Ehlers-Danlos syndrome (EDS) is a group of well described connective tissue disorders in which collagen production is impaired. The surgical management of affected individuals remains challenging, with no general consensus. We report a case of spontaneous sigmoid perforation in a 17-year-old Eurasian male, in whom we subsequently established the diagnosis of EDS type IV (EDS-IV). We review the ...

A 38-yr-old man with an unusual type of Ehlers-Danlos syndrome presented for elective abdominal aortic aneurysm repair. During surgery he developed acute myocardial ischaemia, resulting in abandonment of the procedure. He was shown subsequently to have severe triple vessel coronary artery disease. Silent ischaemia associated with severe coronary artery disease, although rare, may be associated ...

Twenty three patients with fragile X syndrome underwent cardiovascular assessment. Echocardiography showed dilatation of the aortic root in 12 (52%) and mitral valve prolapse in five (22%), four of whom had an apical mid-systolic click on auscultation. Patients with fragile X syndrome have cardiac defects similar to those seen in other disorders of connective tissue such as Marfan's syndrome an...

The authors took skin biopsies of the macroscopically normal skin of seven consecutive patients with spontaneous cervical artery dissection (SCAD). Histologically, alterations of the collagen and elastic fiber networks were found in six patients. In five, the histologic, immunohistochemical, and ultrastructural changes were similar to those usually found in Ehlers-Danlos syndrome (EDS). This su...

Pellagra is a nutritional disorder secondary to niacin deficiency. The classical triad is dermatitis, diarrhea, and dementia. We report the case of a young girl with hypermobility-type Ehlers-Danlos syndrome who exhibited the classical pellagra symptoms, despite apparent adequate nutritional intake. Her condition resolved after oral niacin supplements were administered. Although this associatio...

The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferen...

Chronic or recurrent musculoskeletal pain is a common complaint in children. Among the most common causes for this problem are different conditions associated with hypermobility. Pediatricians and allied professionals should be well aware of the characteristics of the different syndromes associated with hypermobility and facilitate early recognition and appropriate management. In this review we...

Q1: There was extensive cystic bullous involvement of lungs in both the cases, what could be the possible diagnosis? In the first case a diagnosis of cutis laxa—that is, Ehlers-Danlos syndrome—was made in view of elastic skin, past history of being operated for bilateral inguinal hernia, aphakic eyes, and presence of mitral valve prolapse. In the second case the diagnosis of Marfan’s syndrome w...

Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome. These changes were later confirmed on angiography, which also showed peripheral vascular abnormalities. The electrocardiogram showed a probable hemiblock of the left antero...

We report two patients who presented with extensive aneurysmal disease, in association with minimal external physical signs. Patient 1 remained genetically undiagnosed despite multiple structural, biochemical and genetic investigations. He made a good recovery following surgery for popliteal and left axillary artery aneurysms. Patient 2 was diagnosed with vascular type Ehlers-Danlos syndrome, a...