Everything You Need to Know About Scleroderma

What is Scleroderma?

Scleroderma, also known as systemic sclerosis, is a chronic autoimmune disease characterized by hardening and tightening of the skin and connective tissues. The term "scleroderma" comes from the Greek words "sclero" (hard) and "derma" (skin), indicating one of its primary symptoms—thickened skin.

Scleroderma occurs when the immune system mistakenly attacks the body's own tissues, leading to an overproduction of collagen, a protein that forms connective tissues.

Two Types of Scleroderma

There are two main types of scleroderma - localized and systemic. 

Localized Scleroderma affects only the skin and sometimes the muscles and bones beneath it. This type of scleroderma does not affect internal organs and is further divided into subtypes such as morphea (patches of thickened skin) and linear scleroderma (streaks or lines of thickened skin).

Systemic Scleroderma (also known as Systemic Sclerosis), affects not only the skin but may also involve internal organs like the heart, lungs, kidneys and gastrointestinal tract. Systemic scleroderma can be further classified as limited cutaneous systemic sclerosis (affecting the skin of the face, hands, and feet) and diffuse cutaneous systemic sclerosis (affecting a larger area of the skin and more likely to involve internal organs).

Who is Affected by Scleroderma?

Scleroderma is a rare autoimmune disease affecting less than 125,000 people in the United States.
The majority of people diagnosed with scleroderma are women in between the ages of 30 and 50 and women are 4 times more likely to be diagnosed than men. While not super common, localized scleroderma may be seen in children as young as 7 to 10 years old. 

Race and Ethnicity & Scleroderma

Scleroderma affects people of different races differently.. 

• African Americans: More likely to develop systemic sclerosis and tend to have a more severe form of the disease with a higher incidence of lung involvement.
• Native Americans: Higher prevalence in certain groups, such as the Choctaw tribe in Oklahoma.
• Caucasians: Although scleroderma can affect any race, it is most commonly diagnosed in Caucasians.

Most Common Symptoms of Scleroderma

Scleroderma symptoms vary based on the type of Scleroderma.

Localized Scleroderma

1. Morphea:

   • Patches of thickened, hard skin that may be oval-shaped and range in color from white to dark brown
   • Possible itching or discomfort in the affected areas

2. Linear Scleroderma:

   • Streaks or lines of thickened skin, typically on the arms, legs, or forehead
   • Can sometimes affect the underlying muscle and bone

Systemic Scleroderma (Systemic Sclerosis)

1. Skin Symptoms:

   • Thickening and tightening of the skin, often starting on the fingers and hands (sclerodactyly).
   • Shiny, tight, or waxy skin appearance
   • Reduced mobility in affected areas due to skin stiffness

2. Raynaud's Phenomenon:

   • Color changes in the fingers and toes in response to cold or stress (white, blue, then red)
   • Numbness, pain, or tingling in affected areas

3. Joint and Muscle Symptoms:

   • Joint pain and stiffness
   • Swelling in fingers and joints
   • Muscle weakness

4. Gastrointestinal Symptoms:

   • Difficulty swallowing (dysphagia)
   • Acid reflux and heartburn
   • Bloating, constipation or diarrhea

5. Lung Symptoms:

   • Shortness of breath
   • Dry cough
   • Pulmonary fibrosis (scarring of lung tissue), which can lead to reduced lung function

6. Heart Symptoms:

   • Irregular heartbeats (arrhythmias)
   • Inflammation of the heart lining (pericarditis)
   • Heart failure in severe cases

7. Kidney Symptoms:

   • High blood pressure (hypertension)
   • Kidney crisis, which can lead to kidney failure if not treated promptly

Other Symptoms:

• Fatigue and general malaise
• Weight loss
• Decreased mouth opening (microstomia) due to skin tightening around the face

Cause of Scleroderma

The exact cause is unknown, but it is believed to result from a combination of genetic predisposition and environmental factors, such as exposure to certain chemicals or viruses.

Scleroderma may be seen as a comorbidity to other autoimmune diseases like Systemic Lupus Erythematosus, Sjögren's Syndrome and Rheumatoid Arthritis.

Diagnosis and Treatment

Diagnosing Scleroderma typically involves a combination of clinical evaluation, medical history, blood tests for specific antibodies, imaging studies and skin biopsies.

Some of the blood tests your doctor might run when testing for scleroderma include, but are not limited to:

• Anti-nuclear antibodies (ANA)
• Anti-Scl-70 (Topoisomerase I Antibody)
• Anti-Centromere Antibody (ACA)
• Anti-RNA Polymerase III Antibody
• Anti-U3-RNP (Fibrillarin)
• Anti-Th/To Antibody
• Comprehensive Metabolic Panel (CMP)
• Complete Blood Count (CBC)
• Erythrocyte Sedimentation Rate (ESR) and C-Reactive Protein (CRP)

There is no cure for either type of Scleroderma, but treatments aim to manage symptoms, slow down disease progression and prevent complications. Options include immunosuppressive drugs, anti-inflammatory medications, physical therapy and lifestyle changes to protect the skin and manage Raynaud's phenomenon. Scleroderma's severity and progression can vary widely from person to person, making individualized treatment plans crucial.

Life Expectancy With Scleroderma

The life expectancy of someone living with Scleroderma varies greatly depending on a number of factors including the type and severity of Scleroderma and if there's any organ involvement. 

People with localized scleroderma usually have a normal lifespan. For those diagnosed with systemic sclerosis (also known as diffuse), the 5 year survival rate is approximately 84%. For those diagnosed with systemic sclerosis, it's extremely important to seek treatment as early as possible for the best outcome.