ectodermal dysplasia-skin fragility syndrome

(redirected from McGrath syndrome)

ectodermal dysplasia-skin fragility syndrome

A form (OMIM:604536) of ectodermal dysplasia characterised by skin fragility, small and poorly formed keratinocyte desmosomes, widened intercellular spaces and defective desmosome/keratin intermediate filament interactions.

Molecular pathology
EDSFS is caused by defects in PKP1, which encodes plakophilin 1.
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