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Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Disease 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.
ORPHA:306504
Classification level: Disorder- Synonym(s):
- ILNEB syndrome
- JEB with interstitial lung disease and nephrotic syndrome
- Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: J84.8
- OMIM: 614748
- UMLS: C4518785
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016) Japanese (2019, pdf)
Detailed information
Guidelines
- Clinical practice guidelines
- English (2012) - Int J Paediatr Dent
- English (2014) - Orphanet J Rare Dis
- English (2014) - BMC Med
- Français (2015) - PNDS
- English (2016) - Br J Dermatol
- English (2017, pdf) - Wounds International
- Español (2017, pdf) - Wounds International
- Français (2017) - PNDS
- English (2019, pdf) - Debra International
- English (2019, pdf) - Debra International
- English (2019) - Orphanet J Rare Dis
- English (2019) - Orphanet J Rare Dis
- English (2020) - Br J Dermatol
- English (2020) - Br J Dermatol
- English (2020) - Orphanet J Rare Dis
- English (2021) - Kidney Int
- English (2022) - Eur Respir J
- Anesthesia guidelines
- Czech (2020) - Orphananesthesia
- English (2020) - Orphananesthesia
Disease review articles
- Review article
- English (2010) - Orphanet J Rare Dis
- Clinical genetics review
- English (2018) - GeneReviews
produced/endorsed by ERN(s) produced/endorsed by FSMR(s)Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.