What is Scleroderma? Understanding the Hardening of Skin and Connective Tissues

Scleroderma, also known as systemic sclerosis, refers to a group of rare chronic autoimmune diseases that are characterized by the abnormal hardening and tightening of the skin and connective tissues. This condition can also affect blood vessels, internal organs, and the digestive system. The term “scleroderma” itself originates from Greek words “sclero” meaning hard, and “derma” meaning skin.

While there is currently no known cure for scleroderma, various treatments are available to effectively manage symptoms, slow down the disease’s progression, and significantly improve the patient’s quality of life.

Types of Scleroderma

Scleroderma is broadly classified into different types based on the extent of skin involvement and the organs affected. The two primary categories are:

Limited Scleroderma: This type, previously known as CREST syndrome, typically affects the skin of the fingers, hands, face, and sometimes the lower arms and legs. CREST is an acronym representing some common features: Calcinosis (calcium deposits in the skin), Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly (thickening and tightening of the skin on the fingers and hands), and Telangiectasia (small red spots on the skin). However, limited scleroderma can also affect internal organs over time, although often less severely and more slowly than diffuse scleroderma.
Diffuse Scleroderma: This type is characterized by more widespread skin thickening, affecting not only the hands, face, and feet but also the trunk and upper arms and legs. Diffuse scleroderma tends to develop more rapidly than limited scleroderma and has a higher risk of affecting internal organs early in the disease course, including the lungs, heart, kidneys, and gastrointestinal tract.
Localized Scleroderma: This form, also known as morphea or linear scleroderma, primarily affects the skin but generally does not involve internal organs. Localized scleroderma is often seen in children and can manifest as patches of hardened skin (morphea) or streaks of thickened skin (linear scleroderma). While typically less severe than systemic forms, localized scleroderma can still cause significant skin disfigurement and functional problems, especially if it affects joints or is extensive.

It’s important to note that this classification focuses on skin involvement, but both limited and diffuse scleroderma can lead to vascular and organ complications.

Symptoms of Scleroderma

The symptoms of scleroderma are highly variable, differing significantly from person to person depending on the specific areas of the body affected. However, some common symptoms include:

Skin Symptoms

Skin changes are a hallmark of scleroderma, affecting nearly everyone with the condition.

Skin Hardening and Tightening: This is the most recognizable symptom. It often starts in the fingers, hands, feet, and face. In more widespread cases, it can extend to the forearms, upper arms, chest, abdomen, lower legs, and thighs.
Early Skin Changes: Initial symptoms may include swelling, puffiness, and itching of the skin.
Skin Color Changes: Affected skin can become lighter or darker than the surrounding skin.
Shiny Skin: The skin may appear glossy and shiny due to the tightness and smoothing of the skin surface.
Telangiectasia: Small, dilated red blood vessels may appear as tiny red spots on the hands and face.
Calcinosis: Calcium deposits can form under the skin, particularly at the fingertips, appearing as small, hard bumps. These deposits can sometimes be painful or ulcerate.

Raynaud’s Phenomenon

Raynaud’s phenomenon is extremely common in people with scleroderma, affecting a vast majority.

Exaggerated Response to Cold or Stress: Raynaud’s is triggered by cold temperatures or emotional stress, causing the small blood vessels in the fingers and toes to spasm and narrow.
Color Changes in Fingers and Toes: During an episode, the fingers and toes may turn white, then blue, and finally red as blood flow returns.
Pain and Numbness: Raynaud’s attacks can cause pain, numbness, tingling, and coldness in the affected digits.
Beyond Scleroderma: While common in scleroderma, Raynaud’s phenomenon can also occur as a primary condition in people without scleroderma or other underlying diseases.

Digestive System Symptoms

Scleroderma can impact any part of the digestive tract, from the esophagus to the rectum. The symptoms depend on the specific area affected:

Heartburn: Acid reflux is common due to esophageal dysfunction. Scleroderma can reduce the function of the lower esophageal sphincter, allowing stomach acid to back up into the esophagus.
Difficulty Swallowing (Dysphagia): The esophagus can lose its ability to propel food effectively, leading to difficulty swallowing, especially solids.
Bloating and Abdominal Discomfort: Reduced motility in the stomach and intestines can lead to bloating, gas, and abdominal pain.
Diarrhea and Constipation: Scleroderma can affect the muscles of the intestines, leading to alternating diarrhea and constipation, or either symptom predominantly.
Fecal Incontinence: In some cases, scleroderma can affect the muscles of the rectum and anus, leading to difficulty controlling bowel movements.

Heart and Lung Symptoms

When scleroderma affects the heart and lungs, it can lead to serious complications:

Shortness of Breath (Dyspnea): Lung involvement is a significant complication. Scleroderma can cause interstitial lung disease, where scarring (fibrosis) develops in the lung tissues, making it harder to breathe.
Decreased Exercise Tolerance: Shortness of breath and lung dysfunction can limit physical activity.
Dizziness: Heart and lung involvement can affect blood flow and oxygenation, leading to dizziness.
Pulmonary Hypertension: Scleroderma can cause pulmonary arterial hypertension, a condition of high blood pressure in the arteries of the lungs. This can lead to further shortness of breath, fatigue, chest pain, and fluid retention in the legs and ankles.
Irregular Heartbeats (Arrhythmias): Scleroderma can affect the heart’s electrical system, leading to various arrhythmias.
Heart Failure: In severe cases, scleroderma can damage the heart muscle, leading to heart failure, where the heart cannot pump enough blood to meet the body’s needs.

Causes of Scleroderma

Scleroderma arises from an overproduction and accumulation of collagen in the body’s tissues. Collagen is a vital protein that forms the structural framework of connective tissues, including the skin. In scleroderma, the normal process of collagen production goes awry, resulting in excessive collagen buildup.

The exact trigger for this abnormal collagen production is not fully understood. However, it is believed to involve a complex interplay of factors, including:

Immune System Dysfunction: Scleroderma is considered an autoimmune disease, where the body’s immune system mistakenly attacks its own healthy tissues. In scleroderma, the immune system appears to target connective tissues, stimulating cells called fibroblasts to produce excessive collagen.
Genetic Predisposition: Genetic factors likely play a role in susceptibility to scleroderma. Certain gene variations may increase the risk of developing the disease. This may explain why scleroderma sometimes runs in families and is more prevalent in certain ethnic groups.
Environmental Triggers: Environmental factors are also suspected of playing a role in triggering scleroderma in genetically susceptible individuals. Potential triggers under investigation include:
- Viral Infections: Certain viral infections have been suggested as possible triggers, although no specific virus has been definitively linked.
- Medications and Drugs: Some medications and drugs have been associated with scleroderma-like conditions in rare cases.
- Chemical Exposures: Occupational or environmental exposure to certain substances, such as silica dust, organic solvents, and epoxy resins, has been linked to an increased risk of scleroderma in some studies. However, for most individuals with scleroderma, no specific environmental trigger is identified.

Risk Factors for Scleroderma

While anyone can develop scleroderma, certain factors increase the likelihood:

Sex: Scleroderma is significantly more common in women than men.
Age: The typical age of onset is between 30 and 50 years old, although it can occur at any age.
Race and Ethnicity: While scleroderma affects people of all races and ethnicities, it is observed to be more common and often more severe in Black people. Black individuals may experience earlier onset, more extensive skin involvement, and a higher risk of lung disease.
Family History: Having a family member with scleroderma or another autoimmune disease may slightly increase the risk.
Certain Autoimmune Conditions: Individuals with other autoimmune diseases, such as rheumatoid arthritis, lupus, or Sjogren’s syndrome, have a higher chance of developing scleroderma.

Complications of Scleroderma

Scleroderma can lead to a range of complications, varying in severity from mild to life-threatening, depending on the organs affected.

Fingertip Damage: Severe Raynaud’s phenomenon in systemic sclerosis can restrict blood flow to the fingertips, leading to tissue damage, pits, skin ulcers, and in extreme cases, tissue death (digital gangrene).
Lung Disease: Pulmonary fibrosis (scarring of lung tissue) is a serious complication that can cause progressive shortness of breath and reduced exercise capacity. Pulmonary hypertension also poses a significant risk.
Kidney Problems: Scleroderma renal crisis is a severe and potentially life-threatening kidney complication characterized by a sudden rise in blood pressure and rapid kidney failure. Prompt treatment is crucial to prevent permanent kidney damage.
Heart Problems: Scarring of heart tissue can lead to arrhythmias and heart failure. Pericarditis, inflammation of the sac surrounding the heart, can also occur.
Dental Issues: Tightening of facial skin can restrict mouth opening, making oral hygiene difficult and increasing the risk of tooth decay, especially as saliva production may also be reduced.
Digestive Problems: Beyond heartburn and swallowing difficulties, scleroderma can cause impaired nutrient absorption due to bacterial overgrowth in the small intestine, leading to malnutrition. It can also cause severe constipation, diarrhea, bloating, and cramps.
Joint Pain and Contractures: Skin tightening over joints can limit flexibility and range of motion, particularly in the hands, leading to joint pain and contractures (permanent joint stiffness).

Scleroderma is a complex and challenging condition. Early diagnosis and comprehensive medical management are crucial for managing symptoms, preventing complications, and improving the long-term outlook for individuals living with scleroderma. If you are experiencing symptoms suggestive of scleroderma, it is important to consult a healthcare professional for proper evaluation and guidance.