EC30
category
Epidermolysis bullosa simplex
Definition
Epidermolysis bullosa simplex is the name given to a heterogeneous group of genetically-determined defects in epidermal cell-cell adhesion. These give rise to blistering in response to frictional and shearing stresses.
Also indexed as
Acantholytic epidermolysis bullosaAutosomal dominant basal epidermolysis bullosa simplexAutosomal recessive basal epidermolysis bullosa simplexAutosomal recessive epidermolysis bullosa simplex due to BP230 deficiencyBasal EBS - [basal epidermolysis bullosa simplex]Basal epidermolysis bullosa simplexEBS - [epidermolysis bullosa simplex] Dowling-MearaEBS - [epidermolysis bullosa simplex] autosomal recessiveEBS - [epidermolysis bullosa simplex] migratory circinateEBS - [epidermolysis bullosa simplex] new subtypeEBS - [epidermolysis bullosa simplex] non-Dowling-MearaEBS - [epidermolysis bullosa simplex] other specified autosomal recessiveEBS - [epidermolysis bullosa simplex] superficialisEBS - [epidermolysis bullosa simplex] with mottled pigmentationEBS - [epidermolysis bullosa simplex] with muscular dystrophyEBS - [epidermolysis bullosa simplex] with pyloric atresiaEBS, Ogna - [epidermolysis bullosa simplex, Ogna]EBS, gen-nDM - [generalised epidermolysis bullosa simplex, non-Dowling-Meara]EBS-AR - [epidermolysis bullosa simplex, autosomal recessive]EBS-AR BP230EBS-AR K14 - [epidermolysis bullosa simplex - autosomal recessive keratin 14]EBS-AR exophilin 5EBS-DM - [generalised epidermolysis bullosa simplex, Dowling-Meara]EBS-MD - [epidermolysis bullosa simplex with muscular dystrophy]EBS-MP - [epidermolysis bullosa simplex with mottled pigmentation]EBS-Og - [epidermolysis bullosa simplex, Ogna]EBS-PA - [epidermolysis bullosa simplex with pyloric atresia]EBS-acanthEBS-gen intermedEBS-gen sev - [epidermolysis bullosa simplex generalised type]EBS-plakoglobinEBS-plakophilinEBSS - [epidermolysis bullosa simplex superficialis]ED – SF - [Ectodermal dysplasia – skin fragility] syndrome (MIM 604536)Ectodermal dysplasia – skin fragility syndromeEpidermolysis bullosa herpetiformisEpidermolysis bullosa simplexEpidermolysis bullosa simplex superficialisEpidermolysis bullosa simplex with limb-girdle muscular dystrophyEpidermolysis bullosa simplex with mottled pigmentationEpidermolysis bullosa simplex with muscular dystrophyEpidermolysis bullosa simplex with pyloric atresiaEpidermolysis bullosa simplex, OgnaEpidermolysis bullosa simplex, Weber-CockayneEpidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiencyEpidermolysis bullosa simplex, autosomal recessive keratin 14 deficiencyEpidermolysis bullosa simplex, generalised intermediateEpidermolysis bullosa simplex, generalised severeEpidermolysis bullosa simplex, localisedEpidermolysis bullosa simplex, migratory circinateEpidermolytic epidermolysis bullosaLAEBLAEB - [lethal acantholytic epidermolysis bullosa] due to desmoplakin deficiency (MIM 609638)Lethal acantholytic epidermolysis bullosaPlakophilin 1 deficiencySkin fragility - ectodermal dysplasia syndromeSkin fragility - plakoglobin deficiencySuprabasal EBSSuprabasal epidermolysis bullosa simplexlocalised EBS- [epidermolysis bullosa simplex]