Systemic Scleroderma: Symptoms, Treatment, Inheritance & 3 Types (2022)

  • What Is It?
    • What Is Systemic Scleroderma?
    • How Common Is Systemic Scleroderma?
    • What Other Names Do People Use for Systemic Scleroderma?
  • 3 Types
    • What Are the Three Different Types of Systemic Scleroderma?
  • Signs and Symptoms
    • What Are the Signs and Symptoms of Systemic Scleroderma?
    • Do People with Systemic Scleroderma Suffer From Other Conditions?
  • Genetic
    • What Genes Are Related to Systemic Scleroderma?
  • Inheritance
    • How Do People Inherit Systemic Scleroderma?
  • Guide
    • Systemic Scleroderma Topic Guide
    • Doctor's Notes on Systemic Scleroderma Symptoms

What Is Systemic Scleroderma?

Systemic Scleroderma: Symptoms, Treatment, Inheritance & 3 Types (1)

Skin hardening first affects the fingers in people with scleroderma.

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 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.

What Are the Three Different Types of Systemic Scleroderma?

There are three types of systemic scleroderma, defined by the tissues affected by 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.

What Are the Signs and Symptoms of Systemic Scleroderma?

The signs and symptoms of systemic scleroderma usually begin with episodes of the Raynaud phenomenon, which can occur weeks to years before fibrosis. In the Raynaud phenomenon, the fingers and toes of affected individuals turn white or blue in response to cold temperatures 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).

(Video) Scleroderma | Causes, Symptoms, Treatment

Do People with Systemic Scleroderma Suffer From Other Conditions?

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.

SLIDESHOW Hyperthyroidism Symptoms and Treatment See Slideshow

(Video) HOW TO TREAT RHEUMATOID ARTHIRITIS. RA Signs and Symptoms and Management.

What Genes Are Related to Systemic Scleroderma?

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.

Cancerous Tumors Multiple Sclerosis
Adult Skin Problems Habits That Wreck Your Teeth
Manage Diabetes in 10 Minutes Erectile Dysfunction
Type 2 Diabetes Warning Signs Health Benefits of Sex
Scalp, Hair and Nails ADHD Symptoms in Children?

How Common Is Systemic Scleroderma?

  • 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 likely to develop the condition than men.

How Do People Inherit 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 likely 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.

What Other Names Do People Use for Systemic Scleroderma?

  • familial progressive scleroderma
  • progressive scleroderma
  • systemic sclerosis
(Video) Nails disorders , Nails diseases and differential diagnosis || Mis.Medicine

Scleroderma Causes

Although scientists don't know exactly what causes scleroderma, they are certain that people cannot catch it from or transmit it to others. Studies of twins suggest it is also not inherited. Scientists suspect that scleroderma comes from several factors that may include:

(Video) Schizophrenia - causes, symptoms, diagnosis, treatment & pathology

Abnormal immune or inflammatory activity: Like many other rheumatic disorders, scleroderma is believed to be an autoimmune disease. An autoimmune disease is one in which the immune system, for unknown reasons, turns against one's own body.

In scleroderma, the immune system is thought to stimulate cells called fibroblasts so they produce too much collagen. The collagen forms thick connective tissue that builds up within the skin and internal organs and can interfere with their functioning. Blood vessels and joints can also be affected.

Genetic makeup: Although genes seem to put certain people at risk for scleroderma and play a role in its course, the disease is not passed from parent to child like some genetic diseases.

Environmental triggers: Research suggests that exposure to some environmental factors may trigger scleroderma-like disease (which is not actually scleroderma) in people who are genetically predisposed to it. Suspected triggers include viral infections, certain adhesive and coating materials, and organic solvents such as vinyl chloride or trichloroethylene. But no environmental agent has been shown to cause scleroderma. In the past, some people believed that silicone breast implants might have been a factor in developing connective tissue diseases such as scleroderma. But several studies have not shown evidence of a connection.

Hormones: Women develop scleroderma more often than men. Scientists suspect that hormonal differences between women and men play a part in the disease. However, the role of estrogen or other female hormones has not been proven.

SOURCE:

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Reviewed on 9/14/2022

References

Genetics Home Reference. "Systemic Scleroderma." July 1, 2020.

https://medlineplus.gov/genetics/condition/systemic-scleroderma/

(Video) Placenta Previa Nursing Treatment, Symptoms, Types, Causes NCLEX Lecture

FAQs

What are the three types of scleroderma? ›

Three Types of Systemic Sclerosis (Scleroderma): Limited, Diffuse and Sine.

How is scleroderma inherited? ›

Genetics plays a role in the disease, but it is not passed on from parents to children, and it's rare for immediate family members of those with scleroderma to get it. It is common for family members, however, to have other autoimmune diseases such as thyroid disease, rheumatoid arthritis or lupus.

What is the best treatment for scleroderma? ›

Treating Scleroderma

Getting pain relief through nonsteroidal, anti-inflammatory medications or corticosteroids. Easing skin itchiness with skin lotions and moisturizers. Slowing skin thickening and minimizing damage to the internal organs with medication that suppresses the immune system.

What is the latest treatment for scleroderma? ›

Nintedanib was approved by the FDA in 2019 to slow the rate of decline in pulmonary function in patients who have interstitial lung disease associated with scleroderma.

What were your first symptoms of scleroderma? ›

Early symptoms may include swelling and itchiness. Affected skin can become lighter or darker in color and may look shiny because of the tightness. Some people also experience small red spots, called telangiectasia, on their hands and face.

What virus causes scleroderma? ›

One theory suggests that scleroderma is caused by a virus or other infection. For example, a common virus called CMV (cytomegalovirus) is known to infect cells (endothelial cells) that line our blood vessels, which we know are diseased in scleroderma (3).

What drugs cause scleroderma? ›

Other pharmacological agents that may cause scleroderma include paclitaxel, pentazocine, cocaine, appetite suppressants and D-penicillamine. Paclitaxel is a cytotoxic alkaloid used in cancer chemotherapy. Pentazocine is an analgesic medication.

Is there genetic testing for scleroderma? ›

Genetic testing may allow physicians to better distinguish scleroderma from its overlap syndromes and help to predict the disease's likely course, a study reports.

What genes cause 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.

What test confirms scleroderma? ›

There is no single test for scleroderma. It is a clinical diagnosis that requires a thorough exam and history by the doctor. The doctor will start by asking questions about symptoms and previous medical history.

What diet is best for scleroderma? ›

General Diet Recommendations:

Choose fresh, whole, minimally processed foods, without preservatives, artificial ingredients, or hydrogenated oils. If there are “chemical” sounding names in the ingredient list, avoid it. In general, the shorter the ingredient list, the better.

What drugs treat scleroderma? ›

There are several drugs that are being used, but only a few well designed studies have been performed. These immunosuppressing drugs include methotrexate, cyclosporine, antithymocyte globulin, mycophenolate mofetil and cyclophosphamide.

What foods should I avoid with systemic sclerosis? ›

Avoid eating two to three hours before bed- time. Avoid foods that may aggra- vate symptoms such as citrus fruits, tomato products, greasy fried foods, coffee, garlic, onions, peppermint, gas-producing foods (such as raw peppers, beans, broccoli or raw onions), spicy foods, carbonated beverages and alcohol.

Can scleroderma affect the brain? ›

Conclusion—The neuropathological findings in these two patients suggest that systemic sclerosis may induce primary vascular changes in the brain, of which calcification may be a marker.

How long can you live with systemic scleroderma? ›

Patients with limited cutaneous systemic sclerosis have a 10-year survival estimate of approximately 90%. However, development of interstitial lung disease (ILD) or pulmonary artery hypertension (PAH) dramatically increases the risk of death.

What organs does scleroderma affect? ›

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.

How fast does systemic scleroderma progress? ›

In our cohort, 56% of observed progression occurred within 5 years since the first non-Raynaud symptom. While progression in skin involvement occurred more frequently in early disease, the proportion of patients with lung, heart or GI progression was relatively stable over time.

Does scleroderma affect your eyes? ›

In some cases, scleroderma can lead to eye problems, including the following: Dry eyes According to research in the journal Archives of Medical Science, the most common eye complication in people with Scleroderma is dry eyes. Dry eyes occur when you cannot produce enough film of tears to keep the eyes lubricated.

What is the most serious complication of scleroderma? ›

Kidney Symptoms and Complications

The typical course of kidney involvement in scleroderma is a slow progression that may produce some damage but does not usually lead to kidney failure. The most serious kidney complication in scleroderma is renal crisis.

How serious is systemic scleroderma? ›

It is the most fatal of all the rheumatologic diseases. Systemic scleroderma is very unpredictable although most cases can be classified into one of four different general patterns of disease (see Classification).

Can scleroderma cause sudden death? ›

Sudden Cardiac Death. Scleroderma may affect virtually all cardiac structures and is associated with an increased risk of death. Symptoms such as palpitations or syncope are predictive of ECG abnormalities in patients with SSc.

Does scleroderma cause hair loss? ›

Skin signs of scleroderma may include: Fingers or toes that turn blue or white in response to cold temperatures (Raynaud phenomenon) Stiffness and tightness of skin of fingers, hands, forearm, and face. Hair loss.

Can scleroderma affect the bladder? ›

People with Scleroderma may experience bladder issues because of their condition and/ or medications or due to other common causes such as menopause or pelvic floor weakness after childbirth.

What are the stages of scleroderma? ›

Cutaneous involvement has 3 phases: (1) edematous, (2) indurative, and (3) atrophic. Skin becomes thickened and tight.

Who is at risk for scleroderma? ›

Middle age, female sex, positive family history and exposure to silica are risk factors for scleroderma. Infectious agents, alcohol and cigarette smoking are not risk factors for scleroderma development.

Can stem cells cure scleroderma? ›

New clinical trial findings show that a therapeutic regimen involving transplantation of a person's own blood-forming stem cells can improve survival and quality of life for people with severe scleroderma, a life-threatening autoimmune disease.

How can scleroderma be prevented? ›

Lifestyle and home remedies
  1. Stay active. Exercise keeps your body flexible, improves circulation and relieves stiffness. ...
  2. Protect your skin. Take good care of dry or stiff skin by using lotion and sunscreen regularly. ...
  3. Don't smoke. ...
  4. Manage heartburn. ...
  5. Protect yourself from the cold.
27 Jan 2022

What triggers systemic sclerosis? ›

The cause of systemic sclerosis is unknown. Swelling of the fingers, intermittent coolness and blue discoloration of the fingers, joints freezing in permanent (usually flexed) positions (contractures), and damage to the gastrointestinal system, lungs, heart, or kidneys may develop.

What is the difference between scleroderma and systemic sclerosis? ›

What's the difference between scleroderma and systemic sclerosis? Scleroderma is seen only on the skin. However, when the fibrosis involves your other internal organs, this is considered systemic sclerosis.

How do you test for systemic sclerosis? ›

Systemic sclerosis is diagnosed based on the presence of various symptoms above and physical examination findings. The diagnosis can be confirmed by the presence of certain autoantibodies in the blood as well as radiographic studies. Particularly, the ANA, or the antinuclear antibody test, is positive, but not always.

What doctor sees scleroderma? ›

Doctors who most commonly diagnose scleroderma are dermatologists and rheumatologists. Dermatologists have expertise in diagnosing diseases that affect the skin, and rheumatologists specialize in diseases that affect the joints, muscles, and bones.

Can scleroderma go away? ›

Scleroderma is a chronic illness that will not go away. However, it is manageable. Treatment can make you comfortable. It can help to control the disease and keep it from getting worse.

How does a rheumatologist diagnose scleroderma? ›

Typically, the rheumatologist will order an ANA (antinuclear antibody, an antibody commonly found in many of the autoimmune diseases), as well as an Scl-70 antibody (positive in some patients with diffuse scleroderma), anticentromere antibody (generally felt to be a marker for limited scleroderma), and an antibody ...

What juice is good for scleroderma? ›

Daily Vitamin C Smoothie

I juice: 1 peeled orange, strawberries, blueberries, ½ pineapple, and then blend this juice with ½ banana and the same amount of natural yogurt. I add the yogurt as it neutralizes the acidity of the fruits, minimizing acid reflux potential.

Does exercise help scleroderma? ›

Regular exercise is especially important for people with scleroderma because it helps manage common symptoms such as fatigue, joint pain and stiffness, and stress.

Does massage help scleroderma? ›

With its ability to aid in increased circulation and joint function, massage therapy can be an important part of allowing scleroderma patients to deal with the disease, helping them to live active and rewarding lives.

Can you live a normal life with scleroderma? ›

Many people with scleroderma lead a normal, or near normal life, although most have to be careful to avoid cold environments. People who are more severely affected (for example those with lung involvement, or limitation in hand function) are often restricted in what they are able to do.

What is the survival rate for scleroderma? ›

Because the presentation and prognosis of SSc are highly heterogeneous, studies showed a 10-year survival rate between 50 and 84% [4, 18,19,20,21]. Such mortality is still related to SSc in 27 to 72% of cases [3, 6, 8, 16,17,18, 21,22,23,24,25,26,27].

How do I know what type of scleroderma I have? ›

There is no single test for scleroderma. It is a clinical diagnosis that requires a thorough exam and history by the doctor. The doctor will start by asking questions about symptoms and previous medical history.

Which is worse limited or diffuse scleroderma? ›

limited systemic scleroderma. Patients with diffuse systemic scleroderma are more likely to have extensive skin fibrosis on the arms, legs, and trunk and a higher risk of developing internal organ damage, compared to those with limited scleroderma.

What is the mildest form of scleroderma? ›

Localised scleroderma is the mildest form of the condition. It often affects children, but can occur at any age. This type just affects the skin, causing 1 or more hard patches to develop. Internal organs aren't affected.

How do I know if I have limited or diffuse scleroderma? ›

This individual has skin thickening above the elbows and knees and on the chest and would be classified as having systemic sclerosis with diffuse scleroderma. An individual with skin thickening restricted to the face, forearms, hands and fingers would be said to have systemic sclerosis with limited scleroderma.

Does scleroderma affect the brain? ›

Conclusion—The neuropathological findings in these two patients suggest that systemic sclerosis may induce primary vascular changes in the brain, of which calcification may be a marker.

How fast does scleroderma progress? ›

If it is acute or rapidly progressing, it may be a life-threatening condition that affects internal organs. The most critical period for rapid progression is usually within the first 2 to 5 years of the start of the disease.

How long can you live with systemic scleroderma? ›

People who have localized scleroderma may live an uninterrupted life with only minor symptom experiences and management. On the other hand, those diagnosed with an advanced and systemic version of the disease have a prognosis of anywhere from three to 15 years.

What vitamins are good for scleroderma? ›

Consider taking an over the counter multivitamin/mineral supplement containing 15 mg zinc, 10-18 mg iron, vitamins A, D, E, and K, folate, and B-12. If specific nutrient deficiencies have been identified, extra supplementation may be required.

What diet is best for scleroderma? ›

Choose fresh, whole, minimally processed foods, without preser- vatives, artificial ingredients or hydrogenated oils. If there are “chemical” sounding names in the ingredient list, avoid it. In gener- al, the shorter the ingredient list, the better.

Does scleroderma affect the eyes? ›

In some cases, scleroderma can lead to eye problems, including the following: Dry eyes According to research in the journal Archives of Medical Science, the most common eye complication in people with Scleroderma is dry eyes. Dry eyes occur when you cannot produce enough film of tears to keep the eyes lubricated.

Is there a blood test for scleroderma? ›

Antinuclear antibody (ANA) testing is the most important blood test to screen for scleroderma and other connective tissue diseases. Your lab technician will perform a blood test, place a sample of your cells on a slide, and then examine them using a fluorescent microscope.

Who is most affected by scleroderma? ›

Who is most at risk for scleroderma? Like lupus and rheumatoid arthritis, scleroderma affects women more frequently than men. About 80% of patients with systemic scleroderma are women. This rare disease can develop at age but usually starts to affect adults between their 20s to 50s.

Does scleroderma cause hair loss? ›

Skin signs of scleroderma may include: Fingers or toes that turn blue or white in response to cold temperatures (Raynaud phenomenon) Stiffness and tightness of skin of fingers, hands, forearm, and face. Hair loss.

Does scleroderma affect feet? ›

Scleroderma can weaken and “break up” the tissues in the body, causing changes to the cushioning and surfaces of your feet. Many people with systemic sclerosis suffer changes in the pad of the foot, causing them to feel like they are walking on gravel. Nail changes. Patients may undergo many different nail changes.

Is systemic scleroderma fatal? ›

It is the most fatal of all the rheumatologic diseases. Systemic scleroderma is very unpredictable although most cases can be classified into one of four different general patterns of disease (see Classification).

Where does scleroderma usually start? ›

Limited cutaneous scleroderma comes on gradually and usually affects skin on your fingers, hands, face, lower arms, and legs below the knees. It can also cause problems with your blood vessels and esophagus.

Videos

1. Peripheral Vascular Disease (PVD) Peripheral Arterial (PAD) Venous Disease Nursing Treatment Ulcers
(RegisteredNurseRN)
2. Pneumonia - causes, symptoms, diagnosis, treatment, pathology
(Osmosis)
3. Ischemic Stroke - causes, symptoms, diagnosis, treatment, pathology
(Osmosis)
4. Cancer | Causes, Symptoms, Treatment | Types of Tumor | in Hindi
(Science Explored)
5. Tuberculosis - causes, symptoms, diagnosis, treatment, pathology
(Osmosis)
6. Pulmonary Arterial Hypertension in Scleroderma, Soumya Chatterjee, MD, MS
(National Scleroderma Foundation)

Top Articles

Latest Posts

Article information

Author: Carlyn Walter

Last Updated: 01/20/2023

Views: 6633

Rating: 5 / 5 (70 voted)

Reviews: 93% of readers found this page helpful

Author information

Name: Carlyn Walter

Birthday: 1996-01-03

Address: Suite 452 40815 Denyse Extensions, Sengermouth, OR 42374

Phone: +8501809515404

Job: Manufacturing Technician

Hobby: Table tennis, Archery, Vacation, Metal detecting, Yo-yoing, Crocheting, Creative writing

Introduction: My name is Carlyn Walter, I am a lively, glamorous, healthy, clean, powerful, calm, combative person who loves writing and wants to share my knowledge and understanding with you.