Epidermolysis bullosa with col7a1 mutation at Jiangsu university hospital: A Case report and review of the literature

Fatma M Ali; Jieyu Zhou; Qiuxia Wang; Lulu Sun; Mingyan Wang; Mbarouk Mohammed; Hongyan LUS

doi:10.30574/wjarr.2023.19.3.1668

Epidermolysis bullosa with col7a1 mutation at Jiangsu university hospital: A Case report and review of the literature

Fatma M Ali ¹, Jieyu Zhou ¹, Qiuxia Wang ¹, Lulu Sun ¹, Mingyan Wang ¹, Mbarouk Mohammed ²and Hongyan LUS ^{1, *}

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.

Case Study

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

Publication history:

Received on 09 July 2023; revised on 18 August 2023; accepted on 21 August 2023

Abstract:

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.

Keywords:

Epidermolysis Bullosa; COL7A1; Mutation

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Epidermolysis bullosa with col7a1 mutation at Jiangsu university hospital: A Case report and review of the literature

Fatma M Ali 1, Jieyu Zhou 1, Qiuxia Wang 1, Lulu Sun 1, Mingyan Wang 1, Mbarouk Mohammed 2 and Hongyan LUS 1, *

Fatma M Ali ¹, Jieyu Zhou ¹, Qiuxia Wang ¹, Lulu Sun ¹, Mingyan Wang ¹, Mbarouk Mohammed ²and Hongyan LUS ^{1, *}