Symptoms of Scleroderma

Scleroderma is a chronic autoimmune disease of the connective tissue characterized by hardening and tightening of the skin. (Scleroderma means "hard skin" in Greek). Other symptoms of scleroderma include skin discoloration, joint and muscle pain, swollen hands, narrowing of blood vessels, heartburn and other gastrointestinal issues, and calcium deposits under the skin. There are two types of scleroderma (and several sub-types), each largely defined by their symptoms: Localized scleroderma, which affects mostly children, involves only skin hardening. Systemic scleroderma, or systemic sclerosis (SSc), affects internal organs and blood vessels as well.

Common Symptoms

While symptoms of scleroderma vary from person to person, the most common symptoms of the disease affect the skin.

Skin Changes

Nearly everyone with scleroderma develops patches of thick, hardened skin on the hands, arms, face, and sometimes, the torso and legs. These patches may be shaped like ovals or straight lines. They can appear as a line down an arm or leg or even down the forehead in a rare type of the disease called scleroderma en coup de sabre. Changes in the skin can hamper movement and make it difficult to bend fingers or toes. The face may appear waxy and mask-like.

As tightening occurs, the skin also becomes shiny and may change color, becoming darker or lighter. In diffuse scleroderma, the skin can become “hyperpigmented” and have a salt-and-pepper appearance. In morphea scleroderma, which is a type of localized scleroderma, reddish patches of skin thicken into firm oval-shaped areas that appear on the chest, stomach, back, face, arms, and legs. The centers of the patches are ivory, with violet borders.

Gastrointestinal (GI) Issues

Digestive problems affect between 75% and 90% of people who have scleroderma. These result from a weakening of the gut muscle caused by a decrease in the blood supply to the nerves, which are needed to stimulate the bowel. GI symptoms include cramps, bloating, diarrhea or constipation, nausea, abdominal pain, and incontinence.

In the lower GI tract, scleroderma can promote harmful bacteria, slowed movement of food, and reduction of food absorption. Stomach symptoms in scleroderma are due to the slow emptying of food into the small intestine. The retention of food in the stomach leads to the sensation of nausea, vomiting, fullness, or bloating (also known as gastroparesis).

Esophageal Problems

Most people with scleroderma have esophageal problems. The most common of these is heartburn (the sensation of burning behind the breast bone). This is due to irritation of the esophagus by acid regurgitating (backing up or refluxing up the esophagus) from the stomach.

Other symptoms may include difficulty swallowing, dry cough at night, recurrent chest pain behind the breast bone, persistent hoarseness, asthma (wheezing and shortness of breath), mouth ulcers, and an acid taste in the mouth. 

Cold Fingers and Toes

One of the earliest symptoms of systemic scleroderma is Raynaud’s phenomenon, which causes the small blood vessels in the fingers and toes to contract in response to cold temperatures or stress. When this happens, the skin turns white before becoming blue, cold, and numb.

An estimated 95% of scleroderma cases begin with Raynaud's phenomenon, according to the American Scleroderma Foundation.

Muscle and Joint Pain

Muscle and joint pain and stiffness may also occur along tendons and in muscles of the arms and legs. This can worsen with movement of the ankles, wrists, knees, or elbows. As the disease progresses, muscle loss and weakness may develop along with swelling, warmth, and tenderness around the joints and muscles. Often people with scleroderma experience a grating noise when they try to move inflamed joints, particularly joints at and below the knees.

Swollen Hands

Swelling of the hands may be especially pronounced in the morning due to the prolonged muscle inactivity during sleeping hours. Fingers may look sausage-like, making it difficult to close the hand into a fist. Symptoms may subside as the day goes on.

Calcinosis

Calcinosis is a condition in which deposits of calcium form under the skin, creating small lumps. These lumps may break through the skin and leak a white substance. Open cuts can become infected.

Telangiectasia

Swelling of tiny blood vessels near the surface of the skin of the hands and face can result in red spots known as telangiectasia.

Fatigue and Depression

Severe, if not debilitating, fatigue, accompanied by depression, are common symptoms of scleroderma. Anemia can also develop with scleroderma, which may contribute to the severity of these symptoms.

Other symptoms of scleroderma may include:

• Raynaud’s phenomenon: Cold fingers and toes that turn blue, numb, and painful when exposed to cold temperatures or stress
• Persistent cough
• Abnormal skin dryness
• Shortness of breath
• Weight loss
• Hair loss
• Sjogren’s syndrome, an autoimmune disease that causes dry mouth and eyes

Rare Symptoms

Some people with scleroderma experience symptoms that may or may not seem related to the disease, including sudden episodes of severe facial pain (trigeminal neuralgia) and impotence.

Complications

Scleroderma can cause complications that range from mild to life-threatening. These usually occur when the disorder has not been treated or when treatment has failed to adequately address symptoms: 

• Ulcers on fingers and toes: Severe Raynaud's phenomenon can obstruct the blood flow to fingers and toes, causing ulcers that can be difficult to heal. Fingertips may be permanently damaged. In extreme cases, abnormal or narrowed blood vessels combined with severe Raynaud's can lead to gangrene and may necessitate amputation.
• Lung damage: Lung complications, including breathing problems due to pulmonary hypertension and scarring of the connective tissue in the lungs, can lead to lung disease and potentially heart failure. In some cases, excess collagen collects in the tissue between the lungs' air sacs, making the lung tissue stiffer and less able to work properly.
• Heart problems: Scarring of heart tissue and narrowed blood vessels can lead to abnormal heart rhythms (arrhythmias) and, in rare cases, to an inflamed heart muscle (myocarditis).
• Kidney damage: Restricted blood flow to the kidneys can result in scleroderma renal crisis. If left untreated, this can lead to kidney failure. With this condition, a person develops malignant high blood pressure along with kidney failure.
• Dental problems: Severe tightening of facial skin can make it difficult to open your mouth wide enough to brush your teeth. Additionally, acid reflux can destroy tooth enamel, and changes in gum tissue due to scleroderma may cause teeth to become loose or fall out.
• Dry eyes and mouth: Some kinds of scleroderma can cause very dry eyes and mouth, a condition known as Sjogren's syndrome.
• Gastric Antral Vascular Ectasia Syndrome (GAVE): Sometimes called "watermelon stomach," this is a rather rare condition resulting in red-streaked areas in the stomach from widened blood vessels, and iron deficiency anemia. GAVE, which affects an estimated 5% of people with systemic scleroderma, increases the risk of stomach cancer and may lead to anemia.
• Sexual dysfunction: Males with scleroderma may experience erectile dysfunction; women may have decreased lubrication and a constricted vaginal opening.
• Heart failure: Scleroderma-related heart problems may manifest as abnormal heart rhythms or congestive heart failure

When to See a Doctor

Individuals who exhibit symptoms of scleroderma should seek out a physician with expertise in this complex disease, such as a rheumatologist. Early detection of scleroderma can help prevent serious complications. By recognizing and treating organ involvement in scleroderma early you can prevent irreversible damage.