The following is a summary of “Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review,” published in the SEPTEMBER 2023 issue of Dermatology by Doolan, et al.
Ehlers-Danlos syndromes (EDSs) are a group of connective tissue disorders characterized by skin hyperextensibility, easy bruising, joint hypermobility, and the fragility of various body tissues. To improve diagnostic accuracy, assessing cutaneous (skin-related) features and employing adjunct diagnostic methods to evaluate EDS was crucial. For a study, researchers sought to systematically review the cutaneous features and additional diagnostic investigations related to EDS.
A comprehensive search of scientific databases was conducted to gather information on cutaneous features and supplementary diagnostic assessments for EDS. The search covered the period from the 2017 International Classification of EDS publication to January 15, 2022.
A total of 140 studies involving 839 EDS patients were included. It was observed that EDS occurred more frequently in females, with a female-to-male ratio of 1.36:1. Common cutaneous features included skin hyperextensibility, easy bruising, and skin fragility. In vascular EDS, patients often exhibited visible veins, skin fragility, and acrogeria. Classical EDS presented with subcutaneous spheroids and molluscoid pseudotumors. For patients who underwent skin biopsies, only 30.3% and 71.4% showed features indicative of EDS under light microscopy and transmission electron microscopy, respectively. The study has some limitations, including its retrospective nature and the relatively small number of cases for specific EDS subtypes.
An accurate clinical diagnosis enhanced the likelihood of obtaining a molecular diagnosis, especially for rarer EDS subtypes. The approach reduced the need for genetic testing in cases with a low clinical suspicion of a monogenic EDS subtype.