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Observation
March 27, 2019

A Somatic p.Phe29del Mutation of Connexin 26 (GJB2) Manifesting as Acantholytic Dyskeratotic Epidermal Nevus

Author Affiliations
  • 1Cutaneous Biology Research Institute, Department of Dermatology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea
  • 2Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea
  • 3Department of Dermatology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
JAMA Dermatol. 2019;155(5):633-635. doi:10.1001/jamadermatol.2018.5852

Connexin 26 is a gap junction protein that oligomerizes in the cell to form hexameric transmembrane channels, which allow the intercellular communications.1 The known mutations of GJB2 result in syndromic skin diseases including palmoplantar keratoderma with deafness, Vohwinkel syndrome, and keratitis-ichthyosis-deafness syndrome.2,3 Herein, we report a case of a somatic p.Phe29del mutation of GJB2 with a novel clinical manifestation mimicking acantholytic dyskeratotic epidermal nevus (ADEN).

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