Scleroderma
Scleroderma is a rare group of progressive diseases
that can attack the skin, connective tissues (muscles,
etc.) and internal organs (known as the systemic form).
This autoimmune diseases causes an overproduction
of certain proteins such as collagen that cause the
skin to thicken and harden, known as fibrosis. The
skin may appear as glossy and tight. The word Scleroderma
means "hard skin". Scleroderma is grouped
with Connective Tissue Diseases since the skin and
underlying tissues are the connective tissues that
make up the framework of our bodies. It is often classified
with the Mixed
Connective Tissue disease when there is not yet
enough evidence to diagnose a patient with Scleroderma
yet they show signs and symptoms that are similar
to Scleroderma as well as other Connective Tissue
Diseases.
There are two main forms of Scleroderma, CREST or
Limited Systemic Sclerosis and Diffuse Systemic Sclerosis.
CREST is an acronym for the main symptoms the Limited
form of Scleroderma causes.
Calcinosis - this is an actual
calcification of the skin itself
Raynaud's Phenomenon - seen
in about 90% of the cases, Raynaud's causes a constriction
of the blood vessels in the fingers and toes. Read
more ...
Esophageal Dysfunction - difficulty
swallowing, also termed as dysphagia
Sclerodactyly - thickening
and tightening of the skin
Telangiactasias - when the
small vessels near the surface of the skin dilate,
they often mimic small spider veins, petechiae or
angiomas
Even though CREST primarily is a skin disease, Pulmonary
Hypertension can become a serious complication in
CREST as well.
The second form of Scleroderma, Diffuse Systemic
Sclerosis, is the progressive form of Scleroderma
that can affect large areas of the skin as well as
internal organ systems, most commonly the lungs, kidneys,
esophagus and heart.
Diffuse Systemic Sclerosis can also form as what
is called "Sine Scleroderma" which has minimal
or no skin involvement, but does involve internal
organ systems. Forms of Diffuse Systemic Sclerosis
that may not involve internal organ systems, but do
harshly affect the skin are known as Morphea and Linear
Scleroderma.
Morphea involves isolated patches of hardened skin
while Linear tends to manifest as lines of hardened
skin that often affect the underlying muscle and bone.
You can read more about Morphea
here on IWGW.com.
Complications that can result from Scleroderma:
Heart - high blood pressure, irregular heartbeat
and most severely an enlarged heart
Kidney - in it's severity can cause renal failure
Lung - shortness of breath, coughing, difficulty
breathing, inflammation of the air sacs, pneumonia,
and cancer
Digestive System - difficulty swallowing, acid reflux,
sluggish intestines, diarrhea, weight loss and anemia
(iron deficiency)
Skin and Joints - carpal tunnel syndrome is common,
muscle weakness, joint pain and stiffness
Symptoms:
Abdominal bloating
Abdominal pain
Areas of skin darkening
Areas of skin lightening
Calcium deposits on bony areas
Chest pain
Cold feet
Cold hands
Color changes in feet
Color changes in hands
Constipation
Diarrhea
Difficulty breathing
Difficulty chewing
Difficulty swallowing
Dry cough
Elbow pain
Elbows frozen in flexed position
Fingers frozen in flexed position
Frequent heartburn
General joint pain and stiffness
Headaches
High blood pressure
Hoarse voice
Impotence
Itchy skin
Knee pain with stiffness
Loose teeth
Muscle weakness
Pain in the fingers
Shortness of breath
Shoulder pain
Skin appears taut and shiny
Skin lesions on fingertips
Small spider veins across chest, face, hands, lips
or mouth
Thickening of fingertips
Unintentional Weight loss
Wrist pain
Wrists frozen in flexed position
Diagnosis:
Physical signs of the skin hardening and tightening,
nail fold capillary changes (the skin that overlaps
the base and sides of your fingernails and toenails),
and blood tests are usually used to diagnose a patient
with Scleroderma. However, in many cases, patients
exhibit physical signs for quite some time before
blood tests begin to show markers for the disease,
making it difficult to confirm a diagnosis right away.
It can also be hard to diagnose because of the wide
variety of forms of Scleroderma and how the disease
can vary from person to person. Scleroderma is a rare
disease and many of the symptoms mimic other autoimmune
diseases such as Lupus. In
many cases, a Scleroderma patient may be diagnoses
first with Mixed
Connective Tissue disease until blood tests begin
to show the positive markers needed to confirm a Scleroderma
diagnosis.
Physicians may also use X-Rays, CT Scans or other
imaging to look for signs of lung, heart, kidney or
other organ involvement.
Blood tests may show:
Negative Anti-SS B
Positive Anti-Topoisomerase I Antibody
Elevated Aldolase
Negative Anti-SS A
Positive Anti-Centromere Antibody
Elevated Creatine Phosphokinase
Positive Anti-Nuclear Antibody
Elevated Erythrocyte Sedimentation Rate
Treatment:
There is no known cure for any forms of Scleroderma
so treatment is aimed at symptom management and relief,
and immunosuppressant to try and tame the immune system
response causing the body to attack itself. Some of
the immunosuppressants include methotrexate, cyclophosphamide,
azathioprine and mycophenolate.
Other treatments include creams to try to soften
areas of the skin and reduce inflammation as well.
Prognosis:
Prognosis depends of the form of Scleroderma the
patient has. Over recent years, survival rates have
increased due to new treatments and options thanks
to research and studies.
Morphea has a better outlook than those with widespread
skin and organ involvement. Age can also play a factor
in the survival rate as studies have shown older men
and women have a lower survival rate. Younger patients
may live 20 - 50 years after diagnosis. In most severe
cases (less than 10% of diffuse Scleroderma cases)
may have a 50% chance of survival in 5 years.
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