Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. [ https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa ]
Synonyms: epidermolysis bullosa acantholysis bullosa
Term information
- ICD9:757.39 (MONDO:relatedTo)
- NANDO:1200234 (https://orcid.org/0000-0003-0011-764X)
- MEDGEN:41832 (MONDO:equivalentTo)
- NANDO:2201000 (https://orcid.org/0000-0003-0011-764X)
- Wikipedia:Epidermolysis_bullosa (EFO:1000690)
- NCIT:C67383 (MONDO:equivalentTo)
- MESH:D004820 (MONDO:equivalentTo)
- DOID:2730 (MONDO:equivalentTo)
- SCTID:61003004 (MONDO:equivalentTo)
- UMLS:C0014527 (MONDO:equivalentTo)
- GARD:6359 (MONDO:GARD)
- EFO:1000690 (MONDO:equivalentTo)
- NANDO:2100284 (https://orcid.org/0000-0003-0011-764X)
- ICD10CM:Q81 (MONDO:equivalentTo)
gard_rare, otar, rare, nord_rare
http://identifiers.org/snomedct/61003004
http://identifiers.org/mesh/D004820
http://purl.bioontology.org/ontology/ICD10CM/Q81
http://purl.obolibrary.org/obo/DOID_2730
http://linkedlifedata.com/resource/umls/id/C0014527
http://purl.obolibrary.org/obo/NCIT_C67383
http://identifiers.org/medgen/41832