Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

Thursday, 11 August, 2016
  • Hsu CK,
  • Dr Lu Liu,
  • Can PK,
  • Kocatürk E,
  • Güngör Ş,
  • Hürdoğan Ö,
  • Surgan A,
  • Degirmentepe EN,
  • Lee JY,
  • Simpson MA,
  • McGrath JA


Ectodermal dysplasia–skin fragility (EDSF) syndrome (MIM604536) is an autosomal recessive disorder associated with loss-of-function mutations in PKP1, encoding the desmosomal protein plakophilin-1 [1]. Clinically, EDSF syndrome is characterized by skin fragility with generalized superficial erosions, patches of scale crust on the trunk and limbs, perioral cracking and inflammation, hypotrichosis, palmoplantar keratoderma with painful fissuring, and other more variable ectodermal anomalies [2,3].

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2016 Aug 11. pii: S0923-1811(16)30190-6. doi: 10.1016/j.jdermsci.2016.08.011. [Epub ahead of print]

PMID: 27554337