Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology
Aude Beyens, Annekatrien Boel, Sofie Symoens, Bert Callewaert
Abstract
Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber assembly and homeostasis, and the known underlying gene defects affect different extracellular matrix proteins, intracellular trafficking, or cellular metabolism. Due to the underlying clinical and molecular heterogeneity, the diagnostic work-up of CL patients is often challenging. In this review, we provide a practical approach to the broad differential diagnosis of CL syndromes, provide an overview of the molecular pathogenesis of the different subtypes, and suggest general management guidelines.
Topics & Concepts
Cutis laxaExtracellular matrixPathophysiologyIntracellularPathogenesisDifferential diagnosisSecretionExtracellularMedicineBioinformaticsBiologyPathologyCell biologyInternal medicineConnective tissue disorders researchDermatological and Skeletal DisordersHypertrophic osteoarthropathy and related conditions