Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

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Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.

Easy bruising and bleeding are not only characteristic manifestations of clotting and platelet disorders, they are also prominent features in some heritable collagen disorders, such as the Ehlers-Danlos syndromes (EDS). The EDS comprise a heterogeneous group of connective tissue diseases sharing clinical manifestations in skin, ligaments and joints, blood vessels and internal organs. Most EDS s...

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Mast cell disorders in Ehlers-Danlos syndrome.

Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironm...

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Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome.

Tenascin-X is an extracellular matrix protein initially identified because the gene encoding it overlaps with the human CYP21B gene. Because studies of gene and protein function of other tenascins had been poorly predictive of essential functions in vivo, we used a genetic approach that critically relied on an understanding of the genomic locus to uncover an association between inactivating ten...

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Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.

Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis ...

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ژورنال

عنوان ژورنال: British Journal of Haematology

سال: 2004

ISSN: 0007-1048

DOI: 10.1111/j.1365-2141.2004.05220.x