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.

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