Cutis Laxa

Excerpt

Cutis laxa, also known as elastolysis, encompasses a spectrum of rare connective tissue disorders characterized by loose or redundant skin, along with loss of elasticity and premature aging. Heritable forms of cutis laxa exhibit diverse transmission patterns and clinical presentations and are categorized into 3 main groups based on inheritance mode—autosomal dominant, autosomal recessive, and X-linked recessive. Acquired forms of cutis laxa are more common with a delayed onset and typically manifest later in life. Histopathological examination reveals affected tissues with sparse and fragmented elastic fibers, which are attributed to mutations causing abnormal proteins that disrupt the structure of elastic fibers in affected tissues. A comprehensive multistep diagnosis and treatment plan should be implemented for all individuals with cutis laxa.