Snapshot An 8-year-old boy is brought to his pediatrician for developing multiple bruises over the course of the school year. The patient's mother believes the child is being bullied at school. The patient is otherwise healthy. Family history is significant for his father expiring at 38 yearas of age due to a severe subarachnoid hemorrhage. On physical exam, there are ecchymoses and hematomas over the shins and knees. The skin also appears fragile and thin, which demonstrates a venous pattern in the extremities. The child undergoes genetic testing to confirm the diagnosis. Introduction Clinical definition comprises a group of connective tissue disorder involving collagen synthesis and structure that affects the skin joints blood vessels organs Epidemiology incidence relatively rare hypermobility Ehlers-Danlos syndrome (EDS) is the most common type Etiology caused by genetic alterations that affect collagen synthesis and processing genetics autosomal dominant or recessive can also be acquired via a new spontaneous mutation examples include classic EDS autosomal dominant type V collagen mutation in COL5A1 COL5A2 vascular EDS autosomal dominant type III procollagen mutation in COL3A1 Pathogenesis normal biology collagen plays an important role in the tissue structure in a number of organs such as skin tendons skeleton eyes vasculature ligaments tissues that use collagen become altered leading to a number of clinical consequences such as hypermobility skin hyperextensibility tissue fragility vascular abnormalities (e.g., saccular berry aneurysms) Presentation Symptoms/Physical exam skin hyperextensibility joint hypermobility easy bruising mitral valve prolapse Studies Making the diagnosis clinically suspected with clinical presentation and family history genetic or biochemical testing confirms the diagnosis Differential Marfan syndrome Osteogenesis imperfecta Treatment Management approach managed via a multidisciplinary approach e.g., physical therapy for hypotonia and hypermobility Complications Vascular EDS hollow organ rupture arterial dissection arterial and aneurysm rupture obstetric complications such as uterine rupture and hemorrhage rectal tearing Valvular involvement may require cardiac valve replacement