Vascular Ehlers-Danlos syndrome with distinct histopathologic features
- 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 Hwang; Jin Woo Song; Se Jin Jang
- Issued Date
- 2022
- Type
- Article
- Keyword
- Pathology; Medicine; Ehlers–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
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Appears in Collections:
- Medicine > Nursing
- 공개 및 라이선스
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