Limited Scleroderma (CREST Syndrome)

Overview

By Tina Shahian, PhD

Limited scleroderma (also known as CREST syndrome) is a type of scleroderma, which as the name implies is characterized by thick, hardened skin. In the more severe form, this connective tissue disorder can affect the function of internal organs (e.g., esophagus, heart, lungs, gastrointestinal tract, muscle and joints) and even become life threatening. Limited scleroderma is milder form of the disease and affects roughly 50% of scleroderma patients. It is often referred to as CREST syndrome, with each letter representing one of five common features (see Symptoms) of the illness:

  • calcinosis in a patient with CREST syndromeCalcinosis
  • Raynaud phenomenon (also called Raynaud’s phenomenon or Raynaud’s disease)
  • Esophageal dysfunction
  • Sclerodactyly
  • Telangiectasia

The skin hardening associated with limited scleroderma is typically confined to the fingers, hands, lower arms, legs and face. Unlike its more severe form, progression is more gradual and complications involving internal organs are less common. Limited scleroderma can affect the digestive tract, causing difficulty swallowing and frequent heartburn. It can also affect the blood vessels, heart and lungs, leading to hypertension and shortness of breath. There is no cure for scleroderma; treatment is aimed at managing the symptoms.

Causes and Risk Factors

The exact cause of limited scleroderma is not known. Scleroderma is believed to be an autoimmune disease, where the body launches an attack against its own organs. In this case, the immune response seems to prompt the body to overproduce collagen, which is deposited in the skin and other organs, altering their function. The risk factors for limited scleroderma are:

  • Gender: Women are four times more likely to develop limited scleroderma.
  • Age: Limited scleroderma is more common in adults and typically starts between the age of 22 and 55.
  • Race: African Americans are at higher risk of developing limited scleroderma in the United States.
  • Genetics: A family history of autoimmune disease, such as rheumatoid arthritis or Hashimoto's disease, is tied to an increased risk of limited scleroderma.
  • Toxins: Exposure to certain toxins (e.g., polyvinyl chloride, benzene, silica and trichloroethylene) may trigger limited scleroderma in some people.

Symptoms

The symptoms of limited scleroderma develop gradually over several years and include:

  • Hardened skin (sclerodactyly – the “S” in CREST syndrome): The skin of the fingers, hands, lower arms, legs and face becomes tight, hardened and shiny in appearance. The change in skin condition may limit motion and movement of the fingers and mouth.
  • Raynaud's phenomenon (the “R” in CREST syndrome): A condition of poor blood circulation that causes the toes and fingertips to turn white, and then blue and numb. When circulation returns to normal, the affected skin looks red and may tingle. Raynaud's phenomenon is an early symptom of limited scleroderma, but it can also occur independent of scleroderma.
  • Red skin marks (telangiectasia – the “T” in CREST syndrome): The swelling of small blood vessels near the skin surface creates small red spots or lines on the hands and face.
  • Skin bumps (calcinosis – the “C” in CREST syndrome): Calcium deposits under the skin can cause small raised areas on the elbows, knees and fingers. These bumps can be painful or get infected.
  • Difficulty swallowing (esophageal dysfunction – the “E” in CREST syndrome): limited scleroderma patients often have challenges swallowing due to poorly functioning muscles in the esophagus. This can also result in a backup of acidic stomach fluids (heartburn), which can damage the esophagus lining.

Diagnosis and Treatment

Limited scleroderma is hard to diagnose due to a wide range of symptoms that overlap with other diseases. Doctors typically review the patient’s medical and family history, and examine the affected skin and organs. Skin biopsy and blood tests may be performed to assist in the diagnosis. Additional tests may be required to assess the state of internal organs, like the heart and lungs.

There is no cure for limited scleroderma. The following treatments are used to manage the symptoms and avoid complications:

  • Medication: Infected ulcers on the skin are treated with topical or systemic antibiotics. Patients experiencing heartburn can reduce stomach acids with antacids. Raynaud's symptoms can be managed with blood pressure-lowering drugs that enhance blood circulation. Drugs that suppress the immune system can help prevent some of the complications associated with the lungs.
  • Therapy: Physical therapy helps patients maintain mobility and function with their fingers and face, while occupational therapy teaches patients new ways of performing daily tasks.
  • Surgery: large and painful calcium deposits can be removed surgically. Laser surgery helps lessen the appearance of red lines and spots on the face and hands. Skin ulcers on the fingers that become gangrenous may necessitate amputation of the fingertip(s).

Prevention

There is no way to prevent limited scleroderma. Those with a high risk of developing the disease can practice vigilance for the known symptoms.

Sources

  • “Limited scleroderma (CREST syndrome)”. Mayo Clinic. Retrieved Oct. 29, 2015. http://www.mayoclinic.org/diseases-conditions/crest-syndrome/basics/definition/con-20031524.
  • “Scleroderma”. FamilyDoctor.org (American Academy of Family Physicians (AAFP). Retrieved Oct. 29, 2015. http://familydoctor.org/familydoctor/en/diseases-conditions/scleroderma.html.
  • “What is scleroderma?” Scleroderma Foundation. Retrieved Oct. 29, 2015. http://www.scleroderma.org/site/PageServer?pagename=patients_whatis#.VjJ2kX6rSM8.