Understanding Scleroderma

Scleroderma, also known as systemic sclerosis, is a complex autoimmune disease that affects various parts of the body, primarily the skin, blood vessels, and internal organs. For healthcare providers, understanding the nuanced differences in this disease’s presentation and diagnosis can be key to effective treatment and management. Here, we’ll explore the essentials of systemic sclerosis, including its classification, symptoms, and diagnostic criteria. 


Watch this instructional video with Dr. Chung, Professor of Medicine in Immunology and Rheumatology, and Dermatology at Stanford University. Dr. Chung, the founder of the Stanford Scleroderma Program, has dedicated her work to advancing care for patients with systemic sclerosis (SSc) through comprehensive clinical services, a robust research database, and clinical trials. In this session, she guides healthcare learners on performing the physical exam for a scleroderma patient. Special thanks to our patient, "RB," for their participation.

What is Systemic Sclerosis?

Systemic sclerosis is a systemic, autoimmune condition characterized by skin tightening and the involvement of internal organs. This differs from localized scleroderma (also called morphea), which affects only the skin without impacting internal organs or producing systemic symptoms.

Key Types of Systemic Sclerosis

Systemic sclerosis is divided into two major subtypes:

• Limited systemic sclerosis: Skin tightening is restricted to distal areas of the body, such as the fingers, face, elbows, and knees.
  
  
• Diffuse systemic sclerosis: Involves more extensive skin tightening, including areas of the trunk, upper arms, and legs, indicating a potentially more severe form with higher risks for internal organ involvement.

Recognizing and Diagnosing Systemic Sclerosis

Diagnosing systemic sclerosis involves a classification system based on a point scale. Patients need to accumulate a minimum of nine points based on specific symptoms and diagnostic markers. Here are the key criteria:

1. Skin Tightening (Sclerodactyly)
   One of the most common signs, sclerodactyly (tightening of the skin on the fingers), combined with tightening near the knuckles, can independently meet the nine-point threshold for diagnosis.

2. Raynaud’s Phenomenon
   This is a circulation issue that causes fingers and toes to turn white or blue in response to cold or stress. Raynaud’s phenomenon alone contributes three points to the diagnostic score and is observed in approximately 90% of systemic sclerosis cases.

3. Puffy Fingers
   A common early indicator, swollen fingers can be an initial sign of the disease, contributing two points toward diagnosis.

4. Nailfold Capillary Changes
   Specialized instruments, such as dermatoscopes, reveal abnormal capillaries near the nails. If present, these changes—such as dilations, capillary dropout, or hemorrhages—add two points.

5. Digital Ulcers and Pitting Scars
   Poor blood flow to the fingers and toes may lead to painful digital ulcers or pitting scars, adding three points for scars and two points for ulcers.

6. Telangiectasias
   These are clusters of small, dilated blood vessels that appear as red marks, typically on the face and hands. In systemic sclerosis, these blood vessels appear in a “matted” form rather than in spider-like clusters and contribute two points.

7. Lung Involvement
   Many patients with systemic sclerosis develop lung issues, such as interstitial lung disease or pulmonary hypertension. Annual screenings help monitor and manage these risks.

8. Autoantibodies
   Specific autoantibodies, including anti-SCL 70 and anti-centromere, are associated with systemic sclerosis. Testing positive for one of these antibodies contributes three points toward the classification.

Final Thoughts

Systemic sclerosis remains a challenging disease for patients and healthcare providers alike. By understanding the classification criteria and physical markers of the disease, healthcare providers can help patients navigate the early warning signs and intervene with appropriate care plans. Early recognition of symptoms—like Raynaud’s phenomenon, puffy fingers, or skin tightening—can be the first steps toward timely diagnosis and a tailored management approach.