Epidermolysis Bullosa

Epidermolysis Bullosa Latest News

Recently, a medical college in Karnataka has received a ₹5.5-crore research grant from the Indian Council of Medical Research (ICMR) to develop affordable diagnostic and precision treatment approaches for epidermolysis bullosa (EB).

About Epidermolysis Bullosa

• It is a rare genetic disorder that causes extreme skin fragility.
• It comprises a group of inherited disorders in which minor friction or trauma can cause blistering and wounds.
• Patients can develop chronic wounds, scarring, nutritional complications and an increased risk of skin cancer.
• There are four types of epidermolysis bullosa (EB), all caused by different genetic mutations: 
  • EB simplex (EBS)
  • Junctional EB (JEB)
  • Dystrophic EB (DEB)
  • Kindler’s syndrome
• EB simplex is the mildest and most common form of EB, while Junctional EB and Dystrophic EB are relatively less common and affect the patient more severely. 
• Kindler’s syndrome is a mix of the other types of EB.
• Cause: It is caused by an inherited gene. One may inherit the disease gene from one parent who has the disease (autosomal dominant inheritance) or from both parents (autosomal recessive inheritance).
• Symptoms
  • Fragile skin that blisters easily, especially on the palms and feet
  • Nails that are thick or unformed
  • Blisters inside the mouth and throat
  • Scalp blistering and hair loss (scarring alopecia)
  • Tiny pimple-like bumps (milia)
  • Itchy, painful skin
• Treatment: There’s currently no cure for EB, so treatment aims to relieve symptoms and prevent complications developing.

Source: TH

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