Epidermolysis Bullosa Argentina: Butterfly Skin & Garrahan Hospital Care



Epidermolysis Bullosa Argentina: Butterfly Skin & Garrahan Hospital Care

Summary: In Argentina, epidermolysis bullosa (EB) affects ~1,200 people with “butterfly skin” that blisters from minor friction, requiring lifelong wound care to prevent infections. Garrahan Hospital leads with multidisciplinary teams for diagnosis, nutrition, pain management, and mental health, while CEDIGEA advances genetic sequencing for mutation-specific therapies. Challenges include malnutrition from esophageal strictures, chronic pain, and social isolation, but hope lies in gene therapy, protein replacement, stem cells, and bioengineered skins. Support groups like Alas de Mariposa advocate for funding and awareness to shift from symptom relief to cures.

Key Highlights:

  • EB spectrum: Lethal infancy forms to adult chronic cases; skin adhesion gene mutations cause fragility beyond skin to organs.
  • Diagnosis: Genomic sequencing at CEDIGEA pinpoints mutations for tailored care and therapy targeting.
  • Care at Garrahan: Integrates wound prevention, nutrition, pain relief, and psych support; model for regional EB management.
  • Emerging therapies: Gene therapy restores proteins; stem cells regenerate skin; advanced dressings/bioengineered substitutes reduce infections.
  • Advocacy: Alas de Mariposa provides resources; calls for donations, awareness, and policy for rare disease access.

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    Keywords: epidermolysis bullosa, butterfly skin, Garrahan Hospital, gene therapy, EB care