Multiple vascular and bowel ruptures in an adolescent male with sporadic Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome (EDS) type TV is a heritable disorder resulting from mutations in the COL3A1 gene that cause deficient production of type III c ollagen. Clinical manifestations of EDS type IV include hypermobility of sm all joints, excessive bruisability, thin translucent skin, poor wound heali ng, bowel rupture, and vascular rupture that is often fatal. A 14-year-old male without a family history of EDS died following multiple bowel and abdo minal blood vessel ruptures. Even in areas apart from rupture sites, the bo wel wall was thin because of diminished submucosa and muscularis propria. S imilarly, the walls of blood vessels in bowel submucosa and elsewhere in th e abdomen varied in thickness, and contained frayed and fragmented elastic tissue fibers. Fibroblasts cultured from the patient's skin secreted reduce d quantities of type III collagen that was explained by a point mutation in one copy of the COL3A1 gene. EDS type IV should be strongly suspected in a ny patient with otherwise unexplainable bowel and/or vessel rupture.