Cutis laxa

Miski Mohamed, Michiel Voet, Thatjana Gardeitchik, Eva Morava

Research output: Chapter in Book/Report/Conference proceedingChapter

18 Scopus citations


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.

Original languageEnglish (US)
Title of host publicationProgress in Heritable Soft Connective Tissue Diseases
PublisherSpringer New York LLC
Number of pages24
ISBN (Print)9789400778924
StatePublished - 2014

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019


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

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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