- Scleroderma: Symptoms, types, causes, and treatment
- Localized scleroderma
- Systemic scleroderma
- Limited cutaneous systemic sclerosis
- Diffuse systemic sclerosis
- Scleroderma Symptoms, Treatment, Diagnosis & Causes
- Scleroderma: Symptoms, Causes, Diagnosis & Treatments
- Forms of scleroderma
- Localized scleroderma
- Diffuse scleroderma
- Limited scleroderma
- How common is scleroderma?
- What causes scleroderma?
- What are the symptoms of scleroderma?
- Systemic scleroderma
- Johns Hopkins Scleroderma Center
- An Illness of the Immune System
- An Illness that Varies from Person to Person
- An Illness That Does Not Go Away
- Who gets SCLERODERMA?
- EARLY SYMPTOMS
- 1. Primary Raynaud’s
- 2. Secondary Raynaud’s
- Is All Scleroderma the Same?
- Scleroderma – NORD (National Organization for Rare Disorders)
Scleroderma: Symptoms, types, causes, and treatment
Scleroderma refers to a range of disorders in which the skin and connective tissues tighten and harden. It is a long-term, progressive disease. This means it gradually gets worse.
It is considered a rheumatic disease and a connective tissue disorder. It is also thought to be an autoimmune condition, in which the body’s own immune system attacks the body’s tissues.
This results in an overproduction of collagen, the protein that forms the basis of connective tissue. The result is a thickening, or fibrosis, and scarring of tissue.
Scleroderma is not contagious. It may run in families, but it often occurs in patients without any family history of the disease. It ranges from very mild to potentially fatal. Up to 1 in 3 people with the condition develop severe symptoms.
It is thought to affect between 75,000 and 100,000 people in the United States, mostly women aged from 30 to 50 years.
Share on PinterestScleroderma can cause swelling of the hands and thickened skin on the fingers.
Scleroderma means “hard skin.”
Early symptoms of scleroderma include changes in the fingers and hands, for example, stiffness, tightness, and puffiness because of sensitivity to cold or emotional stress.
There may be swelling in the hands and feet, especially in the morning.
Overall symptoms of scleroderma include:
- calcium deposits in connective tissues
- a narrowing of the blood vessels to the hands and feet, known as Raynaud’s disease
- problems of the esophagus, which links the throat and stomach
- tight, thickened skin on the fingers
- red spots on the face and hands
However, symptoms will vary according to the type and how it affects the person, and whether it affects one part of the body or a whole body system.
The two main types of scleroderma are localized and systemic.
Localized scleroderma mainly affects the skin, but it may have an impact on the muscles and bones.
Systemic scleroderma affects the whole body, including the blood and internal organs, and especially the kidneys, esophagus, heart, and lungs.
Localized scleroderma is the mildest form of scleroderma. It does not affect the internal organs. There are two main types: morphea and linear scleroderma.
Morphea: Symptoms include oval-shaped patches of lighter or darker skin, which may be itchy, hairless, and shiny. The shapes have a purple border, and they are white in the middle.
Linear scleroderma: There may be bands or streaks of hardened skin on the limbs, and rarely the head and face. It can affect bones and muscles.
Systemic scleroderma affects the circulation of the blood and the internal organs.
There are two main types:
- limited cutaneous systemic sclerosis syndrome, or CREST
- diffuse systemic sclerosis
Limited cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis is the least severe type of systemic scleroderma. It affects the skin on the hands, feet, face, and lower arms and legs. There may be problems with the blood vessels, lungs, and the digestive system.
It is sometimes known as CREST syndrome, because the symptoms form the acronym, CREST:
C: Calcinosis, or calcium deposits in tissues and under the skin
R: Raynaud’s disease
E: Esophageal problems, including GERD
S: Sclerodactyly, or thick skin on the fingers
T: Telangiectasias, or enlarged blood vessels, manifesting as red spots
The first sign is often Raynaud’s disease, in which blood vessels narrow in the hands and feet, leading to circulatory problems in the extremities. Patients may experience numbness, pain, and color changes in response to stress or cold.
The skin on the hands, feet, and face may start to thicken.
The impact on the digestive system can lead to difficulty swallowing and gastroesophageal reflux disease (GERD), or acid reflux.
The intestinal muscles may be unable to move food through the intestines properly, and the body may not absorb nutrients.
Some of these symptoms can have other underlying causes. Not everyone who has Raynaud’s disease or GERD will have scleroderma. Most do not.
Diffuse systemic sclerosis
In diffuse systemic sclerosis, the skin thickening usually affects the area from the hands to above the wrists. It also affects the internal organs.
People with systemic types of scleroderma may experience weakness, fatigue, difficulty breathing and swallowing, and weight loss.
Share on PinterestResearch into the cause of scleroderma is ongoing.
It is not known what causes scleroderma, but it is thought to be an autoimmune condition that causes the body to produce too much connective tissue. This leads to a thickening, or fibrosis, and scarring of tissue.
Connective tissue forms the fibers that make up the framework that supports the body. They are found under the skin and around the internal organs and blood vessels, and they help support muscles and bones.
Genetic factors are thought to play a role, and possibly environmental factors, but this has not been confirmed.
People with scleroderma often come from families in which another autoimmune disease exists.
It is not contagious.
Scleroderma may be hard to diagnose because it develops gradually and appears in different forms, and because some of the symptoms, such as GERD, can occur in people without scleroderma.
The physician will carry out a physical examination and some tests. The patient may be referred to a rheumatologist, a specialist in joint and connective tissue diseases.
The following tests may be necessary:
- looking at the skin under a microscope to check for changes in the tiny blood vessels, or capillaries, around the finger nails
- skin biopsy
- blood tests to assess the levels of certain antibodies
The doctor will look for signs of skin thickening, GERD, shortness of breath, joint pain, and calcium deposits. They may also check for lung, heart, or gastrointestinal complications.
There is currently no cure for scleroderma, and no medication can stop the overproduction of collagen. However, organ system complications can be treated to minimize damage and maintain functionality.
Localized scleroderma may resolve on its own. Some medications may help control the symptoms and help prevent complications.
The aim will be to relieve the symptoms, to prevent the condition from worsening, or at least slow it down, to detect and treat complications as soon as possible, and to minimize disabilities.
Treatment depends on how the disease affects the individual.
Blood pressure medication may help dilate the blood vessels. This can reduce problems with the organs, such as the lungs and kidneys, and they can help to treat Raynaud’s disease.
Immunosuppressants may calm, or suppress, the immune system.
Physical therapy may help manage pain, improve mobility, and improve strength. Aids, such as splints, may help with daily tasks.
Ultraviolet light therapy and laser surgery may help improve the condition and the appearance of the skin.
Scientists are continuing to look for a treatment for scleroderma and are optimistic that a solution will be found.
The complications of scleroderma range in severity from mild to life-threatening. There is also an increased risk of cancer.
Movement may become restricted as the skin tightens and swelling occurs in the hands and fingers, and around the face and mouth. Joint and muscle movement may also become harder.
Raynaud’s disease can permanently damage the fingertips and toes, resulting in pits or ulcers in the flesh, and possibly gangrene, if severe. Amputation may be necessary.
Lung complications can cause breathing problems. High blood pressure in the artery that carries blood from the heart to the lungs, called pulmonary hypertension, can cause permanent lung damage. There may be failure of the right ventricle of the heart. A lung transplant may be needed.
Kidney damage can cause hypertension, or high blood pressure, and excess protein in the urine. Kidney failure is possible. Symptoms include headache, vision problems, seizures, breathlessness, swelling of the legs and feet, and reduced urine production.
Heart arrhythmias, or abnormal heartbeats and congestive heart failure may result from scarring of heart tissue. The patient may develop an inflammation or the lining around the heart, known as pericarditis. This causes chest pain and fluid build-up around the heart.
Dental problems can arise. If a tightening of facial skin makes the mouth smaller, even daily dental care can become more difficult. Dry mouth is common, increasing the risk of tooth decay. Acid reflux may destroy tooth enamel. Changes in gum tissue may cause teeth to become loose and fall out.
Sexual function is affected, and male erectile dysfunction is common. A woman’s vaginal opening may be constricted, and there may be decreased sexual lubrication.
The thyroid gland can become underactive. This is known as hypothyroidism, and it causes hormonal changes that slow down the metabolism.
Intestines may become underactive, resulting in bloating, constipation, and other problems. The esophagus may have problems moving solids and liquids into the stomach.
Most fatalities due to scleroderma are associated with lung, heart, and kidney problems.
Living with scleroderma can be challenging, depending on the type and the extent of the impact. There is no treatment at this time.
However, there are strategies to reduce some of the impact:
- eating smaller meals to reduce the impact of GERD
- keeping skin well moisturized and taking care to avoid finger injuries
- wrapping up warm to minimize circulatory problems
- doing appropriate exercise to ease stiffness
The Scleroderma Research Foundation offers a number of tips:
- avoiding tobacco, alcohol, caffeine, and recreational drugs
- getting enough sleep
- minimizing and stress and managing anxiety, for example, through yoga and meditation
- avoiding processed foods, sugar, and soda
Patients with scleroderma are also advised not to take echinacea, as it boosts the immune system. This can be harmful for people with an auto-immune disease.
There may be a psychological impact, especially if physical changes occur. The support of family and friends can be important to a person with scleroderma.
The Scleroderma Foundation can help you find advice and support.
The Scleroderma Education Project provides information about research and advances related to scleroderma.
- Immune System / Vaccines
Scleroderma Symptoms, Treatment, Diagnosis & Causes
- Readers Comments 3
- Share Your Story
Treatment of scleroderma is directed toward the individual features affecting different areas of the body.
Aggressive treatments of elevations in blood pressure have been extremely important in preventing kidney failure. Blood pressure medications, particularly the angiotensin converting enzyme (ACE) inhibitor class of drugs, such as lisinopril, are frequently used.
Some research indicates that colchicine can be helpful in decreasing the inflammation and tenderness that periodically accompanies the calcinosis nodules in the skin. Skin itching can be relieved with lotions (emollients) such as Eucerin, Lubriderm, and Curel.
Mild Raynaud's phenomenon may require only hand warming and protection. Low-dose aspirin is often added to prevent tiny blood clots in the fingers, especially in patients with a history of fingertip ulcerations.
Moderate Raynaud's phenomenon can be helped by medications that open up the arteries, such as nifedipine (Procardia, Adalat), nicardipine (Cardene), and diltiazem (Cardizem), or with topical nitroglycerin applied to the most affected digit (most effective on the sides of the digit where the arteries are).
Gently applied finger splinting can protect tender tissues. (It is important to not constrict the tiny arteries on the sides of the fingers when protecting them with splints, braces, or band aid materials.
) A class of medications that is typically used for depression, called serotonin reuptake inhibitors, such as fluoxetine (Prozac), can sometimes improve the circulation of the affected digit. Drugs that constrict blood vessels, such as pseudoephedrine (Sudafed decongestant), should be avoided.
Severe Raynaud's phenomenon can require surgical procedures, such as those to interrupt the nerves of the finger that stimulate constriction of the blood vessels (digital sympathectomy). Ulcerations of the fingers can require topical or oral antibiotics.
Esophagus irritation and heartburn can be relieved with omeprazole (Prilosec), esomeprazole (Nexium), or lansoprazole (Prevacid). Antacids can also be helpful.
Elevating the head of the bed can reduce the back flow of acid into the esophagus that causes inflammation and heartburn. Avoiding caffeine and cigarette smoking also helps.
Of note, there is an increased risk of developing lung cancer in people with scleroderma. This cancer risk is even greater in those who smoke.
Constipation, cramping, and diarrhea are sometimes caused by bacteria that can be treated with tetracycline (Sumycin), erythromycin (E-Mycin, Eryc, Ery-Tab, Pce, Pediazole, Ilosone), ciprofloxacin (Cipro), or metronidazole (Flagyl). Increased fluid intake and fiber intake are good general measures to take to reduce these symptoms. A variety of medications that promote movement of the bowels are available.
Irritated, itchy dry skin can be helped by emollients such as Lubriderm, Eucerin, or Curel.
Telangiectasias, such as those on the face, can be treated with local laser therapy. Sun exposure should be minimized as it can worsen telangiectasias. Telangiectasias from watermelon stomach can require laser treatments to the stomach.
Approximately 10% of patients with the CREST variant develop elevated pressures in the blood vessels to the lungs (pulmonary hypertension).
Abnormally elevated blood pressure of the arteries supplying the lungs is often treated with calcium antagonist medications, such as nifedipine (Procardia), and blood-thinning drugs (anticoagulation). More severe pulmonary hypertension can be helped by continuous intravenous infusion or inhalation of prostacyclin (Iloprost).
Taken by mouth, bosentan (Tracleer) is used to treat pulmonary hypertension. In addition, sildenafil (Revatio) and tadalafil (Cialis) are approved to treat pulmonary hypertension.
Additionally, medicines are used to suppress the overly active immune system that seems to be spontaneously causing the disease in organs. Immunosuppressants used for this purpose include D-penicillamine, azathioprine (Imuran, Azasan), and methotrexate (Rheumatrex, Trexall).
Serious inflammation of the lungs (alveolitis) can require immune suppression with cyclophosphamide (Cytoxan) along with prednisone (Deltasone, Liquid Pred). The optimal treatment of scleroderma lung disease is an area of active research.
Stem-cell transplantation is being explored as a possible option.
No medicine has been found to be universally effective for patients with scleroderma. In an individual patient, the illness may be mild and not require treatments. In some, the disease is ravaging, relentless, and can lead to death. Because blood vessel damage is a primary part of the pathology of scleroderma, patients with this condition must not smoke.
Scleroderma is a long-lasting disease that affects your skin, connective tissue, and internal organs. It happens when your immune system causes your body to make too much of the protein collagen, an important part of your skin.
As a result, your skin gets thick and tight, and scars can form on your lungs and kidneys. Your blood vessels may thicken and stop working the way they should. This leads to tissue damage and high blood pressure.
Scleroderma isn’t contagious or infectious, meaning you can’t get it from other people. There’s no cure, but treatment can ease your symptoms so you feel better.
There are two kinds of scleroderma:
Localized scleroderma mainly affects your skin. It happens in one of two forms:
- Morphea. This involves hard, oval-shaped patches on your skin. They start out red or purple and then turn whitish in the center. Sometimes, this type can affect blood vessels or internal organs. This is called generalized morphea.
- Linear. This kind causes lines or streaks of thickened skin on your arms, legs, or face.
Systemic scleroderma, also called generalized scleroderma, can involve many body parts or systems. There are two types:
- Limited scleroderma. This comes on slowly and affects the skin of your face, hands, and feet. It can also damage your lungs, intestines, or esophagus, the tube that carries food from your mouth to your stomach. It’s sometimes called CREST syndrome, after its five common signs:
- Calcinosis. This is when calcium salts form nodules under your skin or in your organs.
- Raynaud’s phenomenon. This is a lack of blood flow to parts of your body such as your fingers, toes, or nose, usually because of cold. Your skin might turn red, white, or blue.
- Esophageal dysfunction. This is when your esophagus doesn’t work the way it should.
- Sclerodactyly. This is when your skin becomes thin and shiny. It usually causes problems with moving your fingers and toes.
- Telangiectasia. This is when small blood vessels grow near the surface of your skin.
Diffuse scleroderma. This comes on quickly. Skin on the middle part of your body, thighs, upper arms, hands, and feet can become thick. This form also affects internal organs your heart, lungs, kidneys, and gastrointestinal tract.
Doctors don’t know what causes scleroderma. It’s one of a group of conditions known as autoimmune diseases. These happen when your immune system, which usually protects you from germs, instead causes inflammation of your skin and other organs.
Anyone can get scleroderma. It usually happens in women and in people who are ages 35 to 55. Other things that might raise your risk include:
- Certain changes in your genes
- A family history of autoimmune disease
- Triggers in the world around you viruses, medications, or chemicals
The symptoms can affect many parts of your body. They include:
- Hardened or thickened skin that looks shiny and smooth. It’s most common on your hands and face.
- Raynaud's phenomenon
- Ulcers or sores on your fingertips
- Small red spots on your face and chest
- Firm, oval-shaped patches on your skin
- Trouble swallowing
- Painful or swollen joints
- Muscle weakness
- Dry eyes or mouth (Sjogren's syndrome)
- Swelling, mostly of your hands and fingers (edema)
- Shortness of breath
- Belly cramps and bloating
- Weight loss with no clear cause
Your doctor will do a physical exam and ask about your health history. They might order tests including:
- Imaging tests such as X-rays and CT scans
- Blood tests
- Gastrointestinal tests
- Lung function tests
- Heart tests such as EKGs and echocardiograms
They might also take a small sample of skin (called a biopsy) for a specialist to look at under a microscope.
Treatment can help lower your risk of complications, which may include:
- High blood pressure in your lungs
- Scar tissue in your lungs
- Loss of blood flow to your fingers and toes
- Muscle inflammation
- Kidney failure
You can manage the symptoms of scleroderma with:
- Nonsteroidal anti-inflammatory drugs (NSAIDs) ibuprofen or aspirin. They can help with swelling and pain.
- Steroids and other medications to slow your immune system. These can help with muscle, joint, or internal organ problems.
- Drugs to boost blood flow to your fingers
- Blood pressure medication
- Drugs to open blood vessels in your lungs or to keep tissue from scarring
- Heartburn medication
- Medications to help move food through your intestines
Other things that help may include:
National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Scleroderma: Etiology, Goldman: Cecil Medicine, 24th ed.
UpToDate: “Overview of the treatment and prognosis of systemic sclerosis (scleroderma) in adults.”
Mayo Clinic. “Scleroderma.”
Scleroderma Foundation. “What is scleroderma?”
American College of Rheumatology: “Scleroderma.”
National Organization for Rare Disorders: “Scleroderma.”
Cleveland Clinic: “Scleroderma: An Overview,” “4 Questions You May Have About Scleroderma.”
National Library of Medicine Genetics Home Reference: “Systemic scleroderma.”
Johns Hopkins Scleroderma Center: “Understanding Scleroderma.”
© 2020 WebMD, LLC. All rights reserved.
Scleroderma: Symptoms, Causes, Diagnosis & Treatments
Scleroderma is a chronic, although rare, autoimmune disease in which normal tissue is replaced with dense, thick fibrous tissue. Normally, the immune system helps defend the body against disease and infection.
In patients with scleroderma, the immune system triggers other cells to produce too much collagen (a protein).
This extra collagen is deposited in the skin and organs, which causes hardening and thickening (similar to the scarring process).
Although it most often affects the skin, scleroderma also can affect many other parts of the body including the gastrointestinal tract, lungs, kidneys, heart, blood vessels, muscles and joints. Scleroderma in its most severe forms can be life-threatening.
Forms of scleroderma
There are 2 major forms of scleroderma, localized and systemic. Systemic scleroderma can be broken down into two main types: diffuse and limited.
The more common form of the disease, localized scleroderma, affects only a person's skin, usually in just a few places. It often appears in the form of waxy patches or streaks on the skin, and it is not uncommon for this less severe form to go away or stop progressing without treatment.
As its name implies, this form affects many parts of the body. Not only can it affect the skin, but it also can affect many internal organs, hindering digestive and respiratory functions, and causing kidney failure. Systemic scleroderma can sometimes become serious and life-threatening.
Also known as CREST syndrome, each letter stands for a feature of the disease:
- C alcinosis (abnormal calcium deposits in the skin)
- R aynaud's phenomenon (see the symptoms section)
- E sophageal dysmotility (difficulty swallowing)
- S clerodactyly (skin tightening on the fingers)
- T elangectasias (red spots on the skin)
Patients with limited scleroderma do not experience kidney problems. The skin thickening is restricted to the fingers, hands and forearms, and also sometimes the feet and legs. Digestive involvement is confined mostly to the esophagus.
Among later complications, pulmonary hypertension, which can develop in 20% to 30% of cases, can be potentially serious. In pulmonary hypertension, the arteries from the heart to the lungs narrow down and generate high pressure on the right side of the heart, which can ultimately lead to right sided heart failure.
Early symptoms of pulmonary hypertension include shortness of breath, chest pain, and fatigue.
How common is scleroderma?
Approximately 250 persons per million American adults are affected by scleroderma. It usually develops between the ages of 35 and 55, although a pediatric form also occurs. Scleroderma is four times more common in women than it is in men.
What causes scleroderma?
The exact cause of scleroderma is unknown. Although rarely, scleroderma can run in families. Most cases do not show any family history of the disease. Scleroderma is not contagious.
What are the symptoms of scleroderma?
In addition to the thickening of skin, the following other symptoms may occur in a person with scleroderma:
- Swelling of the hands and feet
- Red spots on the skin (telangectasias)
- Excessive calcium deposition in the skin (calcinosis)
- Joint contractures (rigidity)
- Tight, mask- facial skin
- Ulcerations on the fingertips and toes
- Pain and stiffness in the joints
- Persistent cough
- Shortness of breath
- Heartburn (acid reflux)
- Difficulty swallowing
- Digestive and gastrointestinal problems
- Weight loss
- Hair loss
In addition to these symptoms, 2 other conditions—Raynaud's phenomenon and Sjögren's syndrome—also affect patients with scleroderma.
Approximately 85% to 95% of scleroderma patients experience Raynaud's phenomenon. However, primary Raynaud's phenomenon is common and often occurs by itself without any underlying connective tissue disorder.
Only 10% of patients with Raynaud's phenomenon will develop scleroderma.
Sjögren's syndrome is manifested by dry eyes and mouth. This dryness is due to lack of secretion of tears and saliva as a result of immune damage and destruction of the moisture-producing glands of the body. This condition is named after the Swedish eye doctor, Henrik Sjögren, who first described it. It is seen in approximately 20% of patients with scleroderma.
Last reviewed by a Cleveland Clinic medical professional on 09/16/2019.
Get useful, helpful and relevant health + wellness information enews
Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy
Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs.
The word “scleroderma” means hard skin in Greek, and the condition is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The condition is also called systemic sclerosis because the fibrosis can affect organs other than the skin.
Fibrosis is due to the excess production of a tough protein called collagen, which normally strengthens and supports connective tissues throughout the body.
The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud phenomenon, which can occur weeks to years before fibrosis.
In Raynaud phenomenon, the fingers and toes of affected individuals turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities.
Another early sign of systemic scleroderma is puffy or swollen hands before thickening and hardening of the skin due to fibrosis. Skin thickening usually occurs first in the fingers (called sclerodactyly) and may also involve the hands and face.
In addition, people with systemic scleroderma often have open sores (ulcers) on their fingers, painful bumps under the skin (calcinosis), or small clusters of enlarged blood vessels just under the skin (telangiectasia).
Fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys.
Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction).
There are three types of systemic scleroderma, defined by the tissues affected in the disorder. In one type of systemic scleroderma, known as limited cutaneous systemic scleroderma, fibrosis usually affects only the hands, arms, and face.
Limited cutaneous systemic scleroderma used to be known as CREST syndrome, which is named for the common features of the condition: calcinosis, Raynaud phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia.
In another type of systemic scleroderma, known as diffuse cutaneous systemic scleroderma, the fibrosis affects large areas of skin, including the torso and the upper arms and legs, and often involves internal organs.
In diffuse cutaneous systemic scleroderma, the condition worsens quickly and organ damage occurs earlier than in other types of the condition. In the third type of systemic scleroderma, called systemic sclerosis sine scleroderma (“sine” means without in Latin), fibrosis affects one or more internal organs but not the skin.
Approximately 15 percent to 25 percent of people with features of systemic scleroderma also have signs and symptoms of another condition that affects connective tissue, such as polymyositis, dermatomyositis, rheumatoid arthritis, Sjögren syndrome, or systemic lupus erythematosus. The combination of systemic scleroderma with other connective tissue abnormalities is known as scleroderma overlap syndrome.
The prevalence of systemic scleroderma is estimated to range from 50 to 300 cases per 1 million people. For reasons that are unknown, women are four times more ly to develop the condition than men.
Researchers have identified variations in several genes that may influence the risk of developing systemic scleroderma. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex.
The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins.
Specific normal variations of several HLA genes seem to affect the risk of developing systemic scleroderma.
Normal variations in other genes related to the body's immune function, such as IRF5 and STAT4, are also associated with an increased risk of developing systemic scleroderma.
Variations in the IRF5 gene are specifically associated with diffuse cutaneous systemic scleroderma, and a variation in the STAT4 gene is associated with limited cutaneous systemic scleroderma.
The IRF5 and STAT4 genes both play a role in initiating an immune response when the body detects a foreign invader (pathogen) such as a virus.
It is not known how variations in the associated genes contribute to the increased risk of systemic scleroderma.
Variations in multiple genes may work together to increase the risk of developing the condition, and researchers are working to identify and confirm other genes associated with increased risk.
In addition, a combination of genetic and environmental factors seems to play a role in developing systemic scleroderma.
Most cases of systemic scleroderma are sporadic, which means they occur in people with no history of the condition in their family. However, some people with systemic scleroderma have close relatives with other autoimmune disorders.
A small percentage of all cases of systemic scleroderma have been reported to run in families; however, the condition does not have a clear pattern of inheritance.
Multiple genetic and environmental factors ly play a part in determining the risk of developing this condition.
As a result, inheriting a genetic variation linked with systemic scleroderma does not mean that a person will develop the condition.
- familial progressive scleroderma
- progressive scleroderma
- systemic sclerosis
Johns Hopkins Scleroderma Center
Scleroderma is an autoimmune, rheumatic, and chronic disease that affects the body by hardening connective tissue. (“Connective tissue” is widespread. It adds strength to organs and other parts of the body.) Connective tissue is made of many kinds of proteins. Among them is collagen of the skin. Scleroderma literally means hard skin.
An Illness of the Immune System
Scleroderma is classified as an autoimmune disease. This means that a person’s immune system works against itself. The normal immune system protects the body by fighting off foreign invaders such as viruses and infections. In an autoimmune disease, the immune system mistakes a person’s own tissues as foreign invaders and sets up a protective attack that backfires to cause problems.
In scleroderma, cells start making collagen as if there were an injury that needs repairing. The cells do not turn off as they should and end up making too much collagen. The extra collagen in the tissues can prevent the body’s organs from functioning normally.
An Illness that Varies from Person to Person
The severity of scleroderma varies from person to person. It can be a mild annoyance, or it can cause significant clinical problems. For others, it can become life threatening. Most people have episodes where the illness improves or even goes into remission.
An Illness That Does Not Go Away
Scleroderma is chronic. This means that it lasts for your lifetime. However, diabetes, high blood pressure, heart disease, and psoriasis, scleroderma can be treated and the symptoms managed. The cause of scleroderma is unknown and there is currently no cure, but there are treatments that can effectively prevent or limit the damage caused by this chronic disease.
Who gets SCLERODERMA?
Only a few people get scleroderma, but no one really knows why.
Scleroderma is a rare disease. Fewer than 500,000 people in the United States have scleroderma.
No one knows for sure why or how it develops. Some experts report that six seven patients are women. The most common age span for scleroderma to develop is between 35 and 50.
Still, young children and older adults can get the disease.
Some families are more affected by autoimmune disorders than others.
Although scleroderma does not seem to run in families, it is common for family members to have other autoimmune diseases thyroid disease, rheumatoid arthritis, or lupus.
African Americans and Native Americans generally have more severe scleroderma than Caucasians. These findings suggest a hereditary (genetic) component to scleroderma and other autoimmune disorders.
Environmental factors could also put people at risk for scleroderma. For example, men exposed to silica appear to have a higher risk for developing scleroderma and certain drugs are capable of causing a scleroderma- reaction.
Changes in fingers.
For some people, two symptoms are among the early signs of scleroderma:
- Fingers that become very sensitive to cold and change color with cold or emotional stress: Raynaud’s phenomenon
- Fingers and hands that become stiff and puffy
Finger color changes are caused by spasm and narrowing of blood vessels. This occurs because of excess collagen that has narrowed the blood vessels and over reaction of the skin blood vessel to cold temperatures and emotional stress.
The cold sensitivity and color changes are called Raynaud’s (pronounced RAY-KNOWDS) phenomenon. Raynaud’s phenomenon is a common condition. Most people with Raynaud’s phenomenon will NOT develop scleroderma. There are two types of Raynaud’s phenomenon:
1. Primary Raynaud’s
People who have Raynaud’s phenomenon and not scleroderma or other autoimmune disorders have primary Raynaud’s.
2. Secondary Raynaud’s
A small percentage of people with Raynaud’s phenomenon develop scleroderma. Conversely, almost everyone with scleroderma has Raynaud’s symptoms. This is secondary Raynaud’s phenomenon, so-named because it is secondary to the scleroderma.
Is All Scleroderma the Same?
No. Not everyone has the same experience.
How scleroderma progresses and changes over time varies greatly among people. Most people experience tight and swollen fingers in the beginning and will ly have Raynaud’s phenomenon.
Afterwards, it can take months to years for the full extent of the disease to develop. In many patients, it remains being mild and does not progress.
In general, the more skin that is involved, the more severe the case of scleroderma.
Learn more about the different types of Scleroderma.
Scleroderma – NORD (National Organization for Rare Disorders)
Treatment of scleroderma is symptomatic and supportive. Medications used to control the hardening of the skin and internal organs (fibrosis) are D- penicillamine and cholchicine. Other skin care may include lubricating creams or antibiotic ointments for infected ulcerations.
Captopril and enalapril, angiotensin-converting enzyme inhibitors that inhibit the formation of angiotensin, are the drugs of choice for the treatment of kidney disease associated with scleroderma. Other vasodilators or beta-adrenergic blockers also have been used with some success. These agents are effective in controlling hypertension and can preserve kidney function.
If Raynaud's phenomenon occurs with scleroderma, drug therapy may help widen (dilate) blood vessels. Vasodilators, including the drugs nifedipine (Procardia), reserpine (Serpasil), guanethidine (Ismelin), phenoxybenzamine (Dibenzyline), nicotinic acid, diltiazem, verapamil, and/or prazosin (Minipress) may be prescribed.
In rare cases of scleroderma, abnormal accumulation of calcium salts under the skin and in other organs (calcinosis) may require surgical intervention. For joint pain or arthritis, anti-inflammatory drugs are generally prescribed including aspirin, indomethadin (Indocin), and naproxen (Naprosyn). Some individuals may require low doses of corticosteroid drugs to control these symptoms.
The management of symptoms of scleroderma related to pulmonary hypertension involves the use of supplemental oxygen.
The orphan drug Tracleer (bosentan) has been approved by the Food and Drug Administration (FDA) for treatment of pulmonary hypertension. Pulmonary hypertension occurs in some individuals with scleroderma.
The drug improves the exercise ability of individuals with primary pulmonary hypertension allowing them to exert themselves physically without shortness of breath. Tracleer is manufactured by Actelion Pharmaceuticals US, Inc.
of San Francisco, California.
Epoprostenol sodium (Flolan) was approved by the FDA in 2000 as a treatment for pulmonary hypertension in scleroderma. For information on Flolan, contact its manufacturer, GlaxoSmithKline.
When abnormalities of the heart (myocardial perfusions) occur as a result of scleroderma, the drugs nifedipine and dipyridamole may be administered. Nonsteroidal anti-inflammatory or corticosteroid drugs are typically used to treat the symptoms relating to the inflammation of the membranes of the heart (pericarditis).
When scleroderma causes the esophagus and/or gastrointestinal tract to become inflamed or ulcerated, the treatments of choice are drugs known as H2 blockers such as cimetidine or ranitidine; omeprazole may also be used.
Metoclopramide has been beneficial in treating the symptoms associated with gastrointestinal dysmotility. Gastrointestinal dysmotility refers to problems with the muscular contractions of the stomach wall that are necessary to move or squeeze contents forward.
Acid reflux from the stomach into the esophagus may be partially controlled by dietary regulation. Individuals are urged to avoid certain foods such as fats, spices, tea, coffee, and alcohol. Several small and frequent meals per day lighten the work of the gastrointestinal system.
Sitting upright for at least 2 hours after eating aids the digestive process.
Good oral hygiene is important because gum disease is common in scleroderma. Some affected individuals may experience excessive dryness of the mouth and eyes. The combination of dry mouth and dry eyes is known as Sjogren's syndrome. (For more information, choose “Sjogren” as your search term in the Rare Disease Database.)