EC30
Epidermolysis bullosa simplex
Epidermólise bolhosa simples
CategoryDefinition
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.
Index Terms
Epidermolysis bullosa simplexEpidermolytic epidermolysis bullosaSuprabasal epidermolysis bullosa simplexSuprabasal EBSAcantholytic epidermolysis bullosaLAEB - [lethal acantholytic epidermolysis bullosa] due to desmoplakin deficiency (MIM 609638)EBS-acanthLAEBLethal acantholytic epidermolysis bullosaEpidermolysis bullosa simplex superficialisEBS - [epidermolysis bullosa simplex] superficialisEBSS - [epidermolysis bullosa simplex superficialis]Ectodermal dysplasia – skin fragility syndromePlakophilin 1 deficiencyED – SF - [Ectodermal dysplasia – skin fragility] syndrome (MIM 604536)EBS-plakophilinSkin fragility - ectodermal dysplasia syndromeSkin fragility - plakoglobin deficiencyEBS-plakoglobinBasal epidermolysis bullosa simplexBasal EBS - [basal epidermolysis bullosa simplex]Autosomal dominant basal epidermolysis bullosa simplexEpidermolysis bullosa simplex, localisedEpidermolysis bullosa simplex, Weber-Cockaynelocalised EBS- [epidermolysis bullosa simplex]Epidermolysis bullosa simplex with mottled pigmentationEBS - [epidermolysis bullosa simplex] with mottled pigmentationEBS-MP - [epidermolysis bullosa simplex with mottled pigmentation]Epidermolysis bullosa simplex, OgnaEBS, Ogna - [epidermolysis bullosa simplex, Ogna]EBS-Og - [epidermolysis bullosa simplex, Ogna]Epidermolysis bullosa simplex, generalised severeEpidermolysis bullosa herpetiformisEBS-DM - [generalised epidermolysis bullosa simplex, Dowling-Meara]EBS - [epidermolysis bullosa simplex] Dowling-MearaEBS-gen sev - [epidermolysis bullosa simplex generalised type]Epidermolysis bullosa simplex, generalised intermediateEBS, gen-nDM - [generalised epidermolysis bullosa simplex, non-Dowling-Meara]EBS - [epidermolysis bullosa simplex] non-Dowling-MearaEBS-gen intermedAutosomal recessive basal epidermolysis bullosa simplexEpidermolysis bullosa simplex, migratory circinateEBS - [epidermolysis bullosa simplex] migratory circinateEpidermolysis bullosa simplex with muscular dystrophyEBS-MD - [epidermolysis bullosa simplex with muscular dystrophy] (MIM 226670)EBS - [epidermolysis bullosa simplex] with muscular dystrophyEpidermolysis bullosa simplex with limb-girdle muscular dystrophyEpidermolysis bullosa simplex with pyloric atresiaEBS-PA - [epidermolysis bullosa simplex with pyloric atresia]EBS - [epidermolysis bullosa simplex] with pyloric atresiaAutosomal recessive epidermolysis bullosa simplex due to BP230 deficiencyEBS - [epidermolysis bullosa simplex] new subtypeEBS - [epidermolysis bullosa simplex] other specified autosomal recessiveEBS-AR BP230Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiencyEBS-AR - [epidermolysis bullosa simplex, autosomal recessive]EBS - [epidermolysis bullosa simplex] autosomal recessiveEBS-AR exophilin 5Epidermolysis bullosa simplex, autosomal recessive keratin 14 deficiencyEBS-AR K14 - [epidermolysis bullosa simplex - autosomal recessive keratin 14]