skin biopsies, only 30.3% and 71.4% showed features suggestive of EDS using light microscopy and transmission electron microscopy, respectively.

LIMITATIONS

Retrospective study and small cases numbers for some EDS-subtypes.

CONCLUSIONS

An accurate clinical diagnosis increases the chances of a molecular diagnosis, particularly for rarer EDS subtypes, whilst decreasing the need for genetic testing where there is a low clinical suspicion for a monogenic EDS-subtype.

摘要

背景

埃勒斯-当洛斯综合征（EDS）是一组结缔组织疾病，其特征为皮肤过度伸展、容易瘀伤、关节过度活动以及皮肤、软组织和某些器官脆弱。正确评估皮肤特征并使用辅助技术可以提高诊断准确性。

目的

系统综述 EDS 的皮肤特征和辅助检查。

方法

从 2017 年 EDS 国际分类的出版到 2022 年 1 月 15 日，在 PubMed 和 Web of Science 上搜索与 EDS 相关的皮肤特征和其他检查。

结果

有 140 项研究涉及 839 例 EDS 患者。EDS 的女性与男性比例为 1.36:1（P<.001）。皮肤过度伸展、瘀伤和皮肤柔软的发生率较高。大多数血管型埃勒斯-当洛斯综合征患者表现为静脉可见、皮肤脆弱和肢端肥大症。经典型 EDS 表现为皮下类球体和软体假肿瘤。接受皮肤活检的患者中，只有 30.3%和 71.4%分别在光镜和透射电镜下显示出 EDS 的特征。