Symptoms of Scleroderma

Scleroderma is a chronic autoimmune disease of the connective tissue that causes a hardening and tightening of the skin. (Scleroderma means "hard skin" in Greek). The disease can be localized, with symptoms related entirely to the skin, or it can be systemic, in which hardening can occur in connective tissues within the body.

Nearly everyone with scleroderma develops patches of thick, hardened skin. The region will depend on the type of scleroderma, but it often includes the hands, arms, or face, and sometimes the torso and legs. As the skin tightens, movement can become restricted and joint and muscle pain can occur.

The systemic form, called systemic sclerosis, also commonly causes skin discoloration, swollen hands, narrowing of blood vessels in the hands and feet in response to cold, red spots on the face from swelling blood vessels, calcium deposits under the skin, and heartburn and other gastrointestinal issues. In addition, the lungs, heart, or kidneys can become affected and stop functioning efficiently, which can lead to serious symptoms and complications, such as shortness of breath and irregular heart rhythms (arrhythmias).

Treatments vary greatly depending on the type of scleroderma and symptoms, but may include topical or oral medications and physical therapy under the care and monitoring of a physician, such as a rheumatologist (a specialist in autoimmune and inflammatory conditions).

Types

The two main categories of scleroderma are localized scleroderma, which affects the skin and occasionally the underlying muscles or joints, and systemic sclerosis, which involves blood vessels and internal organs throughout the body.

Localized scleroderma affects mostly children and is less severe than systemic sclerosis, which is more common in adults. The causes of scleroderma are still unknown, but it is believed to be related to a buildup of collagen (a protein in connective tissue) in the skin and an abnormal immune system response.

Localized scleroderma may appear in one spot or in several patches or regions of the skin. It has the following two main subtypes.

• Linear scleroderma: Lesions look like straight lines or streaks
• Morphea scleroderma: Reddish oval patches form

Common Symptoms of Localized Scleroderma

Localized scleroderma is a rare condition. Linear scleroderma typically involves both the surface and deeper layers of the skin, but morphea scleroderma doesn't tend to go beyond the surface layers of the epidermis and dermis.

Linear Scleroderma

Linear scleroderma forms into lines as it hardens. It often occurs on one side of the body and can appear as a line down an arm or leg, or sometimes the head. As it spreads to deeper skin layers, it may also involve muscle and bone. Linear scleroderma typically occurs in children.

Common symptoms of linear scleroderma include:

• Lines or streaks of hardened, waxy skin on the trunk and limbs or face and scalp
• Skin discoloration that may appear lighter or darker
• Joint tightness

Morphea Scleroderma

Morphea sleroderma, the more common form of localized scleroderma, most often forms on the abdomen and back. It can also sometimes develop on the face, arms, and legs.

Morphea scleroderma can be limited to one to four small patches (plaque morphea) or in some cases it can spread over large areas of the body (generalized morphea). It most commonly occurs in adults between the ages of 20 and 50, but can also occur in children.

Common symptoms include:

• Patches of reddish skin that thicken into firm, oval-shaped areas on the abdomen, chest, or back
• Skin becomes waxy and shiny as it tightens
• Center of the patches can be ivory or yellow with violet borders
• Pruritis (itchy skin)

Morphea scleroderma tends to be oval and reddish, but the waxy patches may vary in color, shade (light or dark), size, and shape. The patches may get larger or shrink, and they may disappear spontaneously.

Common Symptoms of Systemic Sclerosis

Systemic sclerosis (SSc) can affect connective tissues in many parts of the body. The two main subtypes are limited cutaneous SSc, which progresses slowly over a period of years, and diffuse cutaneous SSc, which covers more skin area and progresses more quickly to multiple organs and systems.

Limited Cutaneous Systemic Sclerosis

Limited cutaneous SSc is also called CREST syndrome, an acronym for its common conditions and symptoms.

Common skin-related symptoms of limited cutaneous SSc include:

• Fingers or toes turn blue and/or white when cold and then become bright red when warmed back up
• Swelling and sausage-like appearance of fingers
• Skin thickening on the face, arms, and legs
• Small, hard lumps in or under the skin (calcinosis)
• Fingers curl due to skin tightening
• Range of finger motion is reduced
• Waxy, mask-like appearance of face
• Tiny red spots on hands and face
• Abnormal skin dryness

An estimated 95% of SSc cases begin with Raynaud's phenomenon, according to the American Scleroderma Foundation. In limited cutaneous SSc, Raynaud's phenomenon often occurs for several years prior to skin thickening.

Early symptoms of limited cutaneous SSc involve sensitivity and/or swelling of fingers or toes. The swelling of the hands may be especially pronounced in the morning due to 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.

Gastrointestinal issues affect up to 90% of people who have SSc. The esophagus is the most commonly involved organ, affecting 67% of people with SSc. The symptoms are due to structural and functional changes of the esophagus that can occur in limited or diffuse cutaneous SSc.

Common esophageal symptoms include:

• Heartburn (the sensation of burning behind the breast bone)
• Difficulty or pain while swallowing
• Regurgitation
• Hoarseness
• Mouth ulcers
• Acid taste in the mouth

The most common symptom is heartburn. This is due to irritation of the esophagus by acid reflux (stomach acid backing up or refluxing up the esophagus).

Sometimes excess collagen collects in the tissue between the lungs' air sacs in people with limited cutaneous SSc, making the lung tissue stiffer and less able to work properly. If the lungs become affected, common additional symptoms include:

• Persistent cough
• Shortness of breath

Diffuse Cutaneous Systemic Sclerosis

Raynaud's phenomenon often occurs simultaneously or just prior to skin thickening in those with diffuse cutaneous SSc. Diffuse cutaneous SSc can involve the heart, lungs, kidneys, gastrointestinal tract, and central and peripheral nervous systems.

Common symptoms of diffuse cutaneous SSc include:

• Swelling and sausage-like appearance of fingers
• Skin thickening over large areas of the torso, hands, arms, and legs
• Waxy, mask-like appearance of face
• CREST syndrome (see above)
• Skin darkening or a salt-and-pepper appearance 
• Thinning of lips and furrowing around mouth
• Muscle and joint pain and/or stiffness
• Grating noise with movement of joints
• Weight loss
• Fatigue
• Heartburn
• Gastroparesis (sensation of nausea, fullness, or bloating from retention of food in stomach)
• Cramps and/or diarrhea
• Chronic cough
• Shortness of breath

Muscle and joint pain may also occur along tendons and in muscles in 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 diffuse cutaneous SSc experience a grating noise when they try to move inflamed joints, particularly joints at and below the knees.

In the lower GI tract, diffuse cutaneous SSc can sometimes slow movement of food and reduce food absorption.

Rare Symptoms

There are rare subtypes of localized scleroderma that can sometimes develop into more serious conditions. These types include:

• Subcutaneous morphea affects deeper tissues and can extend deep into muscles.
• Bullous morphea causes blister-like bumps or areas of erosion on the region of morphea.
• Generalized morphea may also limit joint function due to its larger coverage areas. In rare cases, the larger lesions can merge together, covering the entire body.
• En coup de sabre is a rare form of linear scleroderma that affects the head, especially the forehead. Lesions form depressed grooves that resemble a sword wound or the stroke of a sabre. If it's on the scalp, hair loss can occur. In rare cases, en coup de sabre can cause abnormalities in the growth of facial bones and, unlike other forms of localized scleroderma, it can recur many years after going away.

Some people with SSc experience additional symptoms that may or may not seem related to the disease. This can include:

• Trigeminal neuralgia (sudden episodes of severe facial pain)
• Limited eye movement
• Severe fatigue and depression

Complications

Scleroderma can cause many 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.

Complications of Localized Scleroderma

Complications of localized scleroderma may include the following.

• Joint pain: About 10% to 20% of people with localized scleroderma develop pain in affected joints.
• Slowed growth of an arm or leg: Linear scleroderma that extends to muscles and tendons can sometimes stop or slow the growth of the affected limb in children.
• Co-existing inflammatory arthritis and juvenile idiopathic arthritis: When localized scleroderma and arthritis occur together, lesions can cover arthritic joints, and the arthritis may be less responsive or unresponsive to treatments.

Complications of Systemic Sclerosis

Complications of SSc are most often related to diffuse cutaneous SSc and can involve many organs and body systems. They may include the following.

• Ulcers on fingers and toes: Severe Raynaud's phenomenon can obstruct blood flow to fingers and toes, causing ulcers that can be difficult to heal. Fingertips may be permanently damaged.
• Gangrene: In extreme cases, abnormal or narrowed blood vessels combined with severe Raynaud's can lead to gangrene and may necessitate amputation.
• Incontinence: Weakening of the sphincter muscles and/or abnormal gastrointestinal motility can lead to stool incontinence.
• Lung damage: Breathing problems due to pulmonary hypertension and scarring of the connective tissue in the lungs can lead to lung disease and, potentially, heart failure.
• Heart problems: Scarring of heart tissue and narrowed blood vessels can lead to abnormal heart rhythms 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 condition can lead to malignant high blood pressure and 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: Diffuse cutaneous SSc 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 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 SSc, increases the risk of stomach cancer.
• 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.
• Nervous system problems: Headache and dizziness, convulsions, and visual disturbances can occur if the nervous system is affected. In some cases it can also lead to aphasia (loss of ability to speak and understand language).

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 reduce the risk of serious complications. By recognizing and treating organ involvement in SSc early, you can prevent irreversible damage.

A Word From Verywell

If you or your child is diagnosed with scleroderma, it can be overwhelming, but it's important to remember that localized scleroderma typically goes away over time and systemic sclerosis is manageable with treatments to target affected organs.

If it's localized scleroderma, there will likely come a time when no new lesions form and the existing ones fade. With systemic sclerosis, treatments are continuously improving and can help you with symptoms and improve your quality of life.