Cutis Laxa

Excerpt

Cutis laxa (CL) is a group of rare diseases of connective tissue characterized by redundant skin with loss of elasticity and premature aging. Heritable forms have variable transmissions and clinical expressions. Three major groups are individualized based on the mode of inheritance: autosomal dominant CL, autosomal recessive CL, and X-linked recessive CL. Acquired forms are more frequent and characterized by a later onset. The histopathologic findings include sparse and fragmented elastic fibers. In all cases, mutations lead to abnormal proteins that disrupt the architecture of elastic fibers.