Localized Scleroderma (Morphea)
The skin is typically the only organ involved in localized scleroderma. In extreme cases, however, the muscle or joint below is also affected by a hardening of the tissues. Because internal organs are not affected by localized scleroderma, it is not a life-threatening illness and can be considered a less serious health threat than other forms of the disease. Symptoms of localized scleroderma will, in many cases, improve or go away on their own over time, but there is frequently permanent damage in the form of residual scar tissue. For some patients, localized scleroderma can be disfiguring and painful. In rare cases, it can be disabling.
Systemic scleroderma, also known as systemic sclerosis (SSc), is a multi-system, autoimmune-driven disease with numerous manifestations that can affect not only the skin, but also underlying blood vessels, muscles, and joints, as well as the gastrointestinal tract, kidneys, lungs, and heart. There are two subsets of systemic sclerosis, limited and diffuse – both are characterized by vascular injury, as well as severe inflammation and varying levels of fibrosis.
Systemic sclerosis causes widespread vascular damage and a resulting loss of circulation that can result in painful skin ulcers occurring on fingers, toes and other extremities. Joint pain caused by inflammation and swelling can be chronic. Loss of flexibility in the hands and severe skin tightening can impair the use of fingers and toes. The skin of the face may also tighten and harden, especially around the mouth, making eating and drinking difficult.
Systemic sclerosis (both limited and diffuse) is the most dangerous form of the disease and the primary focus of research funded by the Scleroderma Research Foundation.
It is estimated that approximately 90% of systemic sclerosis patients experience Raynaud’s (ray-NOHZ) phenomenon as a primary symptom. Named after the French physician who discovered it more than a century ago, Raynaud’s is a condition in which the small blood vessels of the hands and, sometimes, feet have an exaggerated response (contraction) to cold or stress. The process makes the hands/feet extremely sensitive to cold and causes loss of blood flow and a concomitant color change of the tissue from white to blue. As blood flow returns, they become red. With scleroderma patients, tissues in fingertips, especially the capillaries, may suffer damage. This damage can lead to ulcers, scars, or, in severe cases, gangrene and digital loss.
It should be noted that Raynaud’s phenomenon is quite common, affecting approximately 1 of every 20 people in the United States. Only a small percentage of people with Raynaud’s phenomenon will go on to develop a form of systemic sclerosis.
Limited Systemic Sclerosis (Limited Scleroderma)
The limited subtype of systemic sclerosis affects approximately two-thirds of the systemic sclerosis population. Although limited systemic sclerosis typically progresses more slowly than diffuse systemic sclerosis, the disease can still be life-threatening. It is imperative to treat symptoms and monitor for organ damage. Chronic pain, loss of mobility, and disfigurement are possible. There is also the potential for serious complications related to the esophagus and other parts of the gastrointestinal tract, as well as pulmonary complications, leading to dangerously high pulmonary blood pressures.
Limited Systemic Sclerosis is sometimes referred to as CREST Syndrome, an acronym for several of the most prominent features:
Calcinosis: Hard, painful calcium deposits in the skin
Raynaud’s: Blanching of feet and hands from white to blue to red in response to cold or stress
Esophageal: Problems with swallowing or dysfunction or acid reflux
Sclerodactyly: Tightening of the skin on the fingers and toes
Telangiectasia: Small red spots due to dilated blood vessels on the face, lips, forearms or fingers
Diffuse Systemic Sclerosis
The diffuse subtype of systemic sclerosis is characterized by an inflammatory phase early in the disease. Unlike limited systemic sclerosis, the onset of symptoms can be rapid and severe. In most cases of diffuse systemic sclerosis, there is extensive skin fibrosis covering the extremities and often other parts of the body as well. However, fibrosis of the internal organs is a very dangerous complication.
The most serious complications of diffuse systemic sclerosis involve the kidneys, lungs and heart, and gastrointestinal tract. The most commonly affected organ is the lung and fibrosis in that organ leads to interstitial lung disease (ILD). Sometimes ILD can also be accompanied by pulmonary hypertension.
People with diffuse systemic sclerosis can also be chronically tired, have weight loss and suffer joint swelling and pain. Changes in the skin can include swelling, tightening and itchiness.
It is not uncommon for people with diffuse systemic sclerosis to enter a phase in which disease progression stabilizes for varying lengths of time.
Early diagnosis, symptomatic treatment and frequent visits to a physician for monitoring are critically important for diffuse systemic sclerosis patients.
SINE and Overlap Syndromes
Other forms of systemic sclerosis include sine (SEEN-ay) sclerosis and overlap syndromes. Sine sclerosis is a term physicians use to describe systemic sclerosis without the characteristic skin involvement. Patients with sine sclerosis may have symptoms of either limited or diffuse systemic sclerosis, causing damage to internal organs.