CUTIS LAXA SYNDROME

Abstract

Cutis Laxa (CL) is a rare, clinically and genetically heterogeneous disorder of elastic tissue characterised by loose, redundant, inelastic skin, and is broadly classified into inherited and acquired forms. Inherited CL includes autosomal dominant (ADCL), autosomal recessive (ARCL types 1, 2A, 2B, 3), and X-linked (occipital horn syndrome) subtypes, arising from mutations in genes such as ELN, FBLN5, EFEMP2, LTBP4, ATP6V0A2, PYCR1, and ATP7A, each producing distinct systemic risks including cardiovascular, pulmonary, skeletal, and neurodevelopmental involvement. Acquired CL typically presents in adulthood following inflammatory dermatoses, infections, or hypersensitivity reactions, and has been linked to plasma cell dyscrasias and autoimmune vasculitis. Diagnosis integrates clinical examination, family history, histopathological assessment of dermal elastic fibers, and increasingly, targeted molecular genetic testing, alongside protein electrophoresis and autoimmune screening in acquired cases. Clinically, CL manifests as characteristic facial and cutaneous laxity with variable systemic complications that determine morbidity and mortality. No curative therapy currently exists; management remains supportive and multidisciplinary, combining dermatological care, physical therapy, subtype-specific systemic surveillance, and reconstructive surgery, though surgical outcomes are frequently limited by recurrence, particularly in acquired disease. This review highlights persistent gaps in understanding acquired CL triggers and underscores the need for international registries and therapies targeting elastin synthesis and degradation.