An Unusual Case of Ehlers-Danlos Syndrome Presenting as Proptosis.
caroticocavernous fistula
joint hypermobility
proptosis
skin hyperelasticity
vascular ehlers danlos syndrome
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Jul 2023
Jul 2023
Historique:
accepted:
11
07
2023
medline:
14
8
2023
pubmed:
14
8
2023
entrez:
14
8
2023
Statut:
epublish
Résumé
Ehlers-Danlos syndrome (EDS) is a rare, heterogeneous group of genetic connective tissue disorders that affect collagen proteins. Currently, they are classified into 13 subtypes, many of which share general characteristics such as thin, hyperextensible skin and joint hypermobility. Vascular Ehlers-Danlos syndrome (vEDS) is characterized by tissue fragility, which predisposes individuals to premature arterial, uterine, or intestinal rupture. In this case, a young female presented with proptosis, skin hyperelasticity, and multiple joint dislocations. On computed tomography angiography (CTA), a direct caroticocavernous fistula, along with multiple segments of narrowing and ectasia in the internal carotid arteries and vertebral arteries, were detected, leading to a diagnosis of vEDS. This case report highlights the importance of clinical evaluation and the role of imaging in detecting this rare condition.
Identifiants
pubmed: 37575854
doi: 10.7759/cureus.41715
pmc: PMC10414772
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e41715Informations de copyright
Copyright © 2023, Khaladkar et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
Références
Surg Neurol. 1996 Sep;46(3):247-52
pubmed: 8781594
Cardiol Rev. 2012 Jan-Feb;20(1):4-7
pubmed: 22143279
Circulation. 2004 Mar 30;109(12):1530-5
pubmed: 15007000
Interv Neuroradiol. 2006 Mar 15;12(1):45-51
pubmed: 20569551
Orphanet J Rare Dis. 2018 Jun 25;13(1):100
pubmed: 29940997
Am J Med Genet. 1998 Apr 28;77(1):31-7
pubmed: 9557891
Neurosurgery. 1994 Apr;34(4):620-6; discussion 626-7
pubmed: 8008158
J Biol Chem. 1988 May 5;263(13):6226-32
pubmed: 2834369
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):5-7
pubmed: 28306227
Ann Genet. 2004 Jan-Mar;47(1):1-9
pubmed: 15127738