A long-term survivor of ITGA3-related infantile lethal nephrotic syndrome with epidermolysis bullosa

Infantile lethal nephrotic syndrome with epidermolysis bullosa (ILNEB) syndrome is an autosomal recessive genodermatosis caused by biallelic variants in ITGA3 (integrin subunit alpha 3; 17q21.33), disrupting α3β1 integrin-mediated adhesion in epithelial basement membranes. Canonical features-progressive interstitial lung disease (ILD), congenital/infantile nephrotic syndrome (CNS/INS), and junctional epidermolysis bullosa (JEB)-manifest neonatally with >95% mortality by age 2 years across 22 reported cases. A 9-year-old female from consanguineous pedigree presented with chronic respiratory insufficiency, stunting, mechanobullous dermatosis, and nephrotic-range proteinuria (4.95 g/1.73 m²/day). Multimodal diagnostics, including histopathology and trio-exome sequencing, confirmed homozygous in ITGA3 exon 8, diagnostic of ILNEB. Despite multisystem involvement, multidisciplinary palliation yielded sustained remission. This index case of protracted survival delineates ITGA3-related phenotypic heterogeneity, advocates genomic ascertainment in paediatric ILD-CNS-JEB triads, and posits supportive therapies as longevity modifiers.