Autosomal recessive epidermolysis bullosa simplex
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Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)
Epidermolysis bullosa simplex due to plakophilin deficiency
McGrath syndrome
Ectodermal dysplasia skin fragility syndrome
A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering. Prevalence is unknown but 11 cases have been reported to date. Onset of the disease is usually at birth with skin blistering and generalized erythema which rapidly regresses. The disease is due to mutations in the PKP1 (1q32) gene encoding plakophilin-1. Transmission is autosomal recessive.
epidermolysis bullosa simplex door plakophilinedeficiëntie
Id716699004
StatusPrimitive
Associated morphologyEpidermolysis
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ81.0
RuleTRUE
AdviceALWAYS Q81.0
CorrelationSNOMED CT source code to target map code correlation not specified