/epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

Rare Disease

MONDO:0013881

Also Known As

JEB with respiratory and renal involvementJEB-RRcongenital ILNEB syndromecongenital NEP syndromecongenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndromecongenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndromecongenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndromeILNEBinterstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenitaljunctional epidermolysis bullosa with respiratory and renal involvement

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.