Published: 18 Jun 2025

ICD9: 710.1      ICD10: M34.9      ICD11: 4A42.Z

Systemic sclerosis, also known as scleroderma, is a chronic autoimmune disease characterized by hardening and tightening of the skin and connective tissues.
The word "scleroderma" literally means "hard skin." However, systemic sclerosis can affect many parts of the body beyond the skin, including blood vessels, internal organs, and the digestive system.

Here's a breakdown of key aspects:

Key Features:

Overproduction of Collagen: The hallmark of scleroderma is the overproduction and accumulation of collagen, a protein that forms the structural framework of tissues. This excess collagen leads to thickening and hardening.
Autoimmune Nature: The disease involves the immune system mistakenly attacking healthy tissues in the body.
Vascular Damage: Scleroderma often affects blood vessels, leading to Raynaud's phenomenon (see below) and potentially affecting organ function.

Types of Scleroderma:

Localized Scleroderma: This type primarily affects the skin and underlying tissues. It usually does not involve internal organs. Two main subtypes are:
*Morphea:* Characterized by oval-shaped patches of hardened skin.
*Linear Scleroderma:* Involves streaks of hardened skin, often on the arms or legs. Can sometimes affect deeper tissues.
Systemic Sclerosis (Scleroderma): This form affects the skin, blood vessels, and internal organs. There are two main subtypes:
*Limited Cutaneous Systemic Sclerosis (lcSSc):* Also known as CREST syndrome (Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly, Telangiectasia). Skin involvement is typically limited to the hands, face, and feet. Progression is often slower, but internal organ involvement, particularly pulmonary hypertension, can still occur.
*Diffuse Cutaneous Systemic Sclerosis (dcSSc):* Skin thickening is more widespread, affecting the trunk and upper arms and legs. It tends to progress more rapidly and has a higher risk of affecting internal organs early in the disease course.

Common Symptoms:

Skin Changes:
Thickening and hardening of the skin
Tightness and shiny appearance
Skin discoloration (patches of lighter or darker skin)
Swelling of the fingers and hands
Raynaud's Phenomenon: Fingers and toes turn white or blue in response to cold or stress due to blood vessel constriction. This is often one of the first symptoms.
Swallowing Problems: Difficulty swallowing (dysphagia) due to esophageal dysfunction.
Heartburn and Acid Reflux: Weakening of the lower esophageal sphincter can lead to acid reflux.
Joint Pain and Stiffness: Arthritis-like symptoms.
Muscle Weakness:
Shortness of Breath: Can be caused by lung involvement (pulmonary fibrosis or pulmonary hypertension).
Fatigue:
Calcinosis: Calcium deposits under the skin, often in the fingers.
Telangiectasia: Small, dilated blood vessels visible on the skin, especially on the face and hands.

Causes:

The exact cause of scleroderma is unknown. It's likely a combination of genetic predisposition, environmental triggers, and immune system abnormalities. Risk factors may include:

Genetics: While not directly inherited, certain genes may increase susceptibility.
Environmental Factors: Exposure to certain substances, such as silica dust or organic solvents, has been linked to scleroderma in some cases.
Immune System Dysfunction: The autoimmune nature of the disease is central, but the specific triggers that initiate the immune response are not fully understood.

Diagnosis:

Diagnosis typically involves:

Physical Exam: Assessment of skin changes and other symptoms.
Blood Tests: To look for specific antibodies (e.g., anti-centromere antibody, anti-Scl-70 antibody) that are commonly found in people with scleroderma. Also used to assess organ function.
Skin Biopsy: A small sample of skin is examined under a microscope.
Other Tests: Depending on the symptoms, other tests may be performed to assess lung function (pulmonary function tests), heart function (echocardiogram), and gastrointestinal function (esophageal manometry). A capillaroscopy can be performed to assess for characteristic changes in the small blood vessels around the nail fold.

Treatment:

There is no cure for scleroderma, but treatment can help manage symptoms, slow the progression of the disease, and prevent complications. Treatment is tailored to the individual and depends on the specific symptoms and organs affected. Common treatments include:

Medications to Suppress the Immune System: Such as methotrexate, mycophenolate mofetil, or cyclophosphamide.
Medications to Improve Blood Flow: Such as calcium channel blockers for Raynaud's phenomenon. Also, medications for pulmonary hypertension.
Medications to Treat Heartburn and Reflux: Such as proton pump inhibitors (PPIs).
Physical Therapy: To help maintain range of motion and strength.
Occupational Therapy: To learn strategies to manage daily activities.
Skin Care: Moisturizers to keep the skin hydrated.
Surgery: In rare cases, surgery may be needed to treat severe complications.

Prognosis:

The prognosis for people with scleroderma varies widely, depending on the type of scleroderma, the extent of organ involvement, and the response to treatment. Some people have mild symptoms and a slow progression, while others experience more severe disease with significant organ damage. Early diagnosis and treatment can help improve the long-term outlook.

Important Considerations:

Scleroderma is a complex and heterogeneous disease.
It is important to seek care from a rheumatologist or other specialist experienced in treating scleroderma.
Support groups and patient advocacy organizations can provide valuable information and support.
Research is ongoing to find new and better treatments for scleroderma.

This information is for general knowledge and informational purposes only, and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.