Scleroderma affects approximately 10 out of 100,000 people. Four out of five diagnosed cases are women. Most people develop the disease in their 30s to 50s, and it can also occur in children.
There are different variants of the disease, which depend on the extent and appearance of the condition. Scleroderma in the skin, also known as morphea, can be localized or more widespread (generalized). When the disease process also attacks internal organs, it is called systemic sclerosis. Within this group, there are also different variants based on the amount of skin involved.
Skin involvement alone is about 10 times more common than systemic sclerosis. It is extremely rare for someone to develop systemic sclerosis from a condition that was previously only localized to the skin.
While scleroderma is generally a benign condition, systemic sclerosis can cause significant health problems. The specific symptoms depend on factors such as the patient's overall health, disease activity, and the organs affected.
The skin changes in scleroderma (morphea) and systemic sclerosis appear as localized, sometimes larger, areas of hard, tight, and shiny skin. Common areas of onset are the face, hands, and feet.
The skin changes can initially appear as diffuse, reddish, and slightly warm areas, indicating inflammation in the tissue. Overtime, the inflammation can lead to the classic skin changes with hard and tight skin. Sometimes, the skin may appear indented. Prolonged scleroderma changes can also cause local alterations such as increased pigmentation, dilated blood vessels (telangiectasias), hair loss, and calcifications.
The tight skin can eventually make it difficult to move body parts, such as fingers. If the disease is localized around the mouth, it can cause tight lips and difficulties with speech, facial expressions, and eating. Scleroderma can also cause symptoms such as swollen hands ("puffy hands") and intermittent whitening and pain in the fingers (Raynaud's phenomenon). These symptoms can occur before, during, or after the skin changes.
As mentioned, a range of internal organs can be affected in systemic sclerosis, including the heart, lungs, gastrointestinal tract (including the esophagus), kidneys, muscles, and joints. Disease activity in these organs can cause serious health problems. Diagnosis and treatment of such organ involvement are primarily handled by rheumatologists in hospitals.
The diagnosis of scleroderma (morphea) is often basedon the classical appearance of the skin changes. However, a skin biopsy isoften performed to confirm the diagnosis and rule out alternative conditions.
The diagnosis of systemic sclerosis is often based ona variety of examinations and tests, including a comprehensive clinical examination, blood tests, endoscopy, and various imaging studies. Disease-related antibodies can often be detected in the blood. However, these antibodies are also present in many healthy individuals and are not a definitive marker of the disease.
The cause of scleroderma and systemic sclerosis is unknown. There is no clear hereditary factor, but other autoimmune diseases may increase the risk.
In cases of scleroderma (morphea), the disease often stabilizes within 3-5 years, but relapses and longer disease courses can occur in certain variants. Life expectancy is expected to be normal with this condition. Treatment is therefore not always necessary, but the skin changes can be treated with corticosteroid creams (or other immunosuppressive creams/ointments). For more widespread skin changes, oral medication may be considered (such as Prednisolone, Methotrexate, and Mycophenolate). Light therapy (such as UVA1) may be appropriate in a few cases. Physical therapy/occupational therapy can help prevent/reduce movement difficulties related to the condition.
In contrast, systemic sclerosis lasts a lifetime. This disease group has a highly variable course, ranging from minimal symptoms to widespread, life-threatening disease. Treatment indications and choices reflect this variation and are tailored to each individual patient.
Unfortunately, there is no curative treatment for systemic sclerosis. Current treatment options, consisting of various immunosuppressive medications, aim to reduce disease activity and alleviate symptoms. Autologous stem cell transplantation is an option for a small number of patients but is an extensive and risky procedure. Despite disease activity in one or more vital organs, many systemic sclerosis patients live as long as the general population.
Scleroderma can partially resemble skin changes seen in hypothyroidism, as well as the skin disease lichen sclerosus. In addition, scleroderma can resemble rare conditions such as acrodermatitis chronica atrophicans (chronic Lyme disease), lipodermatosclerosis, eosinophilicfasciitis, panniculitis, and other connective tissue diseases.
It is advisable to keep affected skin soft, supple, and intact using corticosteroid and moisturizing creams. Avoid aggravating factors such as cold temperatures (use warm socks and gloves) and smoking. Exercise and physical therapy help many patients maintain good function and limit joint mobility loss.
