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

Abstract

The Ehlers-Danlos syndromes (EDS) 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. To systematically review the cutaneous features and adjunct investigations of EDS. 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. One-hundred-and-forty studies involved 839 EDS-patients. The EDS female-to-male ratio was 1.36:1(p<0.001). A high prevalence of skin hyperextensibility, bruising and soft skin were noted. Most vascular EDS patients 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. Retrospective study and small cases numbers for some EDS-subtypes. 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.