Epidermolysis Bullosa — EB

Why in News?

The Indian Council of Medical Research (ICMR) announced a ₹5.5-crore research grant for research into Epidermolysis Bullosa, including affordable diagnosis and precision-treatment approaches.

What is EB?

Epidermolysis Bullosa (EB) is a group of rare genetic disorders in which the skin becomes extremely fragile.

Key Feature

Even minor:

  • Friction
  • Trauma
  • Touch

can cause:

  • Blisters
  • Skin erosions
  • Wounds

Hence it is often called "Butterfly Skin Disease".

Cause

Usually caused by mutations affecting proteins responsible for maintaining adhesion between layers of the skin.

Types

Major categories include:

  • Epidermolysis bullosa simplex
  • Junctional EB
  • Dystrophic EB
  • Kindler syndrome

Complications

Severe forms may cause:

  • Chronic wounds
  • Scarring
  • Infection
  • Nutritional problems
  • Anaemia
  • Reduced mobility
  • Increased risk of squamous cell carcinoma in some severe forms

UPSC Relevance

EB is an example of:

  • Rare genetic disease
  • Importance of genetic diagnosis
  • Precision medicine
  • Affordable healthcare
  • Rare disease research in India