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Article Abstract
We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic variant in the gene (c.467G>A, p.Arg156His). A multidisciplinary approach is essential for accurate diagnosis and treatment of neonatal blistering conditions.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12307240 | PMC |
| http://dx.doi.org/10.1002/ccr3.70682 | DOI Listing |
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