
What is Scleroderma?
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Scleroderma is a rare, chronic disease that leads to fibrosis—the hardening of the skin and connective tissue.
This rare disease affects the skin and sometimes internal organs. It happens when the immune system attacks healthy tissue, triggering excess collagen production. While there is no cure, treatments focus on managing symptoms and preventing complications.
Overlap syndromes may occur, combining scleroderma with other autoimmune diseases like lupus or rheumatoid arthritis.
There are two main types of scleroderma
Systemic scleroderma (systemic sclerosis)
Localized scleroderma
What is localized scleroderma and how is it identified?
Localized scleroderma affects only certain areas of the skin or muscles, often causing patches or bands of thickened skin. It does not usually affect internal organs and is generally limited to a small area.
Localized scleroderma has several specific types, each with unique characteristics:
Linear scleroderma
Common in children, this type often appears as a single band or line of thickened skin, typically on the arms, legs, or forehead.
In severe cases, it can affect the underlying bone and muscle
When it affects the forehead, it's known as "en coup de sabre" (a French term that means "cut from a sword") because it resembles the strike of a sword
It can sometimes extend deeper into facial tissues
Plaque morphea: Involves one or a few isolated patches
Generalized morphea: Patches spread over larger areas of the body
Deep morphea: Involves deeper layers of skin and underlying tissue, including muscles
This type involves patches of hardened skin that may be oval or round, often with a whitish or purple border. The patches generally appear on the torso or limbs and do not affect internal organs.
Morphea can be classified further:
Morphea scleroderma
What is systemic scleroderma and how is it identified?
Systemic scleroderma (systemic sclerosis) is a chronic autoimmune disease that can affect multiple systems in the body, including connective tissues, leading to widespread fibrosis (hardening and thickening of skin and tissues), blood vessel damage, immune system dysfunction, joint pain, digestive issues, and breathing difficulties if the lungs are affected.
Unlike localized scleroderma, systemic scleroderma can impact internal organs, including the lungs, heart, kidneys, and digestive system. Systemic scleroderma is divided into three subtypes, limited, diffuse, and sine cutaneous.
Systemic scleroderma is characterized by three key features:
Narrowing and loss of small blood vessels
Hardening of the skin and certain internal organs
Presence of auto-antibodies (common overlap with other connective tissue diseases)
Skin Involvement: Skin changes often begin with puffiness in the fingers, toes, and face, progressing to thickening and tightening, which can limit mobility.
Oral Involvement: Tightening of the skin around the mouth can cause a reduced ability to open the mouth fully, leading to difficulties with dental care and speaking.
Vascular Involvement: Narrowed blood vessels can cause Raynaud’s phenomenon, poor circulation, ulcers, or pulmonary hypertension in severe cases.
Gastrointestinal Involvement: Digestive issues like heartburn, swallowing difficulties, and bloating can occur, sometimes leading to nutrient deficiencies.
Joint Involvement: Tight skin and fibrosis can cause stiffness, pain, and restricted motion, especially in the hands. Severe cases may lead to joint contractures.
Musculoskeletal Involvement: Tendon and muscle fibrosis can result in widespread pain, weakness, and reduced range of motion, affecting daily activities.
Psychological Involvement: Living with scleroderma can lead to emotional challenges, including anxiety, depression, and stress related to managing a chronic illness.
Eye Involvement: Dryness, irritation, and vision changes can result from reduced tear production or vascular damage, which can require regular eye exams for monitoring.
Organ Involvement: Internal fibrosis can affect the lungs, heart, and kidneys, causing complications such as shortness of breath, heart disease, and kidney dysfunction.
Brain Involvement: While rare, some individuals may experience cognitive difficulties, headaches, or neurological symptoms due to vascular complications.
The three primary subtypes of Systemic Scleroderma include:
Limited cutaneous scleroderma (systemic sclerosis)
Primarily affects the skin on the hands, face, feet, lower arms, and lower legs, but can also involve internal organs over time
Once referred to as "CREST syndrome," it represents Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly (thickening of the skin on fingers), and Telangiectasia (small, dilated blood vessels on the skin)
Progression tends to be slower than in diffuse scleroderma
Diffuse cutaneous scleroderma (systemic sclerosis)
Can involve larger areas and internal organs
Involves more extensive skin areas, including the torso, upper arms, and legs
Carries a higher risk of early internal organ involvement, such as in the lungs, heart, and kidneys
Progresses more quickly than limited systemic sclerosis and may be associated with more severe complications
Sine scleroderma (a rare form of systemic sclerosis)
Internal organ involvement occurs without skin thickening
Despite the absence of skin symptoms, it requires ongoing monitoring for organ involvement
Diagnosis and Treatment
The diagnosis of scleroderma is often possible simply based on history and examination. Blood tests help in categorizing the disease. The history and examination tell us much about the extent and pace of the disease, the impact of the disease on daily activities, and help us determine disease prognosis.
Treatment plans must be individualized; Raynaud phenomenon and esophageal symptoms afflict at some time and to a greater or lesser extent most individuals with this disorder, whether they have limited or diffuse disease. The diagnosis of scleroderma should generate neither fear nor panic but is certainly a call for action in determining the nature and extent of the disease. Some individuals may require no drug therapy. Many features of the disease have highly effective treatments. Some disease manifestations may spontaneously subside over time. However, there are aspects of the disease that are still poorly understood and, as a consequence, less satisfactorily addressed.
What Are Rare Diseases & Disorders?
Rare diseases and disorders, are infrequent, poorly understood, and often lack adequate diagnosis, therapy, and treatments.
They typically require specialist and continuous assistance, necessitating major public investment. An exact, universally accepted definition of a rare disease does not exist.
In the United States, a rare disease or disorder is classified as one that affects
people at any given time, according to the Orphan Drug Act of 1983.
In Europe, a rare disease or disorder is defined as one that affects fewer than
people, according to the European Medicines Agency (EMA).
There are various “lists” of rare diseases/disorders globally, each corresponding to the reference definition or specific interests of the association or working group that produced it.
How Many Rare Diseases & Disorders Are There?
The number of known rare diseases/disorders is continually growing as medical science advances.
They affect both children and adults and can occur at any stage of life. Many disorders are chronic, progressive, and disabling, and some are life-threatening.
In the United States, it’s estimated there are between
rare diseases and disorders, according to the National Organization for Rare Disorders (NORD) and the National Institutes of Health (NIH) Office of Rare Diseases.
Worldwide, people affected by rare diseases and disorders is estimated to only be
of the world’s population, which is approximately 300 million people. Individually, rare diseases and disorders affect relatively few people.
However, collectively, the number of people affected by rare diseases and disorders is significant.
Although the number of people affected by rare disease and disorders is only slightly fewer than those affected by heart disease (approximately 523 million worldwide), heart disease has been identified as a public health priority with substantial funds allocated for research and prevention.
In contrast, rare diseases and disorders do not receive the same level of attention on the public health agenda.
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