EC31
Junctional epidermolysis bullosa
Epidermólise bolhosa juncional
CategoryDefinition
Junctional (lucidolytic) epidermolysis bullosa is due to defects at the level of the lamina lucida of the epidermal basement membrane. The generalised severe form (Herlitz) is associated with widespread mucosal involvement of internal organs and has a high mortality in infancy.
Index Terms
Junctional epidermolysis bullosaJunctional EB - [epidermolysis bullosa]JEB - [junctional epidermolysis bullosa]Lucidolytic epidermolysis bullosaJunctional epidermolysis bullosa, generalised typesJunctional epidermolysis bullosa, generalised severeEpidermolysis bullosa letalisHerlitz syndromeHerlitz junctional epidermolysis bullosa gravisJEB-H - [junctional epidermolysis bullosa, Herlitz]JEB-gen sev - [junctional epidermolysis bullosa, generalised severe]Junctional epidermolysis bullosa, generalised intermediate typeGABEB - [generalised atrophic benign epidermolysis bullosa]JEB-nH gen - [junctional epidermolysis bullosa, non-Herlitz, generalised]JEB - [junctional epidermolysis bullosa] non-Herlitz, generalisedgeneralised atrophic benign epidermolysis bullosaJEB-gen intermed - [junctional epidermolysis bullosa]Junctional epidermolysis bullosa with pyloric atresiaJEB - [junctional epidermolysis bullosa] with pyloric atresiaJEB-PA - [junctional epidermolysis bullosa with pyloric atresia]Junctional epidermolysis bullosa, late onsetEpidermolysis bullosa progressivaJEB - [junctional epidermolysis bullosa] late onsetJEB-LO - [junctional epidermolysis bullosa late onset]Junctional epidermolysis bullosa with respiratory and renal involvementJunctional epidermolysis bullosa, localised typesJunctional epidermolysis bullosa, localisedJEB-nH loc - [junctional epidermolysis bullosa, non-Herlitz, localised]JEB - [junctional epidermolysis bullosa] non-Herlitz, localisedJEB-loc - [junctional epidermolysis bullosa, localisedJunctional epidermolysis bullosa inversaJEB - [junctional epidermolysis bullosa] inversaJEB-inv - [junctional epidermolysis bullosa inversa]Junctional epidermolysis bullosa, LOCLaryngo-onycho-cutaneous syndromeShabbir syndromeLOGICJEB-LOC - [junctional epidermolysis bullosa laryngo-onycho-cutaneous] syndromeLOC - [laryngo-onycho-cutaneous] syndrome