Vascular Ehlers-Danlos syndrome with distinct histopathologic features.

Abstract

© 2021 The Korean Society of Pathologists/The Korean Society for Cytopathology This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/ by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. pISSN 2383-7837 eISSN 2383-7845 Ehlers-Danlos syndrome is a connective tissue disorders that presents with heterogeneous manifestations depending on the involved genes. Vascular Ehlers-Danlos syndrome (vEDS), also known as Ehlers-Danlos syndrome type IV, is caused by a heterozygous mutation in the COL3A1 gene that encodes the pro-α1 chains of type III collagen, which attenuates the structural integrity of type III collagen-enriched tissues, such as skin, lung, liver, intestine, and blood vessel. vEDS can result in fatal complications such as arterial or intestinal rupture, but its clinical diagnosis is often challenging. Here, we present a case of vEDS that was diagnosed based on histopathologic and confirmatory genetic examinations.