Symptoms of Scleroderma

Scleroderma is a chronic autoimmune disease of the connective tissue that manifests in a number of symptoms, the most visible of which is a hardening and tightening of the skin (scleroderma literally means "hard skin" in Greek). Other symptoms of scleroderma may include skin discoloration, joint and muscle pain, narrowing of blood vessels, heartburn, swollen and puffy hands, gastrointestinal issues, and calcium deposits under the skin.

Basically, there are two major categories of scleroderma—localized scleroderma and systemic scleroderma—and symptoms vary depending on the type you may have (each category also has sub-types). Localized scleroderma, which affects mostly children, is limited to only skin hardening. But systemic scleroderma, also known as systemic sclerosis (SSc) can involve internal organs and blood vessels in addition to skin hardening, and thus manifest in a number of symptoms.

While symptoms of scleroderma vary from person to person, here is a rundown of the most common symptoms of the disease:

• Hardened, tight skin, that looks shiny and smooth, mostly on the hands, arms, and forearms
• Changes in skin coloration
• Cold fingers and toes that turn blue, numb and painful when exposed to cold temperatures or stress (Raynaud's phenomenon)
• Gastrointestinal issues
• Fatigue and depression
• Muscle and joint pain
• Swollen and puffy hands
• Esophageal problems and difficulty swallowing
• Small red spots on the face and hands caused by dilated blood vessels (telangectasias)
• Lumps of calcium under the skin (calcinosis)

While the constellation of symptoms may differ, almost everyone with scleroderma experiences the characteristic thickening and hardening of skin on the hands, arms, face, and sometimes, the torso and legs. Thickened 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.

After the skin, digestive problems are the most common symptom of scleroderma, occuring in between 75% and 90% of people who have the disease. 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 also promote harmful bacteria, slowed movement of food, and reduction of food absorption. Stomach symptoms in scleroderma are due to 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).

Most people with scleroderma have esophageal problems, the most common symptom of which 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 acid taste in the mouth. 

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. (Many people who have Raynaud's never develop scleroderma).

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. Oftentimes, people with scleroderma experience a grating noise when they try to move inflamed joints, particularly joints at and below the knees.

Swelling and puffiness in 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.

Small white calcium deposits form under the skin, a condition known as calcinosis.These lumps may break through the skin and leak a white substance. Open cuts can become infected.

Swelling of tiny blood vessels near the skin's surface in people with scleroderma is called telangiectasia.

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:

• Persistent cough
• Abnormal skin dryness
• Shortness of breath
• Weight loss
• Hair loss
• Sjogren’s syndrome

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

Scleroderma can cause complications ranging 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 to 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

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.