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Genetic and Rare Diseases Information Center (GARD)

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Limited scleroderma


Other Names for this Disease

  • Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia syndrome
  • Calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia
  • CREST syndrome
  • Limited cutaneous systemic scleroderma
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Overview

CREST syndrome, also known as limited scleroderma, is a widespread connective tissue disease characterized by changes in the skin, blood vessels, skeletal muscles, and internal organs.[1][2] The symptoms involved in CREST syndrome are associated with the generalized form of the disease systemic sclerosis (scleroderma). CREST is an acronym for the clinical features that are seen in a patient with this disease.[3]

(C) - Calcinosis (KAL-sin-OH-sis): the formation of calcium deposits in the connective tissues, which can be detected by X ray. They are typically found on the fingers, hands, face, trunk, and on the skin above the elbows and knees. When the deposits break through the skin, painful ulcers can result.[1]

(R) - Raynaud's (ray-NOHZ) phenomenon: a condition in which the small blood vessels of the hands and/or feet contract in response to cold or anxiety. As the vessels contract, the hands or feet turn white and cold, then blue. As blood flow returns, they become red. Fingertip tissues may suffer damage, leading to ulcers, scars, or gangrene.[1]

(E) - Esophageal (eh-SOFF-uh-GEE-ul) dysfunction: impaired function of the esophagus (the tube connecting the throat and the stomach) that occurs when smooth muscles in the esophagus lose normal movement. In the upper esophagus, the result can be swallowing difficulties; in the lower esophagus, the problem can cause chronic heartburn or inflammation.[1]

(S) - Sclerodactyly (SKLER-oh-DAK-till-ee): thick and tight skin on the fingers, resulting from deposits of excess collagen within skin layers. The condition makes it harder to bend or straighten the fingers. The skin may also appear shiny and darkened, with hair loss.[1]

(T) - Telangiectasia (tel-AN-jee-ek-TAY-zee-uhs): small red spots on the hands and face that are caused by the swelling of tiny blood vessels. While not painful, these red spots can create cosmetic problems.[1]

It is not necessary to have all five symptoms of CREST syndrome to be diagnosed with the disease.[1] Some doctors believe only two of the five are necessary for a diagnosis.[2][3]

Last updated: 12/7/2011

References

  1. Scleroderma. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). 2010; http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp. Accessed 12/7/2011.
  2. Mayo Clinic Staff. Limited Scleroderma (CREST syndrome). MayoClinic.com. 2011; http://www.mayoclinic.com/health/crest-syndrome/DS00580. Accessed 12/7/2011.
  3. Makover ME. CREST syndrome. MedlinePlus. 2011; http://www.nlm.nih.gov/medlineplus/ency/imagepages/19507.htm. Accessed 12/7/2011.
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Basic Information

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.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Limited scleroderma. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia syndrome
  • Calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia
  • CREST syndrome
  • Limited cutaneous systemic scleroderma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.