A Family of Generalized Severe Junctional Epidermolysis Bullosa

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  • Hiraoka Mikiko
    Department of Dermatology, Japanese Red Cross Medical Center
  • Imakado Sumihisa
    Department of Dermatology, Japanese Red Cross Medical Center
  • Natsuga Ken
    Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University
  • Akiyama Masashi
    Department of Dermatology, Nagoya University Graduate School of Medicine
  • Sawamura Daisuke
    Department of Dermatology, Hirosaki University Graduate School of Medicine
  • Shimizu Hiroshi
    Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University

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Other Title
  • 重症汎発性接合部型表皮水疱症の1家系
  • 症例報告 重症汎発性接合部型表皮水疱症の1家系
  • ショウレイ ホウコク ジュウショウ ハンハツセイ セツゴウブガタ ヒョウヒ スイホウショウ ノ 1 カケイ

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<p>The parents are both Asian Indian and consanguineous. Their first child was healthy. Their second and fourth children developed blisters and erosions around their body when they were three-days-old and one-day-old, respectively. Pathological examination showed subepidermal bullae, and immunohistochemical staining revealed deficiency of laminin332, which led to the diagnosis of generalized severe junctional epidermolysis bullosa (formerly named Herlitz type). Despite the topical therapy, general medication, and antibiotics, they both died of dyspnea at the age of fifteen-months and thirteen-months, respectively. Genetic analysis revealed homozygosis of the p.Arg569* mutation for both children. This mutation has been reported from the USA, India, and the UK so far. In Japan, 15 cases of generalized severe junctional epidermolysis bullosa have been reported, but none of them had this mutation.</p>

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