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Epidermolysis bullosa: Year of the Zebra

Series destacadasAño de la Cebra (enfermedades raras)Sistema tegumentario
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en inglés

Rafi's Epidermolysis Bullosa Story | The Worst Disease You've Never Heard Of"

Rafi's Epidermolysis Bullosa Story | The Worst Disease You've Never Heard Of"

Imagine having open wounds on over half your skin… all day, every single day. Imagine burning pain all over that feels like antiseptic poured on a new cut. It’s unfortunately not imagination, but the reality of the plenty living with what has been called by some 'the worst disease you’ve never heard of'. Epidermolysis Bullosa is a genetic skin disorder resulting in defective production of proteins that hold skin layers together. The result is the formation of blisters especially in areas exposed to mechanical injury or repeated friction such as the hands, feet, shoulders, and above the spine. In some cases, the damage is not only on skin that we see. The digestive system may be affected, making eating difficult. Even when blisters heal, the scarring left behind may cause complications of its own, possibly needing medical intervention regularly. Furthermore, constantly having open wounds increases the risk of life-threatening infections as well as some forms of cancer. The complications don’t stop there and, until now, there is no cure. Follow the link to the dedicated Osmosis video to learn more.

Year of the Zebra

Fuentes

  1. "Epidermolysis bullosa" Nature Reviews Disease Primers (2020)
  2. "Prenatal Diagnosis of Epidermolysis Bullosa" Dermatologic Clinics (2010)
  3. "Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa" British Journal of Dermatology (2019)
  4. "Diagnosis, treatment and management of epidermolysis bullosa" British Journal of Nursing (2016)

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