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Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology
Author(s) -
Beyens Aude,
Boel Annekatrien,
Symoens Sofie,
Callewaert Bert
Publication year - 2021
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.13865
Subject(s) - cutis laxa , extracellular matrix , intracellular , pathophysiology , pathogenesis , differential diagnosis , extracellular , secretion , biology , bioinformatics , medicine , pathology , microbiology and biotechnology , endocrinology
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.