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Case Report: Two neonatal cases of genetically confirmed junctional epidermolysis bullosa in a tertiary care center

Year: 2026

Type: article

Abstract: Background: Epidermolysis bullosa (EB) comprises a group of genetically heterogeneous disorders caused by defects in proteins responsible for dermoepidermal adhesion. Severe forms frequently present in the neonatal period and may be associated with early extracutaneous involvement, reflecting the widespread expression of these structural proteins beyond the skin. Case presentation: We report two term neonates presenting at birth with extensive mucocutaneous blistering. The first neonate demonstrated congenital skin fragility associated with radiologic evidence of pyloric atresia. Surgical correction was performed, and genetic testing was conducted to clarify the underlying subtype. The second neonate developed rapidly progressive blistering with nail involvement, mucosal lesions, and electrolyte disturbance. A molecular analysis by whole-exome sequencing identified biallelic pathogenic truncating variants in LAMB3 (c.3043C>T [p.Gln1015*] and c.3247C>T [p.Gln1083*]), confirming autosomal-recessive junctional EB. Early genetic evaluation allowed for precise subtype classification and informed multidisciplinary management and family counseling. Discussion: These cases highlight several important aspects of neonatal care. Early extracutaneous manifestations, particularly gastrointestinal and urogenital involvement, should raise suspicion for integrin- and laminin-related EB subtypes. Prompt genetic testing is essential in the neonatal period to distinguish between clinically overlapping EB phenotypes, refine the prognosis, and guide anticipatory management. Supportive care requires significant modification to routine neonatal practices, including atraumatic handling, specialized wound and mucosal care, nutritional optimization, and close surveillance for systemic complications. The identified mutations further contribute to emerging genotype-phenotype correlations in severe EB. Conclusion: Severe EB presenting at birth represents a life-threatening multisystem disorder rather than an isolated skin disease. Early genetic diagnosis is essential for accurate classification, prognosis, and family counseling. Detailed neonatal case reports with molecular characterization contribute to improved clinical recognition and understanding of genotype-phenotype correlations in EB.

Source: Frontiers in Pediatrics

DOI: 10.3389/fped.2026.1785578