Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Disease Synonyms ILNEB syndrome JEB with interstitial lung disease and nephrotic syndrome Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome ILNEB syndrome JEB with interstitial lung disease and nephrotic syndrome Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome ORPHA code 306504 OMIM code 614748 ICD10 code - ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl