Epidermolysis Bullosa

Loosening of the epidermis, with extensive blistering of the skin and mucous membranes, occurring either after injury or as a spontaneous and potentially dangerous condition, particularly in children.

Symptoms: Epidermolysis bullosa signs and symptoms include: A. Fluid-filled blisters on the skin, especially on the hands and feet due to friction. B. Deformity or loss of fingernails and toenails. C. Internal blistering, including on the vocal cords, esophagus and upper airway. D. Skin thickening on the palms and the soles of the feet.

Diagnosis: Laboratory tests are needed to confirm the diagnosis: a.Skin biopsy for immunofluorescent mapping. b. Genetic testing. c. Prenatal testing.

Treament: 1.An oral anti-inflammatory drug (corticosteroid) may help reduce the pain from dysphagia (difficulty swallowing). 2.Surgery 3.Rehabilitation therapy 4.Researchers investigating treaments. a. Gene therapy b.Bone marrow transplantation c.Protein replacement therapies d.Cell-based therapies.

Epidemology: Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) report an incidence rate of 3.6 per million per year for junctional EB over the period 2007 to 2011 .Data from the Australasian EB Registry provided a prevalence estimate of 10 cases per million live births.