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Show Notes
Podcast # 366: Ehlers Danlos
Author: Gretchen Hinson, MD.
Educational Pearls:
- Heritable mutation in collagen synthesis and expression commonly resulting in joint hyperextension and skin elasticity.
- Vascular type can result in aneurysm formation and rupture in young patients.
- Patients are also at risk for spontaneous bowel rupture.
- Pregnant women can present with uterine rupture.
References
Byers PH, Murray ML (2012). "Heritable collagen disorders: the paradigm of Ehlers–Danlos syndrome". Journal of Investigative Dermatology. 132 (E1): E6–11.
Pepin MG, Byers PH. Ehlers-Danlos Syndrome Type IV. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
Yoneda, A., Okada, K., Okubo, H., Matsuo, M., Kishikawa, H., Naing, B. T., … Shimada, T. (2014). Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome. Case Reports in Gastroenterology, 8(2), 175–181. http://doi.org/10.1159/000363373