Heterogenous group of defects of collage causing fragility and hyperelasticity of connective tissues and blood vessels
- Easy bruising
- Paper-thin scars
- Hypermobility of joints
- Weak aortic walls
- Weak gut walls
Types I, II and III – biochemical basis is unknown.
Type IV – involves arteries, the bowel and uterus and skin. Mutations in COL3A1 produce abnormalities in structure, synthesis or secretion of type III collagen.
Type VI – Results from mutation in gene that encodes lysyl hydroxylase
Type VII – Defect in the conversion of procollagen to collagen; COL1A1 and COL1A2 mutations delete the N-proteinase cleavage sites.
Spread – genetics
Autosomal dominant except type VI which is recessive