Diagnosis: Epidermolysis bullosa
07.11.2023 - Presidente da República, Luiz Inácio Lula da Silva, se encontra com menino Gui no Palácio do Planalto. Brasília - DF Foto: Ricardo Stuckert / PR. Clinical photograph sourced from Wikimedia Commons (CC BY-SA 4.0). Attribution: Lula Oficial.
Blistering and erosions at sites of friction/trauma. EB simplex: mild, often hands/feet. Junctional EB: severe, generalized, mucous membrane involvement. Dystrophic EB: scarring, milia, nail dystrophy, esophageal strictures, mitten deformity of hands in severe forms.
Present at birth or early infancy. Family history pattern varies (AD or AR). Severity ranges from mild localized to lethal. Severe forms associated with: failure to thrive, anemia, SCC (in dystrophic EB — major cause of mortality), pseudosyndactyly.
No cure — supportive care is mainstay. Wound care: non-adherent dressings, gentle debridement, infection prevention. Pain management. Nutritional support (iron, zinc, protein). Monitor for SCC in dystrophic EB. Gene therapy and protein replacement in clinical trials.
Bullous impetigo, Staphylococcal scalded skin syndrome, Pemphigus, Incontinentia pigmenti, Aplasia cutis congenita
Immunofluorescence mapping and electron microscopy determine the level of cleavage for classification. Patients with recessive dystrophic EB have markedly increased risk of SCC (cumulative risk >90% by age 55). Multidisciplinary care is essential.
Tags: epidermolysis bullosa, genetic, blistering, mechanobullous, congenital