Scleroderma

 Scleroderma

What is scleroderma?

Scleroderma (skleer-oh-DUR-muh) is a greek word. It can be divided into 2 separate words: “sclero” and “derma” which means hard and skin. Hence Scleroderma is a chronic disease identified by hardening of skin. This hardening of skin is commonly referred as fibrosis. It is an autoimmune disease which results in thickening of skin, instant scarring, overactive immune system, and blood vessel disease. Scleroderma is also called the CREST phenomenon where CREST means: Calcinosis, Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasias.

It is a very rare disease and more common in women.

Types of Scleroderma

There are 2 types of scleroderma: Localized and Systemic

1- Localized:

The localized forms are morphea and linear.

A. Morphea is skin hardening or thickening due to excessive collagen deposition. Morphea ranges from plaques to widespread disease. It is different from systemic scleroderma due to lack of organ involvement. There are 5 subtypes of morphea:

1. Plaque Morphea.
2. Generalized Morphea.
3. Linear Scleroderma.
4. Bullous Morphea.
5. Deep Morphea

B. Linear as the name suggests is a line of thickened skin that affects arms, legs, and forehead. It is most likely to be on many parts of the body at once. Young ones get affected due to linear scleroderma.

2- Systemic:

Systemic affects the blood vessels and hence differs from localized scleroderma. Skin mostly appears reddish or scaly. It also causes itching and affects fatty areas of muscles. Some have very limited areas of skin affected while some have progressive problem with skin of various parts of the body getting affected.

There are several types of systemic scleroderma:CREST, Limited and Diffuse.

CREST represents the following features:

1.  Calcinosis: As the name suggests it is the formation of calcium deposits in any soft tissue. This is seen as hard, whitish and superficial skin under knees, elbows and other parts of the body where it has bents or joints. They often fall on their own and sometimes require surgical removal.
2. Raynaud’s phenomenon is often cited with discoloration of skin innd various parts of the body and most commonly in fingers, toes, tongues and ears. Large areas of dead cells and damaged finger tips are some other types of this phenomenon.
3.  Esophagus is a very broad term and is characterized by difficulty in swallowing etc. But in terms of scleroderma it causes heartburn, inflammation, and scarring. It also is diagnosed by poor functioning of muscles.
4.  Sclerodactyly refers to tightening and localized thickening of skin which leads to shiny and puffy appearance. Caused mostly in toes and fingers.
5.  Telangiectasias are small dilated blood vessels with .5 to 1mm diameter. They get developed anywhere on the body and primarily in face at cheeks, nose and chin. Legs and ankles are other parts which get affected by this. It caused tiny red areas to appear due to this.

 

Who develops Scleroderma?

Women aged from 25 to 55 are mostly prone to this disease. But men and children may also show some tendency to this disease. Also there is no genetic relation or family relation for this disease. Although this disease may run in families but nothing in particular has been found. There is still a lot of research going on for this disease since no perfect cure has been found yet for this disease.

 

Causes of Scleroderma

Causes of Scleroderma are unknown. It is a very rare disease. But chronic diseases are mostly caused due to genetic reasons. But it is not necessary that someone who gets Scleroderma then their children or their parents would have it.

Research also suggests over production of collagen as cause of Scleroderma. It can happen to anyone between the age group of 30-50 years old. Women show more tendencies of having the disease than men.

 

Symptoms of Scleroderma:

Since Scleroderma is caused in many parts of the body like fingers, toes, hair, back and also affects kidney, lungs and heart it has many symptoms. Redness, tenderness, itching, and pain are common symptoms of Scleroderma. Others are:

a. Hardening or thickening of the skin in face, neck, back, toes and fingers

b. It also affects blood vessels and organ tissues.

c. Fatigue is also another symptom

d. Swelling and pain in the fingers and toes. Also sores on fingers

e. Joint pain or stiffness

f. Raynaud’s phenomenon: cold sensitive fingers with red, white and blue discoloration

g. Abnormal weight loss

h. Gastrointestinal problems

i. Shortness of breath

j. Dry eyes and mouth

k. Ulcers and or sores.

 

Tests or Diagnosis of Scleroderma

Scleroderma is typically diagnosed using blood tests. But diagnosis of Scleroderma isn’t easy. Diagnosis of scleroderma can be done by any of the following:

a. Pathologist

b. Dermatologist

c. Orthopaedist

d. Pulmonologist

e. Rheumatologist

Diagnoses are done initially using blood tests. If Antitopoisomerase-1 or Anti-Scl-70 antibodies appear in the body then the person may have systemic scleroderma.

If Anticentromere antibodies is found in blood then limited systemic scleroderma is believed to be the cause.

However since these antibodies may be present in blood of people not having scleroderma hence lab results alone cannot be justified for scleroderma.

 Hence doctors order for full skin biopsy as well along with these lab tests.

In some cases diagnosis is very easy where rapid thickening of skin happens. But in major cases it takes months or even years for the disease to unfold and be diagnosed correctly.

 Your doctor may ask you several questions regarding inflammation, heartburn, skin thickening, changed skin appearance under hands and mouth for diagnosing scleroderma.

 Overlap or mistaken diagnosis: Often skin hardening also happen due to diabetes, mycosis fungoides,amyloidosis, and adult celiac disease.

 It also happens in cases of scleromyxedema, graft-versus-host disease,porphyria cutanea tarda, and human adjuvant disease.

 Raynauds Phenomenon is also found in other kinds of diseases like atherosclerosis or systemic lupus erythematosus as well hence proper diagnosis of scleroderma isn’t an easy task. One has to take care of symptoms carefully and do proper tests in order to identify scleroderma.

 

Treatment of Scleroderma

Scleroderma is typically countered with inflammation, vascular disease, tissue fibrosis and autoimmunity and hence therapies and medication also focus on solving and healing these problems.

Research is going on more and more in this field since there is currently no cure for scleroderma. Right now the treatment focuses on healing and reducing the symptoms, increasing the immunity of a patient, treat immediate complications and have the patch marks reduced to a great extent.

The treatments are divided into 3 parts:

1- Psoralen photochemotherapy (PUVA) 

 This therapy is done for localized Scleroderma. This is a combination of drugs using Psoralens and UVA (Ultra violet radiation). As its name suggests. It is application of cream and then exposure to SUN. PUVA therapy helps in reduction of collagen in Scleroderma. There are applied treatments as well as capsule treatment in PUVA therapy. Severe cases only are handled with PUVA therapy since it comes with its own set of side effects.

• Side effects of PUVA therapy:
• Burning due to over dosage of PUVA therapy via capsules.
• Itching or mild pricking
• Skin may become brown due to over exposure to sun.
• Extensive PUVA therapy leads to aging and or skin cancer
• Eyes may also get affected if not protected from Sun.

2- Topical photodynamic therapy 

There is still research going on in this field. However as quoted by a group of dermatologists they have successfully conducted various tests using topical photodynamic therapy and have gained very good results. Above that the most important factor is that the side effects for the therapy are much reduced and almost negligible. Hence topical photodynamic therapy is evolving rapidly and more tests are being conducted. Very few hospitals in the world right now use this therapy.

3- Drug therapy 

Drug therapy has never been an effective remedy for this kind of disease. Drugs are normally used in order to either slow down the process or else reduce the effects of inflammation, itching, pricking and scaling of skin. Drugs like methotrexate, antithymocyte globulin and cyclophosphamide have shown varying effects in patients and those cases are also not well documented. Hence the use of drug therapy in scleroderma is limited.

 👉 Some other agents and treatments used in Scleroderma are:

• Immunosuppressive agents.
• Antifibrotic agents.
• Anti-infammatory agents.
• Vasodilator agents.
• Angiotensin-converting enzyme (ACE) inhibitors.

 

👉 New research and medication developed are:

• Interferons.
• Tumor necrosis factor alpha blockers.
• Halofuginone.
• Plasmapheresis.
• Photopheresis.
• Autologous stem cell transplantation.