What are Signs and Symptoms of Scleroderma

Reviewed By Dr. Amy Kelh

Scleroderma, also known as systemic sclerosis, is a chronic connective tissue disease generally
classified as one of the autoimmune rheumatic diseases. The name “scleroderma” is derived from
the Greek words “sclero,” meaning hard, and “derma,” meaning skin. Hardening or thickening of
the skin is one of the most visible manifestations of the disease, but scleroderma can affect many
other parts of the body including the major organs. Early recognition of signs and symptoms is
crucial as it can significantly impact the management and quality of life for those affected.

Understanding Scleroderma: What Are the Signs and Symptoms?

Scleroderma is a multisystem disease that is characterized by vascular dysfunction and
progressive fibrosis or thickening of skin and in some cases, the internal organs. There are
different subsets of scleroderma including a limited form and a more diffuse form, which have
been traditionally classified by extent of skin involvement. Scleroderma can also overlap with
other autoimmune conditions.

Limited systemic sclerosis primarily affects the distal fingers and may have vascular
manifestations such as Raynauds. Diffuse systemic sclerosis extends to the thighs, trunk and
upper arms, and these patients are at increased risk for organ involvement such as lung
involvement. scleroderma can involve internal organs and can be further divided into limited
and diffuse forms.

The symptoms of scleroderma can vary widely depending on the type and severity of the disease.
It is important to screen for organ manifestations early, as this may have implications for
treatment options.

Common Signs and Symptoms of Scleroderma

Skin Changes: Tightening and Hardening

One of the hallmark signs of scleroderma is the hardening and tightening of the skin. The skin
may appear shiny and can restrict movement as the skin tightens over joints. This can affect the
mobility of the small joints. In the more diffuse form, skin thickening can extend into the trunk
and upper arms. The skin around the mouth may also be affected in the diffuse form, which can
affect the perioral aperture. Calcinosis cutis, which describes the deposition of calcium slats in
the skin and subcutaneous tissue can also be observed.

It is important to detect cervical cancer early because it is a highly treatable and curable form of cancer when caught in its early stages. When cervical cancer is not detected until it has progressed to later stages, it can be much more difficult to treat and may require more aggressive and invasive forms of treatment. In addition, early detection can help to prevent the cancer from spreading to other parts of the body, which can significantly improve a person’s prognosis. Early detection can also help to reduce the number of deaths caused by cervical cancer. 

Raynaud’s Phenomenon: Cold and Numb Extremities

Raynaud’s phenomenon is often an early sign of scleroderma. It involves episodes of reduced
blood flow or vasospasm to the fingers and toes, typically triggered by cold or stress. This results
in the affected areas turning white or blue with cold exposure. This can be associated with
numbness or tingling. Typically with rewarming, the fingers may reperfuse and turn more red in
color. Management tips include keeping the core and periphery warm, reducing stress, and
sometimes medications can be used to improve blood flow to the fingers and toes. Raynaud’s
phenomenon can precede other symptoms of scleroderma by several years, making it an
important early indicator.

Gastrointestinal Issues: Difficulty Swallowing, Acid Reflux

Scleroderma can affect the digestive system, causing symptoms such as heartburn or reflux,
difficulty swallowing (dysphagia), or gut motility issues. Esophageal motility abnormalities is
present in a good proportion of patient with systemic sclerosis, but may be asymptomatic.
Submucosal collagen deposition and replacement of smooth muscle with fibrous tissue is the
basis for the gastrointestinal manifestations. This along with reduced peristalsis can lead to poor
gut motility. This can result in malnutrition and weight loss. Managing these symptoms often
involves dietary changes, medications to reduce acid production, and techniques to improve
swallowing. Patients may require the expertise of a gastroenterologist to determine the best
diagnostic study and treatment.

Joint and Muscle Pain: Stiffness and Discomfort

Joint and muscle pain are common in scleroderma, often presenting as stiffness and discomfort,
particularly in the small joints of the hands and feet. This may affect fine motor abilities and
reduce overall mobility. Strategies for managing pain include physical therapy and regular
exercise to maintain joint flexibility. Medications may be used to reduce inflammation and pain.

Lung Involvement: Shortness of Breath, Persistent Cough

Lung involvement is one of the most serious manifestations of systemic scleroderma. It can lead
to conditions such as pulmonary fibrosis (scarring of lung tissue) and pulmonary hypertension
(elevated pressures in the pulmonary artery). Symptoms may include shortness of breath, a
persistent cough, or reduced exercise tolerance. Interstitial lung disease that is untreated can be
associated with increased mortality. For this reason, early detection and treatment are crucial.
Treatments may include immunosuppressive medications to slow disease progression. Involving
a pulmonologist with expertise in interstitial lung disease as part of the care team becomes
important if interstitial lung disease or pulmonary hypertension is present.

Diagnosing Scleroderma: Signs and Symptoms in Medical Exams

Comprehensive Health Exams: What to Expect

Diagnosing scleroderma involves a thorough health examination, including a detailed medical
history and physical examination. Doctors look for characteristic signs such as skin thickening,
Raynaud’s phenomenon, and other systemic symptoms. Due to the complexity of the disease, a
multidisciplinary approach is often necessary, involving rheumatologists, dermatologists,
pulmonologists and other specialists depending on the degree of organ involvement.

Blood Tests and Biomarkers

Blood tests are an essential part of diagnosing scleroderma. They help detect specific antibodies
that are commonly present in people with the condition. These include antinuclear antibodies
(ANA), anti-topoisomerase I (also known as anti-Scl-70), anti-centromere antibodies and anti –
RNA polymerase III antibodies. These biomarkers can provide important clues about the type
and severity of the disease.

Imaging and Organ Function Tests

To assess internal organ involvement, doctors may use imaging tests such as X-rays, high
resolution CT scans, and echocardiograms. Pulmonary function tests (PFTs) are also crucial for
evaluating lung involvement. These tests help monitor the progression of the disease and guide
treatment decisions to protect vital organ function.

Treatment Options for Scleroderma Symptoms

Medications: Managing Symptoms and Slowing Progression

There is currently no cure for scleroderma, but various medications can help manage symptoms
and slow disease progression. Commonly prescribed drugs include immunosuppressants to
reduce immune system activity, vasodilators to improve blood flow, and medications to manage
specific symptoms like acid reflux and joint pain. Each treatment plan is tailored to the
individual’s symptoms and disease severity.

Physical and Occupational Therapy

Physical and occupational therapy play a critical role in maintaining mobility and function in
scleroderma patients. Physical therapy focuses on exercises to improve joint flexibility, strength,
and overall mobility. Occupational therapy helps patients adapt their daily activities and
environment to accommodate physical limitations, enhancing their ability to perform everyday
tasks independently.

Lifestyle Changes and Self-Care

Lifestyle changes and self-care strategies are essential components of managing scleroderma. A
balanced diet, rich in nutrients and low in processed foods, can help maintain overall health.
Regular, low-impact exercise can improve joint mobility and cardiovascular health. Stress
management techniques, such as mindfulness and relaxation exercises, can also be beneficial.

Avoiding smoking and excessive alcohol consumption is crucial, as these can exacerbate
symptoms and complications.

Advanced Treatments: When Symptoms Worsen

For patients with severe or rapidly progressing scleroderma, advanced treatments may be
necessary. These can include biologic drugs, which target specific components of the immune
system, and stem cell transplants, which aim to reset the immune system. Research into new
therapies is ongoing, offering hope for more effective treatments in the future.

Conclusion: Staying Informed and Proactive

Understanding the signs and symptoms of scleroderma is vital for early diagnosis and effective
management. Recognizing skin changes, Raynaud’s phenomenon, gastrointestinal issues, joint
and muscle pain, and signs and symptoms lung involvement can help patients and their families
seek timely medical care. Comprehensive health exams, blood tests, and imaging studies are
essential for diagnosing and monitoring the disease.
Treatment options are varied and tailored to the individual’s needs, including medications,
physical and occupational therapy, lifestyle changes, and advanced treatments. Staying informed
and proactive in managing the condition can significantly enhance the quality of life for those
affected by scleroderma.
If you or a loved one is experiencing symptoms of scleroderma, it is important to consult a
healthcare professional promptly. Early intervention can make a substantial difference in
managing the disease and maintaining overall health and well-being.

About Dr. Amy Kehl

Dr. Kehl is an adult rheumatologist with board certification in Rheumatology, Internal Medicine, and Musculoskeletal Ultrasound. Dr. Kehl is a native of Pasadena and graduated with honors and Phi Beta Kappa distinction from UCLA with a B.S. in Psychobiology and minors in Anthropology and Public Health.