ectodermal dysplasia/skin fragility syndrome (McGrath syndrome)
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Pathology
- desmosomes in the skin are small & poorly formed with widening of keratinocyte intercellular spaces & perturbed desmosome/keratin intermediate filament interactions
- no evidence of significant abnormalities in other epithelia or tissues
Genetics
- associated with defects in PKP1
Clinical manifestations
- features of both cutaneous fragility & congenital ectodermal dysplasia affecting skin, hair & nails