Scleroderma

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Scleroderma

What is scleroderma?

Scleroderma is a rare autoimmune skin condition consisting of hard, thickened skin. This chronic disorder occurs when normal tissue is replaced with excessive collagen, which forms thick, hard tissue that accumulates in the skin and organs. Scleroderma is a dangerous condition as it can form scar tissue on vital organs such as the lungs, heart, gut, blood vessels, and kidneys. The presentation of symptoms for scleroderma varies with each individual but can pose some serious health complications, especially when the heart or lungs may be involved.

Who can develop scleroderma?

Only about 100,000 Americans suffer from this rare condition. Women have a higher tendency to develop scleroderma versus men. It also seems to appear in middle-aged populations around 30-50 years old the most, although there is a pediatric form as well.

Where does scleroderma occur?

Scleroderma is most known to affect the skin but is also able to affect organs as well. Other locations include:

  • Gastrointestinal tract
  • Lungs
  • Kidneys
  • Heart
  • Blood vessels
  • Muscles
  • Joints

What are the different types of scleroderma?

There are several different forms of scleroderma that may present in individuals. The two main types includes:

  • Localized- most common type of scleroderma. It usually only impacts the skin in a few locations of the body. However, there are also cases where the joints, bones, and muscles are also affected. Waxy patches or streaks in the skin appear to be the classic presentation found in this type of scleroderma. Symptoms also have the possibility of resolving on their own without intervention.
  • Systematic- is the most serious form as it can impact vital organs in the body. It is further divided into two other subgroups.
  1. Diffuse- this type of scleroderma can be found in many different locations throughout the body and not just in the skin. This form commonly involves the hands and wrists. Vital organs can be affected, making this form potentially life-threatening. Kidney failure and pulmonary hypertension (high pressures in the heart and lung circulation) from scarring of the lungs (pulmonary fibrosis) are the most commonly seen serious complications in this type of scleroderma.
  2. Limited- most commonly known as CREST syndrome, as each letter represents a characteristic of the condition. It usually presents in the fingers and toes. This form does not involve kidney failure; however, pulmonary hypertension can be found which is also potentially life threatening. Here are the symptoms associated with this type of scleroderma:
  • C- represents calcinosis which is an abnormal accumulation of calcium deposits in the skin.
  • R- represents Raynaud’s phenomenon. 
  • E- represents esophageal dysmotility when there is difficulty with swallowing from the condition.
  • S- represents sclerodactyly which is tightness and stiffness in the digits.
  • T- represents telangiectasia which is red vascular marks in the body.

Causes

What is the cause of scleroderma?

How a person develops scleroderma is not well understood at this time. The most commonly accepted cause involves the body making too much collagen- which is a fibrous protein- due to a malfunction in the immune system. Currently, researchers are looking into if there is any genetic correlation with developing this condition or environmental triggers. 

What risk factors are there for developing scleroderma?

A few known risk factors for the development of scleroderma include:

  • Autoimmune disease- About 20% of those with scleroderma also have another autoimmune disorder.
  • Sex- Women have the majority of scleroderma cases.
  • Genetics- Certain genes, family history, and certain ethnic groups all appear to have a higher tendency to acquire scleroderma.
  • Environmental- Research is ongoing regarding potential causes for scleroderma. Some triggers include:
  1. Viruses
  2. Medications
  3. Chemicals

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Symptoms

What are the symptoms of scleroderma?

The symptoms associated with scleroderma can vary from person to person and depends on what location in the body it affects. Examples of the many scleroderma symptoms include:

  • Swelling (mostly in the hands and feet)
  • Alopecia
  • Fatigue
  • Telangiectasias (enlarged blood vessels)
  • Stiffness
  • Tightness in skin
  • Calcium deposits in the skin
  • Ulcers
  • Pain
  • Persistent cough
  • Shortness of breath
  • Acid reflux
  • Constipation
  • Weight loss
  • Swallowing difficulties
  • Gastrointestinal complications
  • Digestive complications
  • High blood pressure
  • Vaginal dryness

Can serious health problems arise from scleroderma?

There are several health complications associated with scleroderma. Some include:  

  • Pulmonary hypertension
  • Congestive heart failure
  • Sjogren’s syndrome
  • Raynaud’s phenomenon 
  • Scleroderma renal crisis
  • Interstitial lung disease
  • Tooth decay
  • Difficulty swallowing
  • Erectile dysfunction
  • Vaginal narrowing

Diagnosis

How is scleroderma diagnosed?

Scleroderma, just like many other conditions, requires careful diagnosis by a qualified healthcare professional such as those at TeleMed2U. This condition may imitate other diseases such as rheumatoid arthritis or lupus; therefore, a detailed medical history and physical examination is always recommended.

Are there any diagnostic tests that can be performed to confirm scleroderma?

There are a few diagnostic tests that can be performed to help with the diagnosis of scleroderma. Diagnostic tests include:

  • Centromere antibodies - an antibody test that is helpful in confirming limited cutaneous systemic sclerosis.
  •  Scl-70- an antibody test useful for diffuse scleroderma.
  • Kidney function blood tests- used to monitor for potential kidney damage related to scleroderma complications.
  • X Rays- are useful to look for any signs of lung damage.
  • Computed tomography (CT ) scan- available for use to determine scar tissue or damage to the lungs in scleroderma patients.
  • Electrocardiogram- a test that can be performed to evaluate the heart to determine if scleroderma has caused any scarring.
  • Echocardiogram- a preventive modality recommended to be performed at least annually to look for any complications to the heart or lungs from scleroderma.
  • Endoscopy- used to view the esophagus and intestines when symptoms of acid reflux or difficulty swallowing arise.

Treatment

What are treatment options for scleroderma?

Treatment for scleroderma focuses on the management of the various symptoms associated with this condition. Because there is no cure, there usually is a combination of treatments used periodically when needed. Early diagnosis and treatment are vital in helping to prevent serious, irreversible complications from this condition. Popular treatments usually used in other autoimmune conditions such as rheumatoid arthritis do not appear to be effective with treating scleroderma; therefore, the focus revolves around managing symptoms. 

If medications fail, what are other treatment options available?

For cases with severe scarring of lung, a transplant may need to be considered.

Although scleroderma may pose some serious health complications, treatment is very effective if addressed early on. Luckily, there are many professionals from TeleMed2U that can help you manage your symptoms and prevent long lasting problems with your health.

If you have been recently diagnosed with scleroderma, or think you may have it, consider visiting the Scleroderma Foundation website at: https://www.scleroderma.org/site/SPageServer/;jsessionid=00000000.app30109b?NONCE_TOKEN=2AC3AEAD0D569828BC6D6C89BC8BE555&pagename=patients_home#.YPNYA-j0nic

Information

Medically reviewed by:

Dr Roy Kedem, MD

Dr Zenon Andreou studied medicine at University College London, graduating in 2006. His postgraduate training was in hospitals in and around London and he trained for four years in Otolaryngology before completing his training in General practice

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