A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa

Abstract

Epidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment. Approximately forty percent of patients die within the first year of life, and the quality of life of survivors is seriously compromised. Pre-pregnancy genetic counseling and prenatal diagnosis is of great clinical significance for these patients and families. We describe a rare case of dystrophic epidermolysis bullosa secondary to heterozygous mutations in COL7A1.