1 Department of Paediatrics, the affiliated hospital of Jiangsu University, Zhenjiang, Jiangsu, China.
2 Department of Urology, Al-Rahma Hospital, P.O. Box 281, Zanzibar, Tanzania.
World Journal of Advanced Research and Reviews, 2023, 19(03), 451–455
Article DOI: 10.30574/wjarr.2023.19.3.1668
DOI url: https://doi.org/10.30574/wjarr.2023.19.3.1668
Received on 09 July 2023; revised on 18 August 2023; accepted on 21 August 2023
We describe a case of a new born Chinese male baby who was diagnosed with Epidermolysis Bullosa (EB), a rare genetic skin illness that causes particular blisters to appear on the baby's lower limbs immediately after delivery. The flaw results from the skin's reduced ability to adhere to supporting tissue, which makes it brittle. Through carrier mother inheritance, genetic testing identified our case as an EB patient with Aplasia Cutis Congenita after a nucleotide alteration in the COL7A1 gene.
Epidermolysis Bullosa; COL7A1; Mutation
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Fatma M Ali, Jieyu Zhou, Qiuxia Wang, Lulu Sun, Mingyan Wang, Mbarouk Mohammed and Hongyan LUS. Epidermolysis bullosa with col7a1 mutation at Jiangsu university hospital: A Case report and review of the literature. World Journal of Advanced Research and Reviews, 2023, 19(03), 451–455. Article DOI: https://doi.org/10.30574/wjarr.2023.19.3.1668
Copyright © 2023 Author(s) retain the copyright of this article. This article is published under the terms of the Creative Commons Attribution Liscense 4.0