Keywords
Psychosocial factors
Human genetics
Quality of life
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Abstract
Objective: To report the case of a 24-year-old woman with recessive dystrophic EB. Case detail: With no confirmed family history, she presented symptoms at birth and was diagnosed at two years of age. Manifestations include blisters that evolve into wounds, occasional pain, and severe anemia. She also lives with IgE nephritis, which worsens her clinical condition, but despite the lesions, she does not have dietary restrictions or esophageal involvement. The patient reports constant coexistence with the disease since birth without initial shock. She faced social and school prejudices, highlighting the lack of sensitivity in society. She uses imported dressings provided by a laboratory linked to DEBRA and considers them, along with psychological support, essential to deal with the disease. The case reinforces the need for visibility, inclusive policies, and professional training for the adequate management of EB and support for patients and families. Final considerations: This highlights not only the clinical complexity of recessive dystrophic epidermolysis bullosa, but also the profound psychosocial impacts faced by individuals living with this rare condition.
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