© 2013 Kosho, licensee InTech. This is an open access chapter distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos ...

Two cases of Ehlers-Danlos syndrome (EDS) diagnosed on the basis of their clinical presentation are presented. EDS is a rare genetic disorder involving connective tissue of skin and joints, having a variety of presenting signs and symptoms. There is no specific therapy for this disease but it is important to diagnose it as it may end up in fatal complications.

Death from arterial bleeding or gastrointestinal perforation has previously been reported in more than 15 patients with the Ehlers-Danlos syndrome. On a basis of 100 personally examined patients and a review of published accounts, these events seem particularly likely to occur in two distinct and recognizable forms (the gravis and the ecchymotic forms) of the syndrome.