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Diagnosis

If your physician suspects a diagnosis of EB, he or she will perform a skin biopsy. The biopsy of a fresh blister will be sent to a laboratory so that the cells of the skin can be analyzed under a microscope by a trained healthcare provider (dermatopathologist). Once viewed under a microscope, a diagnosis of EB can be made based on the structural and histochemical features of the skin. It is important that fresh blisters be biopsied to accurately diagnose EB. Blisters more than 12 hours old should not be biopsied.

The healthcare provider may want to perform genetic testing to confirm more specifically the type of EB that you have. This is not a first-line diagnostic test for EB, because there is limited availability and high cost involved. Blood samples are obtained from the patient and his or her parents and sent out for genetic mutation identification at specialized facilities. Genetic testing is commonly performed in patients with Kindler syndrome, in newborns that are the first affected members in the family, and in families with a severely affected child.

 Treatment

Depending on the type of EB, and the various parts of the body that are affected with blisters, different healthcare professionals can be involved in the care of the patient. This condition benefits from multidisciplinary care. The healthcare professionals that can be involved include: dermatologists, specialized EB nurses, pediatricians, geneticists, dentists, gastroenterologists, podiatrists, occupational therapists, dieticians, social workers and plastic surgeons.

There is currently no cure for EB. However, there are several important aspects of managing patients with EB:

  • Preventing blisters: One of the primary goals in treating EB is to prevent blistering as much as possible. Blistering will be inevitable, but you want to limit the amount of trauma inflicted on the skin. It is important that individuals be dressed in soft clothing to avoid rubbing the skin against rough clothing material and seams. The tags of the clothing should be removed. Use padding on the surfaces the individual rests on as they can cause friction (e.g. chairs, beds, car seats).
  • Wound care: Blisters should be popped with a sterile needle, as this can help facilitate the healing process and allow for greater patient comfort. After it has been punctured, keep the roof of the blister on the skin to improve healing. Place an appropriate solution, cream and/or dressing onto the blister after it has been drained.
  • Infection control: Topical treatments and regular baths with or without bleach can help decrease the likelihood of a skin infection. If an infection is present, topical or oral antibiotics can be used for treatment.
  • Diet: There are no dietary guidelines established for patients with EB. However, it is better if the food provided to the individual be soft so that there is a decreased chance of developing blisters within the lining of the mouth, throat and esophagus. EB patients with wounds present in their gut may require dietary supplementation of iron and other vitamins and minerals. Consulting with a dietician can help provide more thorough information.

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