Cutis laxa

Cutis laxa is a heterogeneous group of rare connective tissue disorders characterized by loose, redundant, and inelastic skin that hangs in folds, giving an aged appearance. The condition results from defects in elastic fiber formation, assembly, or maintenance. Cutis laxa can be inherited or acquired, and the inherited forms include autosomal dominant cutis laxa (ADCL), autosomal recessive cutis laxa (ARCL types 1, 2, and 3), and X-linked cutis laxa (also known as occipital horn syndrome). The disease affects multiple body systems beyond the skin, including the lungs (emphysema), cardiovascular system (aortic aneurysms, arterial tortuosity), gastrointestinal tract (diverticulae, hernias), and urogenital system (bladder diverticula). Skeletal abnormalities, developmental delay, and growth retardation may also occur, particularly in the autosomal recessive forms. The severity varies considerably depending on the genetic subtype. Autosomal dominant cutis laxa, often caused by mutations in the ELN (elastin) gene, tends to be milder with primarily cutaneous and pulmonary involvement. Autosomal recessive forms, associated with mutations in genes such as FBLN5, FBLN4 (EFEMP2), LTBP4, ATP6V0A2, PYCR1, ATP6V1E1, and others, are generally more severe and can be life-threatening in infancy due to cardiopulmonary complications. X-linked cutis laxa, caused by mutations in ATP7A, involves copper metabolism abnormalities and features skeletal anomalies including occipital exostoses. There is currently no cure for cutis laxa. Treatment is supportive and multidisciplinary, focusing on managing complications in affected organ systems. Surgical repair may be considered for hernias, and plastic surgery can address cosmetically significant skin laxity, although results may be temporary. Pulmonary and cardiovascular monitoring is essential. Genetic counseling is recommended for affected families to clarify the specific subtype and recurrence risk.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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