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Cutis Laxa

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Cutis Laxa is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Chalasodermia, Generalized
  • Chalazodermia, Generalized
  • Dermatochalasia, Generalized
  • Dermatolysis, Generalized
  • Dermatomegaly
  • Elastorrhexis, Generalized
  • Occipital Horn Syndrome

Disorder Subdivisions

  • Congenital Cutis Laxa Syndrome
  • Acquired Cutis Laxa Syndrome
  • Cutis Laxa , X-linked (formerly known as Ehlers Danlos IX)
  • Cutis Laxa, X-linked (formerly known as Ehlers Danlos IX)

General Discussion

Cutis laxa is rarely encountered and may occur in several inherited (congenital) forms or come about in the course of another disorder (acquired). It is a connective tissue disorder characterized by skin that is loose (lax), hanging, wrinkled, and lacking in elasticity (hyperelasticity). The affected areas of skin may be thickened and dark. In addition, the joints are loose (hypermobility) because of lax ligaments and tendons. The disorder involves a variety of symptoms and signs that result from defects in connective tissue. Defective connective tissue may cause problems in the vocal cords, bones, cartilage, blood vessels, bladder, kidney, digestive system, and lungs.



Four separate inherited forms of this disorder have been identified. Most cases are inherited as one or another of two types of autosomal recessive inheritance. However, cases of autosomal dominant inheritance have been reported, as well as a form that is credited to X-linked inheritance.

Resources

American Autoimmune Related Diseases Association, Inc.

22100 Gratiot Ave.

Eastpointe, MI 48021

Tel: (586)776-3900

Fax: (586)776-3903

Tel: (800)598-4668

Email: aarda@aarda.org

Internet: http://www.aarda.org/



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



Cutis Laxa Internationale

122 Clos des Ecoliers

Saint Cergues, 74140

France

Tel: 330456302188

Fax: 330456302188

Email: mcjlboiteux@aol.com

Internet: http://www.orpha.net/nestasso/cutislax



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



AutoImmunity Community

Email: moderator@autoimmunitycommunity.org

Internet: http://www.autoimmunitycommunity.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/19/2008

Copyright  1986, 1990, 1994, 2003, 2005 National Organization for Rare Disorders, Inc.

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