Hereditary disorders of collagen and elastic fibers

Abstract

Hereditary connective tissue diseases are a heterogeneous group of disorders in which mutations occur in genes coding for connective tissue proteins or for proteins involved in the synthesis of connective tissue proteins or influencing their homeostasis. As the connective tissue occurs ubiquitously in the body, the diseases result in a multitude of symptoms. The mutations often lead to changes in the biomechanical properties of the tissue, which can, for example, result in increased elasticity or altered resilience of the skin or increased fragility of skin, bones, or vessels.