National Organization for Rare Disorders, Inc.

Cutis Laxa

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 Avenue
Eastpointe, MI 48021-2227
Tel: (586)776-3900
Fax: (586)776-3903
Tel: (800)598-4668
Email: aarda@aarda.org
Internet: http://www.aarda.org/

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

Cutis Laxa Internationale
35 Route Des Chaignes
Sainte Marie De Re, Intl 17740
France
Tel: 33 05 46 55 00 59
Email: MCJLBoiteux@aol.com
Internet: http://www.orpha.net/nestasso/cutislax

AutoImmunity Community

Tel: (919)-55-2-9057
Email: bandrews@autoimmunitycommunity.org
Internet: http://autoimmunitycommunity.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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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