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ectodermal dysplasia/skin fragility syndrome (McGrath syndrome)

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

General

ectodermal dysplasia

Database Correlations

OMIM 604536

References

  1. UniProt :accession Q13835
  2. OMIM :accession 604536