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Informative Article | Pediatrics | Colombia | Volume 13 Issue 2, February 2024 | Popularity: 4.7 / 10
Congenital Epidermolysis Bullosa, in Neonatal Intensive Care Unit: Case Report and State-of-the-Art
William Quessep - Mendoza, Maria Acevedo, Luis Rodriguez, Jose Contreras, Oscar Osorio
Abstract: Epidermolysis bullosa (EB) is a rare hereditary disease, characterized by fragility in the skin and mucous membranes; This is a consequence of mutations in structural proteins of the skin. Reports indicate pathogenic variants in 16 different genes, with more than 1000 mutations. These can be de novo or follow an autosomal dominant or recessive inheritance pattern. There are approximately 30 clinical subtypes, grouped into four main types: Simple EB, Union EB, Dystrophic EB, and Kindler Syndrome. The clinical manifestation is characterized by the presence of lacerations, ulcers, blisters, trauma, abnormal wound healing, skin atrophy and depigmentation, the diagnosis is clinical, confirmed by biopsy by electron microscopy and indication of complete exomic sequencing. Treatment is always directed to the severity of the lesions and individualized. We detail a case identified in a tertiary institution in Barranquilla, Colombia, encompassing the clinical presentation, diagnosis, differential diagnoses, therapeutic approaches, underpinned by a bibliographic review covering EBs definition, classification, pathophysiology, and clinical picture. This report emphasizes the importance of a multidisciplinary approach in managing such complex cases.
Keywords: Epidermolysis bullosa, mutations, hemidesmosomes, keratinocytes, biopsy
Edition: Volume 13 Issue 2, February 2024
Pages: 713 - 719
DOI: https://www.doi.org/10.21275/SR24124084428
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