Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa (ILNEB)

ILNEB is an extremely rare disease caused by mutations in the ITGA3 gene, which encodes the integrin α3 subunit of the major adhesion complex, integrin α3β1. Disorganization of the basement membrane in skin, lungs and kidneys results in epidermolysis bullosa, interestitial lung disease and nephrotic syndrome, respectively. Patients presents in the first days of life with respiratory distress and proteinuria and later develop skin blistering characteristic of epidermolysis bullosa. The overall prognosis is poor and most cases progress to death after recurrent respiratory infections and renal failure. No specific treatment is available other than supportive measures.