Systemic sclerosis, also known as scleroderma, is a rare autoimmune disease characterized by the hardening and tightening of the skin and connective tissues. It occurs when the body’s immune system causes excessive collagen production, leading to thickening and scarring of the skin as well as damage to internal organs like the lungs, heart, kidneys, and digestive tract. Symptoms vary but often include skin stiffness, Raynaud’s phenomenon (fingers turning white or blue in cold), joint pain, and difficulty swallowing. Systemic sclerosis can be limited to the skin or involve internal organs, making early diagnosis and management important to control symptoms and prevent complications.
The exact cause of systemic sclerosis (scleroderma) is not fully understood. It is an autoimmune disease, meaning the body’s immune system mistakenly attacks its own tissues. This immune response leads to overproduction of collagen, a protein that causes thickening and hardening of the skin and connective tissues. Genetic factors, environmental exposures (such as certain chemicals or viruses), and abnormalities in the blood vessels may also contribute to the development of the disease. Although the precise triggers are unknown, a combination of genetic susceptibility and external factors likely plays a role.
Localized scleroderma mainly affects the skin and underlying tissues without involving internal organs. Its symptoms include patches of thickened, hardened skin that may appear shiny or tight. These patches can be lighter or darker than the surrounding skin and often develop on the arms, legs, or trunk. In some cases, the affected skin may become discolored or show a band-like pattern known as morphea. Patients may also experience itching or discomfort in the affected areas. Unlike systemic sclerosis, localized scleroderma usually does not cause widespread symptoms or organ involvement, and its progression is often slower.
Systemic sclerosis, also called systemic scleroderma, is a chronic autoimmune disease that affects the skin and internal organs. It causes abnormal thickening and hardening of connective tissues due to excess collagen production. This can lead to skin tightening, joint stiffness, and damage to organs such as the lungs, heart, kidneys, and digestive system. Symptoms may include Raynaud’s phenomenon (discoloration of fingers and toes), swelling, fatigue, and difficulty swallowing. Systemic sclerosis can vary in severity and requires early diagnosis and ongoing management to control symptoms and prevent complications.
The diagnosis of systemic sclerosis is based on a combination of clinical evaluation, medical history, and specialized tests. A doctor will look for typical signs such as skin thickening, Raynaud’s phenomenon, and symptoms affecting internal organs. Blood tests are done to detect specific autoantibodies like anti-centromere, anti-Scl-70 (topoisomerase), and others, which help confirm the diagnosis and predict disease type and severity. Imaging studies such as echocardiograms, chest X-rays, or high-resolution CT scans assess lung and heart involvement. Sometimes, a skin biopsy may be performed to examine tissue changes. Early diagnosis allows timely treatment to manage symptoms and prevent complications.
There is no cure for systemic sclerosis, but treatment focuses on managing symptoms and preventing complications. Therapy is tailored to the organs affected and the severity of the disease. Common treatments include immunosuppressive medications to reduce the autoimmune response, anti-inflammatory drugs to relieve pain and swelling, and medications to improve blood flow, especially for Raynaud’s phenomenon. Physical therapy can help maintain skin and joint flexibility. In cases where internal organs are involved, specialized treatments may be necessary to protect lung, heart, or kidney function. Regular monitoring by a rheumatologist and other specialists is essential for optimal care.
Raynaud's phenomenon is a condition in which the small blood vessels in the fingers and toes overreact to cold or stress, causing temporary narrowing of the vessels and reduced blood flow. This leads to color changes in the skin—typically turning white, then blue, and finally red as blood flow returns. It may also cause numbness, tingling, or pain in the affected areas. Raynaud's is common in people with systemic sclerosis and other autoimmune diseases. While mild cases can often be managed with lifestyle changes like keeping warm and avoiding stress, more severe cases may require medications to improve blood circulation.
People with Raynaud's phenomenon should avoid cold temperatures as much as possible because cold exposure can trigger an episode. In cold conditions, the small blood vessels in the fingers and toes constrict more than usual, leading to reduced blood flow, which causes the skin to turn white or blue, and may lead to numbness, tingling, or pain. Avoiding the cold—by wearing warm gloves, layered clothing, and keeping the entire body warm—can help prevent these painful attacks and protect the fingers and toes from long-term damage.
In systemic sclerosis, the most common skin problem is skin thickening and tightening, especially on the fingers, hands, face, and forearms. The skin may feel stiff, shiny, or hard, and it can limit movement and flexibility. Other skin-related symptoms include dryness, itching, dark or light patches, and visible small blood vessels (telangiectasias) on the face or hands. Over time, skin over the fingers can become tight enough to cause curling (sclerodactyly) or small ulcers, especially around the fingertips. Good skincare, moisturizing, and medical treatment can help manage these symptoms and prevent complications.
Stiff muscles and joints are common symptoms in systemic sclerosis due to skin tightening, inflammation, and fibrosis (thickening of connective tissue) around the joints. As the skin becomes less flexible, it restricts normal joint movement, leading to stiffness—especially in the hands, fingers, elbows, and knees. Inflammation of the joints and surrounding tissues can also contribute to pain and limited mobility. Over time, without proper treatment, this stiffness may lead to joint contractures or deformities. Regular stretching, physical therapy, and medical treatment can help maintain flexibility and reduce discomfort.
People with systemic sclerosis often face dental problems due to tightening of the skin around the mouth, which can make it difficult to open the mouth fully (a condition called microstomia). This may lead to challenges in brushing, flossing, and receiving dental care. Additionally, dryness of the mouth (xerostomia) caused by reduced saliva production increases the risk of tooth decay, gum disease, and oral infections. Some patients may also experience jaw stiffness or pain. Maintaining good oral hygiene, regular dental check-ups, and using mouth-moisturizing products can help prevent and manage these dental issues.
Gastrointestinal (GI) problems are common in systemic sclerosis and can affect any part of the digestive tract, from the esophagus to the intestines. The most frequent issue is acid reflux or heartburn due to weakening of the esophageal muscles. Patients may also experience difficulty swallowing (dysphagia), bloating, constipation, diarrhea, or unintentional weight loss. In some cases, small intestinal bacterial overgrowth (SIBO) can lead to digestive discomfort and nutrient malabsorption. These symptoms occur because the disease affects the muscles and nerves that control digestion. Proper diet, medications, and regular monitoring by a doctor can help manage these complications effectively.
In systemic sclerosis, the most serious lung complications are interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH). ILD happens when fibrosis (scarring) develops in the lung tissue, leading to shortness of breath, a persistent dry cough, and reduced oxygen transfer. PAH occurs when the small arteries in the lungs stiffen and narrow, causing high blood pressure in the lungs’ vessels; this leads to fatigue, chest pain, dizziness, and eventually heart strain. Early detection through pulmonary function tests, high‑resolution CT scans, and echocardiography is crucial. Treatment may include immunosuppressive drugs (to slow fibrosis), vasodilators (to lower pulmonary pressure), supplemental oxygen, and pulmonary rehabilitation. Regular monitoring by a rheumatologist and pulmonologist helps manage symptoms, slow disease progression, and improve quality of life.
The most serious kidney complication in systemic sclerosis is scleroderma renal crisis (SRC). This condition causes a sudden rise in blood pressure and rapid kidney dysfunction, often within the first few years of the disease. Symptoms may include headache, blurred vision, nausea, decreased urine output, and swelling. If not treated promptly, it can lead to acute kidney failure. Fortunately, with early detection and treatment—especially using ACE inhibitors (a type of blood pressure medicine)—many patients recover kidney function or prevent worsening. Regular monitoring of blood pressure and kidney function is essential in patients with systemic sclerosis to catch problems early and manage them effectively.
Heart involvement in systemic sclerosis can include a range of conditions such as irregular heart rhythms (arrhythmias), pericarditis (inflammation of the lining around the heart), myocardial fibrosis (scarring of heart muscle), and heart failure. Some patients may also develop pulmonary arterial hypertension (PAH), which puts extra strain on the heart and can lead to complications if untreated. Symptoms may include chest pain, shortness of breath, palpitations, and fatigue. Because these heart issues may develop silently, regular monitoring with ECGs, echocardiograms, and other cardiac tests is important. Early detection and proper treatment can help manage symptoms and reduce the risk of serious complications.
Systemic sclerosis can affect anyone, but certain factors increase the risk. It is more common in women, especially between the ages of 30 and 50. People with a family history of autoimmune diseases are at higher risk, although scleroderma itself is not directly inherited. Certain genetic markers, environmental exposures (such as silica dust, solvents, or viral infections), and immune system abnormalities can also contribute. Smokers and those exposed to long-term workplace chemicals may have an increased chance of developing the disease. However, the exact cause is still unknown, and not everyone with risk factors will develop scleroderma.
Localized scleroderma is not life-threatening. However, patients with systemic sclerosis may face serious complications such as kidney disease, pulmonary arterial hypertension (PAH) — which is high blood pressure in the arteries of the lungs — alveolitis (inflammation of the lungs), gastrointestinal (GI) disorders, and heart damage. These complications can be severe and significantly impact the quality of life.
Any woman diagnosed with scleroderma should consult her physician and obstetrician to discuss potential complications related to pregnancy. If the scleroderma is stable, doctors can better assess whether her body is ready to safely manage pregnancy and childbirth. The risk of passing the disease genetically to children is very low.