The Complexity of Elastic Fiber Biogenesis: The Paradigm of Cutis Laxa

Abstract

Cutis laxa (CL) is a skin disorder characterized by prematurely redundant, pendulous, inelastic, and wrinkled skin (Berk et al., 2012), and is associated with variable involvement of other organs. Both acquired and inherited forms of CL exist and the latter show extensive locus heterogeneity and congenital onset. The main histopathologic and ultrastructural anomalies in the skin of patients with CL are paucity, fragmentation, or disorganization of the dermal elastic fibers (Figure 1a). Studies of inherited forms of CL have uncovered a growing network of genes (Table 1). On the basis of congenital nature of most inherited forms of CL, these genes are necessary for elastic fiber biogenesis and are distinct from genes involved in the homeostatic maintenance such as those inhibiting ectopic calcification of the elastic fibers (Li and Uitto, 2012).