Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Synonyms: ILNEB syndrome | JEB with interstitial lung disease and nephrotic syndrome | Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Breathe Support Network
MISSION STATEMENT The Breathe Support Networks mission is to provide support and education for pulmonary fibrosis patients and their families, helping them to better #LIVEwithPF. This includes, but is not limited to: - education about pulmonary fibrosis - guiding patients and families on how to talk to their healthcare team - providing tips to live a healthier more productive life - providing information about other pulmonary fibrosis resources
DEBRA International
Empower people with EB and their support networks, advocates, healthcare professionals, researchers, and industry with the knowledge and tools they need to better the lives of those with epidermolysis bullosa (EB) worldwide.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.