ABSTRACT
Epidermolysis bullosa is an inherited group of disorders characterized by blistering of the skin and mucous membrane that develop spontaneously as a result of minor friction or trauma. Fragile skin and easily inducible blisters and erosions are the hallmark features of epidermolysis bullosa. There are approximately 30 phenotypically or genetically distinct entities. Based on the level of blisters, epidermolysis bullosa has been classified into epidermolysis bullosa simplex (intraepidermal), junctional (within the dermoepidermal), dystrophic (below the basement membrane), and Kindler syndrome (mixed). Subtypes of the epidermolysis bullosa are classified based on phenotype features, distribution, severity, granulation tissue, pigmentation, scarring, milia, nail involvement, extracutaneous features, and complications. Many variants of epidermolysis bullosa die prematurely, and most of the deaths occur in childhood. Most complications and death are seen in the junctional variant. The most common complications include sepsis, upper airway occlusion, pneumonia, renal failure, and failure to thrive, eventually leading to death. Squamous cell carcinoma usually develops after 15 years in generalized severe junctional and recessive dystrophic epidermolysis bullosa. Rare complications include tracheolaryngeal strictures, interstitial pneumopathy, nephrotic syndrome, and urethral strictures. Skin biopsy for ultrastructural examination and antigen mapping is necessary to know the type. Management is mainly supportive and focused on minimizing new blisters, preventing infection, providing nutritional support, caring for wounds, managing potential complications, and providing psychological support to patients and family members.
