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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Generalized elastolysis
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Overview


Cutis laxa is a connective tissue disorder characterized by skin that is sagging and not stretchy. The skin often hangs in loose folds, causing the face and other parts of the body to have a droopy appearance. Cutis laxa can also affect connective tissue in other parts of the body, including the heart, blood vessels, joints, intestines, and lungs. Depending on which organs and tissues are affected, the signs and symptoms can range from mild to life-threatening.[1]
 
There are several different forms of cutis laxa, which are distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. In general, the autosomal recessive forms tend to be more severe than the autosomal dominant form. The X-linked form of cutis laxa is often called occipital horn syndrome.[1] Click on the links below to view information about the different types of cutis laxa.

Cutis laxa, autosomal dominant
Cutis laxa, autosomal recessive type 1
Cutis laxa, autosomal recessive type 2A
Cutis laxa, autosomal recessive type 2B
Occipital horn syndrome
Last updated: 6/16/2011

References

  1. Cutis laxa. Genetics Home Reference. June 2009; http://ghr.nlm.nih.gov/condition/cutis-laxa. Accessed 6/16/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Cutis laxa. We will answer your question and update these pages with new resources and information.

Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Cutis laxa. This website is maintained by the National Library of Medicine.
  • The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cutis laxa. Click on the link to view a sample search on this topic.