Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Definition
A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.
Also known as congenital ILNEB syndrome, congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome, congenital NEP syndrome, congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome, congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome, JEB with respiratory and renal involvement, JEB-RR — per MONDO