I-TASSER and PyMOL software were used to examine the structural and functional implications of the identified mutant proteins.<h4>Results</h4>The study identified an autosomal-dominant form of epidermolysis bullosa simplex (EBS) in the family, attributed to a novel missense variation c.A527G (D176G) in the <i>ITGB4</i> gene. The gene discussed is ITGB4; the disease is epidermolysis bullosa simplex.