Abstract
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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.