A 43 Year Old Lady Presents With Dysphagia And Feelings Of Skin Tightening.

A 43 year old woman is seen by a General physician where she complains of difficulty swallowing and associated chest pain that started a few years ago and has gradually progressed. It mostly occurs with solid foods and drinking a lot of liquid and taking very small bites helps in swallowing. She denies any regurgitation of food or any history of weight loss. The patient reports that she often feels her skin of the fingers and face getting tight as well episodes of bluish discoloration of finger tips on exposure to cold.
During the Physical Examination the picture of her hands was taken that is shown below:

What is the most probable Diagnosis?
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CREST Syndrome.

Case Discussion:
CREST syndrome is also known as Limited scleroderma which is an autoimmune disorder and it is characterized by:

• Calcinosis
• Raynaud's Phenomenon.
• Esophageal dysmotility.
• Sclerodactyly. and 
• Telangiectasia. 

Limited scleroderma may be mild and there may be minimal skin changes. 

Women are more prone to be affected.

Clinical Features: The disease usually progresses slowly. The patients presents with:

1. Tight Hardened Skin: The skin gets tight and hard with calcific nodules known as calcinosis. In limited sclerosis it usually affects the arm and the legs including the fingers and the toes and sometimes the face. Skin looks shiny and in advaced cases it becomes difficult to open the mouth.

2.  Raynaud,s Phenomenon: This condition occurs when the small blood vessels of the fingers and toes goes into spasm in response to cold exposure or emotional stress. This leads to blocking of blow flow which results in the skin turning white, before becoming blue, cold and numb. It may be one of the earliest signs of scleroderma.

3. Red spots On The Skin: Theses red spots or telangiectasia are dilated capillaries that may be seen on the skin of the face, palmar surface of the hands and the mucous membranes. 

4. Skin Bumps And Edema: The skin develops calcium deposits that lead to feelings of bumps mainly on the fingers, elbows and knees. Sometimes they get tender and edematous and can also get infected

5. Swallowing Difficulties: Abnormalities in the mobility of the esophagus leads to difficulty in swallowing. Patients may present with feeling of food stuck in the esophagus and atypical chest pain and cough.

Diagnosis: is sometimes difficult if all the characteristic features are not present or sometimes when it occurs along with other autoimmune and connective tissue disorders. 

• Limited scleroderma is associated with early rise of ANA levels.
• Anticentromere antibodies are present in appx 50 -90% of patients.
• Anti Scl 70 antibody is associated with diffuse scleroderma.
• Esophageal endoscopy and barium swallow are done to evaluate for dyphagia. 

Treatment: Although there is no known cure patients need psychological support and symptomatic treatment. 

1. Antacids can be given to treat the symptoms of reflux and heart burn,

2. Topical antibiotics may be needed to treated skin ulcers and infections. 

3. In some cases immunosuppresive drugs slow the disease progression.

4. Physiotherapy is needed to prevent loss of joint mobility.