Fast facts

  • Scleroderma is a rare, chronic skin condition.

  • The condition is caused by excessive collagen building up in the skin and the body's tissues.

  • Women between the ages of 35-55 years are the ones most commonly affected by scleroderma.

  • Typical signs and symptoms of scleroderma include hard, thick,  tight or shiny skin, Raynaud's phenomenon, stiff or painful joints, and small white lumps under the skin of the fingers.

  • There is currently no cure for scleroderma, but treatment can make a significant difference to your health and quality of life.

Chronic

A long-lasting persistent or recurring medical condition.

Collagen

A protein that is the main component of various connective tissues.

Joints

A connecting surface or tissue between two bones.

What is scleroderma?

Scleroderma, also known as systemic sclerosis, is a rare chronic condition that affects the skin and other organs of the body. It is more common in women between the ages of 35-55 years, but it can also develop in children.

Chronic

A long-lasting persistent or recurring medical condition.

Causes

Scleroderma is caused by an autoimmune reaction. In a healthy immune system, specific immune cells are deployed to fight off infection. During an autoimmune reaction, the immune system mistakenly attacks healthy tissues.

Collagen is a protein that gives structural support and strength to the skin and to most tissues in the body. In scleroderma, the damage caused by the autoimmune reaction causes the body to produce too much collagen. The excess collagen builds up in the skin and organs, leading them to become thickened and hard.

Cells

The fundamental unit of life; the simplest living unit that can exist, grow, and reproduce independently. The human body is composed of trillions of cells of many kinds.

Collagen

A protein that is the main component of various connective tissues.

Infection

Entry into the body of microorganisms that can reproduce and cause disease.

Risk factors

Risk factors for developing scleroderma include:

  • The condition is most common is women between 35-55 years of age;
  • Genetic factors;
  • Exposure to infections, such as the Epstein-Barr virus, which are thought to trigger an already susceptible person into developing scleroderma, [1] and;
  • Exposure to environmental triggers, including certain coatings and adhesive materials.

Epstein-Barr virus

A virus of the herpes family that causes mononucleosis, also known as mono or glandular fever. It is also implicated in some other medical conditions.

1. Farina, A., Cirone, M., York, M. et al. (2014) Epstein–Barr virus infection induces aberrant TLR activation pathway and fibroblast–myofibroblast conversion in scleroderma. Journal of Investigative Dermatology 134:954–64. doi:10.1038/jid.2013.423.

Types

There are two main types of scleroderma - localized scleroderma, which affects only the skin, and systemic scleroderma, which can affect the skin as well as internal organs including the digestive system, heart, lungs, kidneys, blood vessels, muscles and joints.

Joints

A connecting surface or tissue between two bones.

Lungs

The pair of organs in the chest responsible for breathing.

1. Farina, A., Cirone, M., York, M. et al. (2014) Epstein–Barr virus infection induces aberrant TLR activation pathway and fibroblast–myofibroblast conversion in scleroderma. Journal of Investigative Dermatology 134:954–64. doi:10.1038/jid.2013.423.

Signs and symptoms

Signs and symptoms of scleroderma can vary, depending on whether it is localized or systemic. The symptoms can include:

  • Hardening or thickening of the skin. The name 'Scleroderma' literally translates to mean 'hard skin';
  • Patches of tight, shiny skin;
  • Raynaud's phenomenon, which involves the fingers and toes turning either white or blue-purple due to cold temperatures or emotional stress. This is due to the constriction of blood vessels, which can also result in numbness and ulcers on the fingertips;
  • Stiffening or pain of joints, such as in the fingers, due to tightness of the skin;
  • Calcinosis: calcium deposits that appear as small white lumps under the skin of the fingers;
  • Difficulty swallowing, indigestion, heartburn, bloating or diarrhea, and;
  • In some cases, heart, lung and kidney functions can be affected.

Calcium

A chemical element, important for many biological functions. Particularly central to maintaining bone and tooth health.

Indigestion

Stomach pain or discomfort caused by difficulties digesting food.

Joints

A connecting surface or tissue between two bones.

Kidney

A pair of organs responsible primarily for regulating the water balance in the body and filtering the blood.

Ulcers

An open sore in the skin or mucous membranes such as those of the stomach lining, intestine or mouth.

1. Farina, A., Cirone, M., York, M. et al. (2014) Epstein–Barr virus infection induces aberrant TLR activation pathway and fibroblast–myofibroblast conversion in scleroderma. Journal of Investigative Dermatology 134:954–64. doi:10.1038/jid.2013.423.

Methods for diagnosis

Scleroderma can develop slowly over time and appear in different forms, which can make it difficult to diagnose. A physical examination and a variety of tests may be required to make a diagnosis. Tests can include:

  • A physical examination of fingernails under a microscope to look for changes in small blood vessels, called capillaries, that can show signs of scleroderma;
  • Blood tests;
  • Kidney function tests to assess the impact of scleroderma on the kidneys;
  • A skin biopsy to look for skin changes related to scleroderma;
  • An X-ray of the hands to identify calcinosis;
  • Lung function tests to assess the lungs;
  • A computerized tomography (CT) scan can be used to evaluate any lung damage due to scleroderma;
  • Electrocardiography and echocardiography can be performed to assess the heart function, as scleroderma can reduce the electrical activity of the heart and lead to heart failure, and;
  • An endoscopy can be performed to see if the esophagus and intestines have been affected by scleroderma.

Blood tests

During a blood test, blood can be drawn using a needle or by a finger prick. Your blood can then be analyzed to help diagnose and monitor a wide range of health conditions.

Computerized tomography

A scan that uses X-rays to create a 3D image of the body. This can detect abnormalities more effectively than a simple X-ray can.

Echocardiography

The procedure in which ultrasound waves are used to create an image of the heart, to allow assessment of the heart's function as it beats.

Endoscopy

This test involves inserting a thin, flexible, lit tube (endoscope) into the intestines, via the rectum or the throat.

Intestines

The part of the digestive system from the stomach to the anus.

Kidney

A pair of organs responsible primarily for regulating the water balance in the body and filtering the blood.

Lungs

The pair of organs in the chest responsible for breathing.

Esophagus

Also called the gullet or food pipe, it is the muscular tube connecting the throat and stomach. It is lined with a mucous membrane. After ingestion, food and drink travel down the esophagus to be digested in the stomach.

X-ray

A scan that uses ionizing radiation beams to create an image of the body’s internal structures.

Lung function tests

Tests used to determine breathing function by measuring lung airflow rates, capacity and volume. Also known as pulmonary function test.

1. Farina, A., Cirone, M., York, M. et al. (2014) Epstein–Barr virus infection induces aberrant TLR activation pathway and fibroblast–myofibroblast conversion in scleroderma. Journal of Investigative Dermatology 134:954–64. doi:10.1038/jid.2013.423.

Types of treatment

Scleroderma can be treated, but not cured. Treatment aims to reduce the symptoms, slow its progression and treat any complications as early as possible to limit any disability. Some treatment techniques include:

  • Moisturizing dry and tight skin;
  • Stretching exercises to increase skin elasticity;
  • Keeping hands warm to reduce the symptoms of Raynaud's phenomenon;
  • Physiotherapy to maintain joint mobility and muscle strength;
  • Occupational therapy to assist with daily tasks;
  • Antibiotic ointment to prevent bacterial infection of any skin ulcers;
  • Medications to reduce heartburn, such as omeprazole;
  • Medications to suppress the over-active immune system. Some medications that may be prescribed include steroids, methotrexate and cyclophosphamide;
  • Regular monitoring of blood pressure, and;
  • Surgical removal of calcium deposits.

Antibiotic

Chemical substances that kill or suppress the growth of bacteria.

Blood pressure

The pressure the blood places on the walls of the arteries, largely mirroring the contraction of the heart, and consisting of two readings. The higher reading is systolic blood pressure, when the heart contracts, and the lower is diastolic blood pressure, when the heart is relaxed.

Calcium

A chemical element, important for many biological functions. Particularly central to maintaining bone and tooth health.

Infection

Entry into the body of microorganisms that can reproduce and cause disease.

Occupational therapy

Therapy that uses self-care, work and play activities to increase development and independent function and to prevent disability.

Physiotherapy

A healthcare profession that treats bodily weaknesses or defects with physical remedies, such as massage or exercise.

Ulcers

An open sore in the skin or mucous membranes such as those of the stomach lining, intestine or mouth.

1. Farina, A., Cirone, M., York, M. et al. (2014) Epstein–Barr virus infection induces aberrant TLR activation pathway and fibroblast–myofibroblast conversion in scleroderma. Journal of Investigative Dermatology 134:954–64. doi:10.1038/jid.2013.423.

Potential complications

Scleroderma can vary in degrees of severity and can have multiple complications. These can include:

  • Finger ulcers due to Raynaud's phenomenon;
  • High blood pressure in the lungs (pulmonary arterial hypertension);
  • Pulmonary fibrosis, caused by scarring of the lung tissue. It can result in breathing difficulties;
  • Heart complications including pericarditis (inflammation of the sac that surrounds the heart), and heart failure;
  • Acute kidney disease;
  • Teeth complications, which can be a result of skin tightening around the mouth and which can cause difficulty with tooth brushing. There may also be a reduced amount of saliva, which can lead to an increase in tooth decay, and;
  • Sexual dysfunction, which can involve erectile dysfunction in men and vaginal dryness in women.

Blood pressure

The pressure the blood places on the walls of the arteries, largely mirroring the contraction of the heart, and consisting of two readings. The higher reading is systolic blood pressure, when the heart contracts, and the lower is diastolic blood pressure, when the heart is relaxed.

Kidney

A pair of organs responsible primarily for regulating the water balance in the body and filtering the blood.

Lungs

The pair of organs in the chest responsible for breathing.

Pulmonary fibrosis

A respiratory disease in which scar tissue forms in the lung tissues, sometimes as a result of other lung diseases.

Sexual dysfunction

Any abnormal difficulty that interferes with the sexual response or sexual activity of an individual or a couple.

Ulcers

An open sore in the skin or mucous membranes such as those of the stomach lining, intestine or mouth.

1. Farina, A., Cirone, M., York, M. et al. (2014) Epstein–Barr virus infection induces aberrant TLR activation pathway and fibroblast–myofibroblast conversion in scleroderma. Journal of Investigative Dermatology 134:954–64. doi:10.1038/jid.2013.423.

Prognosis

The long-term outcomes of scleroderma depend on the how the internal organs are affected.

Although there is no cure for scleroderma, regularly monitoring your symptoms and a timely use of treatments can make a significant difference to your health and  quality of life.

1. Farina, A., Cirone, M., York, M. et al. (2014) Epstein–Barr virus infection induces aberrant TLR activation pathway and fibroblast–myofibroblast conversion in scleroderma. Journal of Investigative Dermatology 134:954–64. doi:10.1038/jid.2013.423.

Prevention

There is currently no definitive way to prevent scleroderma.

1. Farina, A., Cirone, M., York, M. et al. (2014) Epstein–Barr virus infection induces aberrant TLR activation pathway and fibroblast–myofibroblast conversion in scleroderma. Journal of Investigative Dermatology 134:954–64. doi:10.1038/jid.2013.423.