Overview
What is Scleroderma?
Scleroderma is a rare autoimmune disease in which the body’s immune system attacks healthy tissues. This leads to the replacement of normal connective tissue in the skin, lungs, and internal organs (such as the esophagus, kidneys, and digestive tract) with scar tissue. This condition causes the tissues to become stiff and the muscles to not function as well.
Scleroderma can make it:
- Easier for stomach acid to enter the esophagus, as the lower esophageal sphincter may not close tightly.
- Harder for stomach contents to move out of the esophagus due to impaired peristalsis.
Scleroderma causes widespread hardening of the skin, especially on the hands and face, and can damage the lungs, heart, kidneys, digestive tract, muscles, and joints. It is a chronic autoimmune disorder, also known as progressive systemic sclerosis.
Types of Scleroderma
Scleroderma is categorized into two main types:
Localized Scleroderma (Morphoea)
- Plaque Morphoea: Common in adults, causing discolored oval patches on the skin.
- Linear Morphoea: Affects children more commonly, causing thickened skin along the arms, legs, forehead, and scalp.
Systemic Sclerosis
- Limited Cutaneous Systemic Sclerosis: Affects the skin on the hands, lower arms, feet, lower legs, and face, and can extend to the lungs and digestive system.
- Diffuse Systemic Sclerosis: Causes widespread skin changes and is more likely to affect internal organs.
Causes
What Causes Scleroderma?
Scleroderma occurs when the body produces too much collagen, which builds up in tissues. Collagen is a protein that forms connective tissues, including the skin. While the exact cause is unknown, several factors are believed to contribute to its development:
- Genetics: Certain genetic changes may increase the likelihood of developing scleroderma.
- Environmental Triggers: Exposure to certain viruses, medications, or chemicals may trigger scleroderma symptoms.
- Immune System Conditions: Scleroderma is an autoimmune disease where the immune system attacks connective tissues.
Symptoms
Clinical Features of Scleroderma
Scleroderma can cause scarring and damage to the skin, joints, and internal organs. Symptoms vary widely among individuals and can include:
- Skin Symptoms: Hardening and thickening of the skin, especially on the fingers, hands, feet, and face. Skin may become shiny, lighter or darker, and small red spots (telangiectasia) can appear.
- Raynaud’s Phenomenon: Blood vessels in the fingers, toes, nose, and ears constrict in response to cold or stress, causing them to turn white or blue and become numb.
- Digestive Symptoms: Heartburn, difficulty swallowing, bloating, diarrhea, constipation, and fecal incontinence.
- Heart and Lung Symptoms: Shortness of breath, decreased exercise tolerance, dizziness, and irregular heartbeats.
- Kidney Symptoms: High blood pressure and rapid kidney failure (scleroderma renal crisis).
- Joint and Muscle Symptoms: Joint pain, stiffness, muscle weakness, and limited joint motion.
Diagnosis
How is Scleroderma Diagnosed?
Diagnosis involves a physical examination, medical history, and various tests. These may include:
- Blood Tests: To detect specific autoantibodies.
- Skin Biopsy: A small sample of skin is examined in a laboratory.
- Imaging Tests: Chest X-rays and other scans to assess internal organ involvement.
Treatment
Treating Scleroderma
There is no single cure for scleroderma, and treatment varies based on the affected organs, the severity of the condition, and patient preferences. Common treatments include:
Medications:
- Immunosuppressants: Mycophenolate mofetil, methotrexate, and cyclophosphamide help reduce immune system activity.
- Glucocorticoids: Reduce inflammation but can have serious side effects.
- NSAIDs: Relieves joint and tendon inflammation.
- Diuretics: Help reduce swelling by promoting urine production.
- Heartburn Medications: Omeprazole and related drugs alleviate heartburn.
- Pulmonary Hypertension Medications: Bosentan, sildenafil, and other drugs improve symptoms.
- ACE Inhibitors: Manage high blood pressure and kidney disease.
- Calcium-Channel Blockers: Improve Raynaud’s phenomenon symptoms.
Therapies:
- Physical Therapy and Exercise: Maintain muscle flexibility and joint mobility.
- Skin Care: Regular moisturizing to keep skin supple and relieve itching.
- Occupational Therapy: Adaptations to assist with daily activities.
Lifestyle Changes:
- Warm Clothing: To manage Raynaud’s phenomenon.
- Healthy Diet and Exercise: Control blood pressure and improve circulation.
- Smoking Cessation: Essential to improve blood circulation and overall health.
Surgical Interventions:
- Skin Grafts and Flaps: To replace scarred skin and improve function.
- Laser Therapy and Photodynamic Therapy: Emerging treatments for skin symptoms.
Complications
Potential Complications of Scleroderma
Scleroderma complications can range from mild to severe and include:
- Fingertips: Severe Raynaud’s phenomenon can cause tissue damage and ulcers.
- Lungs: Scarring leads to breathing difficulties and decreased exercise tolerance.
- Kidneys: Scleroderma renal crisis causes rapid kidney failure.
- Heart: Increased risk of heart failure and irregular heartbeats.
- Teeth: Tightening facial skin makes oral hygiene challenging, increasing the risk of dental decay.
- Digestive System: Heartburn, difficulty swallowing, and other gastrointestinal issues.
- Joints: Tight skin over joints restricts movement.
Prognosis
While many people with scleroderma live long lives, the disease can increase mortality rates, especially in diffuse disease and pulmonary hypertension cases. Advances in treatments are improving longevity, but predicting individual outcomes remains challenging due to the disease’s variability.
References
DermNet NZ. (n.d.). Scleroderma. Retrieved from https://dermnetnz.org/topics/scleroderma
Stanford Health Care. (n.d.). Scleroderma. Retrieved from https://stanfordhealthcare.org/medical-conditions/skin-hair-and-nails/scleroderma.html
Harvard Health Publishing. (n.d.). Scleroderma. Retrieved from https://www.health.harvard.edu/a_to_z/scleroderma-a-to-z
Mayo Clinic. (n.d.). Scleroderma: Overview. Retrieved from https://www.mayoclinic.org/diseases-conditions/scleroderma/symptoms-causes/syc-20351952
NHS. (n.d.). Scleroderma. Retrieved from https://www.nhs.uk/conditions/scleroderma/
