Edwin Smith, MD: Signs, Symptoms, and Strategies for Scleroderma

Edwin Smith, MD

In a discussion published today on HCPLive, Kelly Cordoro, MD, Society for Pediatric DermatologyFellowship Directors Chair, University of California, San Francisco, spoke of the “mysteries” surrounding pediatric scleroderma, which included how the disease manifests in children, predilections based on certain patients groups, and much more.

Despite recent advancements in research and support from myriad of organizations dedicated to the disease, the subject of scleroderma may be difficult to broach for patients and providers alike.

In a brief Q&A interview with HCPLive, Edwin Smith, MD, Professor, Division of Rheumatology & Immunology at the Medical University of South Carolina, provided an overview of this rare group of diseases, its variations, and where to find additional support outside of clinical environments.

HCPLive: Scleroderma is estimated to affect 500,000 people in the United States alone, and is partially defined by the tightening of the skin and connective tissues. Yet this rare group of diseases has implications across the body. Could you speak to how scleroderma/systemic sclerosis can result in acute kidney disease, as well as pulmonary and respiratory complications?

Dr. Edwin Smith: The illness, scleroderma, causes 1 related types of problems:

1. Fibrosis (scarring) in which there is an overproduction of connective tissues (collagen and others) in the body. Fibrosis is the cause of the skin thickening seen in scleroderma and also the scarring (interstitial lung disease) that can occur in the lungs.

2. Vascular changes in which the blood flow is limited to due narrowing of the blood vessels. This causes Raynaud phenomenon (color changes in fingers in response to cold), can cause high blood pressure by affecting the blood flow in the kidneys, and high blood pressure in the lungs (known as pulmonary arterial hypertension. Shortness of breath can be caused by either fibrosis or vessel problems in the lungs and some patients have both these conditions.

HCPLive: One of our interview subjects, Dr. Lisa Arkin, spoke of the recent focus on the psychosocial impact of scleroderma on pediatric populations and adults. Could you speak on how this disease is being considered in terms of its effect on the mental health of patients?

Dr. Edwin Smith: Scleroderma patients are forced to deal with a rare disease of uncertain cause which is currently uncurable and will be chronic and with them indefinitely.This uncertainty often leads to anxiety and depression. Information about the disease, what symptoms to be on watch for, what treatments are available and understanding care givers and family members are important. Treatments for depression and anxiety with counselling and/or medications can be helpful.Many patients find it reassuring to take part in clinical and basic research of scleroderma.

HCPLive: Currently, there are no cures for this condition. However, a myriad of treatments and management methods have been considered, including topical therapies and physical therapy. How do providers determine which treatment is ideal for each individual patient, and how has the rare nature of this condition affected the research surrounding scleroderma?

Dr. Edwin Smith: Because the problems that scleroderma is causing for an individual patient is individualized for that person therapy is based on what symptom and organ system is being affected. For example, when blood pressure is very high due to kidney problems, immediate treatment with blood pressure mediations is necessary. For lung scarring treatments with immunosuppressive and antifibrotic medications is used. Medications to increase blood flow to the hands are given for Raynaud phenomenon.

Clinical research for scleroderma is affected by not all scleroderma patients have exactly the same problems and by the rarity of the disease.As a result, clinical research of treatments for scleroderma is most often completed at several cooperating research hospitals that may involve several different states or even countries.This is necessary to have enough patients in the study to have results that are meaningful. Such research is necessary to develop better treatments for this disease.

HCPLive: Could you speak to the variations of scleroderma, and how providers engage in diagnosis them? I know that scleroderma can often be mistaken for other inflammatory conditions, which of course contributes to the challenge of diagnosing/treating this disease.

Dr. Edwin Smith: The term scleroderma is applied to a group of related illnesses. There are types of scleroderma that affect only the skin and occurs in patches (called morphea). There are two types of scleroderma that are better termed “systemic sclerosis” because more organ systems than skin can be affected. Systemic sclerosis scleroderma comes in 2 types: 1. Limited cutaneous in which the skin thickening is limited to only fingers and hands and 3. Diffuse cutaneous in which the skin is affected more widely including the chest and abdomen. Persons with the limited form are at risk of developing high blood pressure in the lungs and persons with the diffuse type are at higher risk of lung fibrosis or kidney disease.These are not absolute and it is possible for a patient in either group to have any of the complications.

A diagnostic challenge is that, particularly early in the disease, distinguishing scleroderma from related conditions such as rheumatoid arthritis, systemic lupus erythematosus, or dermatomyositis may be difficult. Clinical examinations and laboratory testing can be helpful in distinguishing these problems and making the diagnosis. Some patients may actually have more than one of these illnesses concurrently.

HCPLive: This month is Scleroderma Awareness Month, and June 29th is World Scleroderma Day, a day which was inspired by Swiss artist Paul Klee and first celebrated in 2009. How do medical holidays/commemorative days help broaden the conversation regarding scleroderma, and what resources are available for patients and providers that you feel are particularly helpful?

Dr. Edwin Smith: Because scleroderma is a rare disease it is often unknown or misunderstood. Commemorative months and/or days raise the general awareness of the condition. Awareness of the condition and that there are organizations, institutions, and persons trying to help bolsters support of patients and support of needed research.

For further information, please visit:

National Scleroderma Foundation: scleroderma.org

American College of Rheumatology: rheumatology.org