Neonatal autosomal recessive dystrophic epidermolysis bullosa caused by compound heterozygous COL7A1 variants: a case...

Epidermolysis bullosa (EB) is a rare inherited blistering disorder characterized by extreme skin fragility. Autosomal recessive dystrophic EB (RDEB) represents one of the most severe subtypes, typically presenting at birth with widespread cutaneous and mucosal involvement. Management during the neonatal period is particularly challenging, and early diagnosis with appropriate supportive care is essential.

We report the case of a full-term female neonate who developed generalized bullous skin lesions and oral mucosal involvement shortly after birth. Infectious causes were excluded. Genetic analysis identified two heterozygous pathogenic frameshift variants in the COL7A1 gene, inherited from each parent, consistent with RDEB. The infant received individualized supportive management, including a thermally controlled environment, protective handling, and structured local wound care. With meticulous nursing care, the skin lesions improved significantly, and caregivers were instructed on appropriate home-based wound management.

This case highlights the importance of early genetic confirmation and comprehensive nursing care for neonates with RDEB. Structured wound care protocols and early caregiver education may help stabilize skin lesions and ensure continuity of care during the neonatal period. Long-term follow-up and continuous multidisciplinary support remain important for maintaining skin integrity and optimizing the quality of life of affected patients. This case also provides practical experience for the early management of neonatal RDEB in clinical practice.