Results 31 to 40 of about 1,915,528 (208)

Elastosis perforans serpiginosa related to vascular Ehlers-Danlos syndrome [PDF]

, 2019
Elastosis perforans serpiginosa (EPS) is a rare skin disease with elimination of connective tissue fibers from dermis to epidermis. The typical presentation shows hyperkeratotic red or skin-colored papules arranged in a circinate pattern. We present a 26-
Uldall Pallesen, Kristine Appel, Lindahl, Kim Hein, Bygum, Anette; id_orcid   +2 more
core   +5 more sources

Vascular complications in Ehlers-Danlos syndrome type IV — case report [PDF]

, 2015
Ehlers-Danlos syndrome is the most common inherited connective tissue disease and is a consequence of abnormal collagen synthesis. Type IV of this syndrome, called vascular, is considered to be the most severe.
Jedrasik, Maciej; Department of General, Vascular and Transplant Surgery, Medical University of Warsaw, Feiz Allah Poor, Hamid; Department of General, Vascular and Transplant Surgery, Medical University of Warsaw, Grygiel, Katarzyna; Department of General, Vascular and Transplant Surgery, Medical University of Warsaw, Poland, Szmidt, Jacek; Department of General, Vascular and Transplant Surgery, Medical University of Warsaw, Nazarewski, Slawomir; Department of General, Vascular and Transplant Surgery, Medical University of Warsaw   +4 more
core   +1 more source

Cardiovascular manifestations of type IV Ehlers-Danlos syndrome – A case report

Revista Portuguesa de Cardiologia, 2022
Type IV Ehlers-Danlos syndrome (vascular) is a rare connective tissue disease caused by COL3A1 gene mutation on type III collagen. Clinical presentation is related to vascular fragility and risk of rupture of the arterial wall.
Tiago Sepúlveda Santos, Rita Marçal, Oana Moldovan, Leonor Carvalho, José Luís Ducla-Soares   +4 more
doaj   +1 more source

Aortic dissection in a patient with novel frameshift COL5A1 variant of classical Ehlers-Danlos syndrome

European Journal of Case Reports in Internal Medicine, 2023
Classical Ehlers-Danlos syndrome (cEDS) is one of the 13 subtypes of Ehlers-Danlos syndrome, which has the major clinical criteria of hyperextensibility skin, atrophic scars, and generalised joint hypermobility.
Lídia Caley, Ana Campar, Teresa Mendonça, Fátima Farinha   +3 more
doaj   +1 more source

The Vascular Type of Ehlers-Danlos Syndrome

Journal of Nippon Medical School, 2008
Vascular type of Ehlers-Danlos syndrome (EDS), also known as EDS type IV (NIM#130050) is a life-threatening autosomal dominant inherited disorder of connective tissue, caused by mutations of the COL3A1 gene. Vascular EDS causes severe fragility of connective tissues with arterial and intestinal ruptures and complications of surgical and radiological ...
Watanabe, Atsushi, Shimada, Takashi
openaire   +3 more sources

Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome.

PLoS Genetics, 2022
Vascular Ehlers-Danlos syndrome is a rare inherited disorder caused by genetic variants in type III collagen. Its prognosis is especially hampered by unpredictable arterial ruptures and there is no therapeutic consensus.
Anne Legrand, Charline Guery, Julie Faugeroux, Erika Fontaine, Carole Beugnon, Amélie Gianfermi, Irmine Loisel-Ferreira, Marie-Christine Verpont, Salma Adham, Tristan Mirault, Juliette Hadchouel, Xavier Jeunemaitre   +11 more
doaj   +1 more source

Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report [PDF]

, 2016
The vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of
M. Seia, Alessandra Bassotti, Angela Cecilia Pesatori, A. Bassotti, F. Cortini, Francesca Cortini, Barbara Marinelli, A.C. Pesatori, B. De Giorgio, Manuela Seia, B. Marinelli, N. Montano, Barbara De Giorgio, Nicola Montano   +13 more
core   +2 more sources

Familial hepatic rupture in vascular Ehlers–Danlos syndrome in pregnancy with atypical thromboses

JRSM Open, 2023
Lesson This case highlights the importance of genetic testing over fibroblast testing and presents the first published thromboelastometry data in vascular Ehlers–Danlos syndrome.
Jesal Patel, Cai Neville, Raj Kumar, Elisabeth Grey-Davies, Renata Hutt, Fleur S. van Dijk, Li Yuan Chan, Edward Walter   +7 more
doaj   +1 more source

A unique collaborative model providing supportive and self-advocacy tools to the rare disease community

Rare
The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS.
Juliette M. Harris, Jacqui Fish, Jared Griffin, Gemma Hasnaoui, Clare Stacey, Neeti Ghali, Fleur S. van Dijk   +6 more
doaj   +1 more source

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

Journal of Medical Case Reports, 2013
Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen.
Kashizaki Fumihiro, Hatamochi Atsushi, Kamiya Kazunori, Yoshizu Akira, Okamoto Hiroaki   +4 more
doaj   +1 more source