alexa Epidermolysis bullosa | Netherlands| PDF | PPT| Case Reports | Symptoms | Treatment

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Epidermolysis Bullosa

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  • Epidermolysis bullosa

    Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. Recent discoveries of the molecular basis of epidermolysis bullosa have resulted in the development of new diagnostic tools, including prenatal and preimplantation testing.

    Epidermolysis bullosa is classified into 3 major categories, including:

    1. epidermolysis bullosa simplex (intraepidermal skin separation)
    2. junctional epidermolysis bullosa (skin separation in lamina lucida or central BMZ) and
    3. dystrophic epidermolysis bullosa (sublamina densa BMZ separation
  • Epidermolysis bullosa

    Symptoms

    The symptoms of the disease mainly includes:

    • Blistering of skin
    • Tooth decay
    • Deformed fingers and toe nails
    • Scalp blistering
    • Excessive sweating
  • Epidermolysis bullosa

    Diagnosis and Treatment

    The diagnosis is done by performing a biopsy and physical examination. Routine histologic analysis is useful only for excluding other causes of blistering.The evaluation of Gene therapy for non-lethal junctional epidermolysis bullosa has been performed and shown to be efficacious in a small trial of one patient. In gene therapy, the goal is to deliver genes targeted to restore normal protein production. anemia using CBC count with iron studies in patients with severe epidermolysis bullosa, especially recessively inherited epidermolysis bullosa. There is no proper cure for this disease.

 

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