Scleroderma

Scleroderma is an autoimmune condition that results from the overproduction of collagen. The name comes from the Greek word "sclero," meaning "hard," and the Latin "derma," meaning "skin." As the name suggests, the common feature of scleroderma is the hardening of the skin.

Causes and Who’s at Risk

The overall prevalence of scleroderma globally ranges from 8 to 56 new cases per million persons each year and predominately affects female patients. Aside from sex, other factors such as ethnicity may influence the severity or age of onset.

Although scleroderma's exact cause is unknown, research has suggested that it is linked to the abnormal production of collagen by cells called fibroblasts. When these cells interact with vascular structures throughout the body, this interaction triggers and facilitates the development of the skin and organ-based fibrosis (scarring).

The clinical features of the condition vary from person to person, depending on the subtype of the condition and the involved organs. It is important to remember that scleroderma is not contagious, infectious, or a form of cancer, but as one can imagine, depending on the location of the hardened skin, it can potentially affect joint motion in the surrounding area.

Types of Sclerodermas

There are two major types of sclerodermas—localized scleroderma and systemic sclerosis (SSc).

Localized scleroderma is a subtype in which skin changes (hardening/thickening) occur only in a few places on the skin or muscle and rarely spread elsewhere. In this case, internal organs are usually spared, and the overall effect is relatively mild.

Systemic sclerosis (SSc) can be classified as diffuse SSc or limited SSc (also known as CREST syndrome). Many individuals can also develop pulmonary hypertension (high blood pressure in the lung's blood vessels impeding blood flow through the lungs resulting in shortness of breath). Diffuse SSc can also involve internal organs such as the lungs, esophagus, stomach and intestines, kidney, and heart. The abnormal build-up of collagen leads to these organs becoming "stiff" or "hardened," which causes them to lose some of their function. In rare cases, individuals may present with the hardening of their internal organs without skin or soft tissue involvement.

Diagnosis

The diagnosis of scleroderma involves a combination of taking a thorough history, physical exam, blood studies, and imaging which may consist of an echocardiogram (ultrasound of the heart) and/or visualization of certain organs, like the lungs. At times, your rheumatic care team may suggest pursuing a biopsy to confirm if the condition is affecting certain organs.

Treatment

There are several treatments available to help control manifestations of the condition. For example, one can use medications that reduce acid or promote gut motility aiding the motion of the stomach and intestines. Medications that alter the immune system may help with certain features of the condition, such as skin thickening and lung scarring (pulmonary fibrosis).

Additionally, specific blood pressure medications can also be taken for limited SSc to help dilate blood vessels, to prevent or help control Raynaud's phenomenon or help improve pulmonary hypertension. One of the recent breakthrough treatments for SSc has been the use of stem cells to undergo bone marrow transplantation.

Scleroderma can be an extraordinarily complex condition, often requiring a multispecialty approach. Treatments can help prevent the progression of the condition, and screenings can be done to intervene early, leading to an overall improvement in outcomes.