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 Avenue
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 Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 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/Health_Info

Cutis Laxa Internationale
122 Clos des Ecoliers
Saint Cergues, Intl 74140
France
Tel: 33 (0)4 56 30 21 88
Fax: 33 (0)4 56 30 21 88
Email: mcjlboiteux@aol.com
Internet: www.orpha.net/nestasso/cutislax

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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
Tel: (919) 552-9057
Email: bandrews@autoimmunitycommunity.org
Internet: http://autoimmunitycommunity.org

For a Complete Report

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

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