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Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: Strategy to avoid KRT14 pseudogene amplification by a simple approach

      Mutations within keratin 14 (KRT14) result in an abnormal fragility of epithelial cells and are detected in epidermolysis bullosa simplex, a group of heritable skin blistering disorders [
      • Hamada T.
      • Kawano Y.
      • Szczecinska W.
      • Woźniak K.
      • Yasumoto S.
      • Kowalewski C.
      • et al.
      Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
      ,
      • Coulombe P.A.
      • Hutton M.E.
      • Letai A.
      • Hebert A.
      • Paller A.S.
      • Fuchs E.
      Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
      ]. We present a 14-year-old boy, who was referred to our Dermatology Department 8 years ago presenting disseminated hemorrhagic blisters in herpetiform arrangement localized on the thorax, extremities and face. The general blister formation started at birth and progressed during the neonatal period. Skin symptoms were very severe. No family members were affected. With time the symptoms improved. At the age of 13, the patient presented with palmoplantar hyperkeratosis and nail hypertrophy plus occasional blistering. The diagnosis of epidermolysis bullosa simplex Dowling-Meara (EBS, DM) was established on the basis of clinical symptoms and immunofluorescence mapping (IFM) study, in which the skin specimen is labeled with a series of antibodies to determine their binding sites and thus precisely the level of skin cleavage. IFM study on the patient's lesional skin using anti-beta 4 integrin and anti-collagen IV antibodies showed intraepidermal separation with both markers located on the blister floor.

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