Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.

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.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Beyens A,Boel A,Symoens S,Callewaert B

doi

10.1111/cge.13865

subject

Has Abstract

pub_date

2021-01-01 00:00:00

pages

53-66

issue

1

eissn

0009-9163

issn

1399-0004

journal_volume

99

pub_type

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