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Vascular Ehlers-Danlos syndrome with distinct histopathologic features

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Abstract
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.
Author(s)
Hee Sang HwangJin Woo SongSe Jin Jang
Issued Date
2022
Type
Article
Keyword
PathologyMedicineEhlers–Danlos syndrome
DOI
10.4132/jptm.2021.03.24
URI
https://oak.ulsan.ac.kr/handle/2021.oak/13473
Publisher
Journal of Pathology and Translational Medicine
Language
영어
ISSN
2383-7837
Citation Volume
56
Citation Number
3
Citation Start Page
167
Citation End Page
169
Appears in Collections:
Medicine > Nursing
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