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).
Lee YI, Kim T, Lee S, Lee S, Lee M. A Somatic p.Phe29del Mutation of Connexin 26 (GJB2) Manifesting as Acantholytic Dyskeratotic Epidermal Nevus. JAMA Dermatol. Published online March 27, 2019155(5):633–635. doi:10.1001/jamadermatol.2018.5852
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