International Journal For Multidisciplinary Research

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Two-days Old Newborn with Epidermolysis Bullosa Simplex: Severe Subtype

Author(s) Hamza Haj Mohamad, Amna AlKetbi, Maria Hasani, Shahad Alameeri, Omar Haj Mohamad, Dana Haj Mohamad
Country United Arab Emirates
Abstract This case report details a rare instance of severe epidermolysis bullosa simplex (EBS) in a two-day-old neonate with distinctive clinical features. The patient exhibited extensive blistering on the hands, tongue, face, and ears, prompting admission to the Neonatal Intensive Care Unit. Ge-netic testing confirmed a heterozygous dominant negative mutation on the KRT14 gene, confirming the diagnosis of severe EBS. Laboratory findings revealed leukocytosis and electrolyte abnormalities, while biopsy examination showcased subepidermal blisters. The neonate received supportive management, including nasogastric tube feeding and wound care, resulting in improvement and subsequent discharge with a follow-up plan. Discussion delves into EB classification, emphasizing the unique features of severe EBS. A succinct comparison table outlines clinical distinctions among localized, intermediate, severe, and mottled pigmentation EBS. This case highlights the complexities in diagnosing and managing severe EBS in neonates and advocates for further research to establish comprehensive treatment guidelines, especially in newborns, and explore emerging therapies for epidermolysis bullosa.
Keywords newborn epidermolysis bullosa, blistering skin disorder, epidermolysis bullosa simplex, fragile skin.
Field Medical / Pharmacy
Published In Volume 6, Issue 1, January-February 2024
Published On 2024-02-22
Cite This Two-days Old Newborn with Epidermolysis Bullosa Simplex: Severe Subtype - Hamza Haj Mohamad, Amna AlKetbi, Maria Hasani, Shahad Alameeri, Omar Haj Mohamad, Dana Haj Mohamad - IJFMR Volume 6, Issue 1, January-February 2024. DOI 10.36948/ijfmr.2024.v06i01.13268
DOI https://doi.org/10.36948/ijfmr.2024.v06i01.13268
Short DOI https://doi.org/gtjt22
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