You are using an outdated browser. Please upgrade your browser to improve your experience.

epidermolysis bullosa

Disease Summary
Associated Targets (22)
Tbio

20

Tchem

2


GARD Rare
Mondo Description 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.
Disease Ontology Description A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.
Mondo Term and Equivalent IDs
MONDO:0006541:  epidermolysis bullosa
COHD:4246290: 
EFO:1000690: 
GARD:0006359: 
ICD10:Q81: 
MESH:D004820: 
NCIT:C67383: 
SCTID:61003004: