Scleroderma

Scleroderma, also called systemic sclerosis, is a rare group of diseases. These diseases cause the skin to harden and tighten. This tightening can also affect blood vessels, organs, and the digestive system.

Scleroderma is sometimes described as either "limited" or "diffuse." This describes how much skin is affected. Importantly, both types can affect other parts of the body, like blood vessels and internal organs. A related condition, called localized scleroderma or morphea, only impacts the skin.

While there's no cure for scleroderma, treatments are available to help manage symptoms, slow the disease's progression, and improve a person's overall well-being.

Scleroderma affects people differently, depending on where it develops in the body. A common symptom is the hardening and tightening of the skin. This often starts in the fingers, hands, feet, and face. It can also spread to the forearms, upper arms, chest, abdomen, lower legs, and thighs. Early signs might include swelling and itching. The affected skin might change color, becoming lighter or darker, and appear shiny due to the tightening.

Small, red spots, called telangiectasia, might appear on the hands and face. Calcium deposits can form under the skin, especially at the fingertips. These deposits can create bumps that show up on X-rays.

A frequent problem with scleroderma is Raynaud's phenomenon. This happens when blood vessels in the fingers and toes narrow too much in response to cold or stress. This can make the digits feel painful, numb, and change colors—turning white, blue, gray, or red. Raynaud's can also affect people who don't have scleroderma.

Scleroderma can impact any part of the digestive system, from the tube that carries food down to the stomach (esophagus) to the rectum. Problems in this area can include:

• Heartburn
• Trouble swallowing
• Feeling bloated
• Diarrhea
• Constipation
• Loss of control over bowel movements (fecal incontinence)

If scleroderma affects the heart or lungs, it can lead to breathing problems, reduced ability to exercise, and dizziness. Scleroderma can cause scarring in the lung tissue, making it harder to breathe over time. Fortunately, some medicines can help slow down this lung damage.

Problems with the heart, like irregular heartbeats and heart failure, can also result from scleroderma.

Scleroderma is a condition where the body makes more collagen than it needs. Collagen is a protein that helps support and connect different parts of the body, like skin. When there's too much collagen, it builds up in tissues, causing problems.

Scientists aren't sure exactly why this happens. It seems the body's immune system, which normally fights off infections, might be involved. Most likely, scleroderma is caused by a mix of things. These likely include issues with the immune system, a person's genes, and things in their environment.

Scleroderma can affect anyone, but it's more common in women. Most people develop scleroderma between the ages of 30 and 50. Interestingly, Black people sometimes get it earlier and may have more skin problems and lung issues associated with the condition.

Several things seem to increase the chances of getting scleroderma:

• Family history (genetics): Certain gene variations might make some people more prone to developing scleroderma. This could explain why the condition sometimes runs in families, and why it's seen more often in certain racial and ethnic groups. It's important to note that while family history is a factor, many people with scleroderma don't have a family history of it.

• Environmental factors: In some cases, exposure to specific viruses, medications, or harmful substances (like certain chemicals) at work or elsewhere might trigger scleroderma symptoms. Repeated exposure appears to be a factor in some individuals. However, a clear environmental trigger isn't found in most people with scleroderma.

• Immune system problems: Scleroderma is considered an autoimmune disorder. This means the body's immune system mistakenly attacks healthy connective tissues. People with scleroderma sometimes also have other autoimmune conditions like rheumatoid arthritis, lupus, or Sjogren's syndrome. This overlap of conditions suggests a link to the immune system's role in scleroderma.

Scleroderma, a condition causing stiffening of the skin and connective tissues, can lead to various complications, ranging from minor to severe. These complications can affect different parts of the body:

Fingers: A common complication in scleroderma is Raynaud's phenomenon. This is when blood flow to the fingers is reduced, often triggered by cold or stress. In severe cases, this reduced blood flow can damage the tissues in the fingertips, leading to indentations (pits), sores, and even tissue death.

Heart: Scleroderma can cause scarring (fibrosis) in the heart muscle. This can increase the risk of irregular heartbeats (arrhythmias) and heart failure. The condition can also cause inflammation of the sac surrounding the heart (pericarditis).

Digestive system: Scleroderma can significantly impact the digestive system. Symptoms can include heartburn and difficulty swallowing (dysphagia). Other problems such as abdominal cramps, bloating, constipation, and diarrhea can also occur. In some cases, scleroderma can cause an overgrowth of bacteria in the intestines, hindering the body's ability to absorb nutrients.

Joints: The tightening of skin around joints, a hallmark of scleroderma, can restrict movement and flexibility, particularly in the hands. This can make simple tasks like opening jars or using utensils challenging.

Scleroderma is a tricky condition to diagnose because it can show up in many ways and affect many parts of the body.

To figure out if you have scleroderma, your doctor will first do a physical exam. This involves checking your skin, joints, and other parts of your body. Following the exam, they might suggest some blood tests. These tests look for specific proteins (called antibodies) that the body's immune system sometimes makes in higher amounts when someone has scleroderma.

Your doctor might also order other blood tests, imaging scans (like X-rays or ultrasounds), or tests to check how well your organs are working. These additional tests can help figure out if the condition is affecting your digestive system, heart, lungs, or kidneys. For example, imaging scans can help visualize potential problems in these organs, and organ function tests measure how efficiently they are working.