Familial Expression of Spontaneous Cervical Artery Dissections and Ehlers-Danlos Syndrome Hypermobile Type
| Author | Trinh Hermanns-Le | en |
| Author | Daniel Manicourt | en |
| Author | Gerald E. Pierard | en |
| Issued Date | 2014-12-01 | en |
| Abstract | Introduction: Spontaneous cervical artery dissection (SCAD) and Ehlers-Danlos syndrome hypermobile type (EDSH) represent two heritable clinical connective tissue disorders, which show some abnormal ultrastructural features in the dermis. Genetic testing for most of those patients is not available at this time. Case Presentation: We present a woman with SCAD and her five close relatives showing obvious or suggestive signs of EDSH. In this family, the ultrastructural aspects of both diseases were closely related. Conclusions: Alterations were present in both the aspect and spacing of collagen fibrils and in the shape of elastic fibers. The present familial combination of SCAD and EDSH, with almost similar ultrastructural features suggests a possible connection between both conditions. | en |
| DOI | https://doi.org/10.17795/jssc27023 | en |
| Keyword | Skin | en |
| Keyword | Collagen | en |
| Keyword | Tissues | en |
| Keyword | Blood Vessels | en |
| Keyword | Microscopy | en |
| Keyword | Electron | en |
| Publisher | Brieflands | en |
| Title | Familial Expression of Spontaneous Cervical Artery Dissections and Ehlers-Danlos Syndrome Hypermobile Type | en |
| Type | Case Report | en |
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