Cutis Laxa

  • Miski MohamedEmail author
  • Michiel Voet
  • Thatjana Gardeitchik
  • Eva Morava
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 802)


Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of extracellular matrix proteins occurs due to genetic defects coding for diverse extracellular matrix components. Recently, different inborn errors of metabolism have been found to be associated with cutis laxa as well. In some of these metabolic conditions the pathomechanism of cutis laxa remains unknown. Cutis laxa can be inherited in an autosomal dominant, autosomal recessive and X-linked recessive inheritance pattern. Besides the skin abnormalities, in most inherited forms multiple organ systems are involved, leading to a severe, in some forms even lethal, multisystem disorder. To date no effective treatment is available for cutis laxa. This chapter focuses on inherited forms of cutis laxa, offering a practical guideline for clinicians, biochemist and geneticist to diagnose and differentiate between the different forms of cutis laxa, and providing a concise theoretical reference.


Autosomal recessive cutis laxa (ARCL) ARCL type 1A (ARCL1A; MIM 219100) FBLN5 (MIM 604580) ARCL type 1B (ARCL1B; MIM 614437) EFEMP2 or FBLN4 (MIM 604633) ARCL1C Urban-Rifkin-Davis Syndrome (URDS; MIM 613177) LTBP4 (MIM 604710) ARCL type 2 Debré-type cutis laxa (ARCL2A; MIM 219200) 


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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Miski Mohamed
    • 1
    Email author
  • Michiel Voet
    • 1
  • Thatjana Gardeitchik
    • 1
  • Eva Morava
    • 1
    • 2
  1. 1.Radboud University Nijmegen Medical Center, IGMDNijmegenThe Netherlands
  2. 2.Tulane University Medical Health Center, Hayward Genetics CenterNew OrleansUSA

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