Scleroderma (Systemic Sclerosis)
The disease can change the way you look to some degree, but it does not have to change who you are!
- Sysytemic sclerosis or scleroderma is a very rare disease mostly effects middle aged female.
- It is characterized by hardening of skin leading to tight and shiny appearance.
- It is an autoimmune disease where body’s immune system attacks own cells and leading to excess collagen or fibrous tissue formation.
- In this disease all most all people have skin tightening of finger and whitish or bluish discoloration on cold exposure sometime leading to finger ulceration.
- Two forms of systemic sclerosis exists – – Limited Systemic sclerosis-Skin tightening limited to forearm, finger leg and face.
- – Diffuse systemic sclerosis-Skin tightening extends to arm, chest, abdomen and thigh
- Along with skin tightening there is also involvement of other organs such as joints, lung, oesophagus, kidney and heart
- The exact cause of systemic is not still known
- It is not contagious so it doesn’t transmit from one to another.
- Most people with systemic sclerosis will not have other family members with this condition.
- It is an autoimmune condition where body’s immune system defective or dysregulated because of which it attacks the healthy body
- In systemic sclerosis small blood vessel damage occur leading to finger ulceration and bluish or whitish discoloration on cold exposure (Reynod’s phenomenon)
- This is a very rare disease
- Affects four times more women than men.
- Usually occurs between 25 to 50 yrs of age
- It is extremely rare in children.
- Two forms of systemic sclerosis : limited and diffuse. – Limited Systemic sclerosis: skin tightening is limited to forearm,leg and the face and neck.
- – Diffuse Systemic sclerosis: skin tightening is more widespread and can also affect the trunk, back, thighs and arms.
- Skin- tightening of skin leading to shiny appearance of body – Face-loss of wrinkles, difficulty in opening of the mouth, cheeks may look hollow.- Salt and pepper appearance of skin because of loss of skin pigment
- CREAST Syndrome- – Calcinosis-Calcium deposition in the skin
- – Raynaud’s phenomena
- – Esophageal dysmotility-Acid reflux and decrease in motility of esophagus
- – Sclerodactyl- thickening and tightening of finger
- – Telangiectasia-blood vessel dilatation
- Other symptoms- – Muscle weakness-difficulty in getting up from squatting posture or from sleeping position
- – Fatigue-Easy fatigability
- – Scleroderma Renal Crisis-Breathlessness, Emergency situation, Severe hypertension, anemia
- – Dry eye and dry mouth
- – Cardiomyopathy
- Raynaud’s phenomenon – Tips of fingers and toes turn white and then blue and/or red in the cold exposure.
- – Sometime leading to digital ulceration.
- – Almost all systemic scleroderma patients have this raynaud’s phenomenon.
- – This usually occur more during winter months
- Heartburn and regurgitation of food- – Scleroderma affects the esophagus which connects the mouth to stomach leading to difficulty in swallowing of food
- – It can have significant heart burn
– Some patients have constipation
- – Coming out of food material into the mouth if immediately sleep after food intake.
- Lung – – breathlessness on exertion, dry cough
- Interstitial lung disease-
- Similar to skin tightening there is scarring of lung tissue leading to restriction of lung expansion. More seen in patients with diffuse systemic sclerosis
- Pulmonary Hypertension-
- Narrowing of blood vessels of the lungs leading to increase in pulmonary blood vessels. More seen in limited systemic sclerosis
- Arthritis- – Inflammation of joint leading to pain and swelling of the joint
If you are having the skin tightening of fingers or toes and bluish or whitish discoloration of fingers in cold exposure then consult a rheumatologist.
To diagnose Scleroderma it needs complete history and thorough physical examination.
Sometimes a special blood test and scans are needed
- Complete blood count-Hemoglobin, WBC, Platelet
- ESR,CRP-Acute phase reactant for inflammation
- Serum creatinine-For kidney function
- CPK,LDH-for muscle involvemet
- Special Blood test-Anti nuclear antibody (ANA)
- To detect proteinuria or hematuria
2D Echo of heart-
- For Pulmonary hypertension
- for Interstitial lung disease
- for detection of ILD (Interstitial lung disease)
6 minute walk test-
- for Pulmonary HTN
- Scleroderma has no effect on fertility.
- The chances of getting pregnant for people with scleroderma are the same as with people that don’t have it.
- Scleroderma also has no known effects on the developing fetus or the newborn.