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Review
. 2021:1348:273-309.
doi: 10.1007/978-3-030-80614-9_13.

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis

Aude Beyens  1 , Lore Pottie  2   3 , Patrick Sips  2   3 , Bert Callewaert  4
Affiliations
Review

Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis

Aude Beyens et al. Adv Exp Med Biol. 2021.

Erratum in

Abstract

Cutis laxa (CL) syndromes are a large and heterogeneous group of rare connective tissue disorders that share loose redundant skin as a hallmark clinical feature, which reflects dermal elastic fiber fragmentation. Both acquired and congenital-Mendelian- forms exist. Acquired forms are progressive and often preceded by inflammatory triggers in the skin, but may show systemic elastolysis. Mendelian forms are often pleiotropic in nature and classified upon systemic manifestations and mode of inheritance. Though impaired elastogenesis is a common denominator in all Mendelian forms of CL, the underlying gene defects are diverse and affect structural components of the elastic fiber or impair metabolic pathways interfering with cellular trafficking, proline synthesis, or mitochondrial functioning. In this chapter we provide a detailed overview of the clinical and molecular characteristics of the different cutis laxa types and review the latest insights on elastic fiber assembly and homeostasis from both human and animal studies.

Keywords: ALDH18A1; ARCL type 1 (ARCL1); ARCL type 2 (ARCL2); ARCL type 3 (ARCL3); ATP6V0A2; ATP6V1A; ATP6V1E1; Cutis Laxa; De Barsy syndrome (DBS); Debré-type; ELN; Elastic Fiber; Extracellular matrix; FBLN4; FBLN5; Glycosylation; Krebs cycle; LTBP4; PYCR1; Proline synthesis; SLC2A10; Urban-Rifkin-Davis syndrome.

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