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Letter to the Editor

Bullous Dermolysis of the Newborn and Dystrophic Epidermolysis Bullosa Pruriginosa within the Same Family: Two Phenotypes Associated with a COL7A1 Mutation

doi: 10.2340/00015555-1154

Abstract:

Abstract is missing (Letter)

Authors:

Kana Murase , Hiroyuki Kanoh, Norito Ishii, Takashi Hashimoto, Hajime Nakano, Daisuke Sawamura, Mariko Seishima

References

  • Hashimoto K, Matsumoto M, Iacobelli D. Transient bullous dermolysis of the newborn. Arch Dermatol 1985; 121: 1429–1438.
  • Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol 2008; 58: 931–950.
  • Fine JD, Horiguchi Y, Stein DH, Esterly NB, Leigh IM. Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa. J Am Acad Dermatol 1990; 22: 188–195.
  • Tamai K, Murai T, Mayama M, Nomura K, Sawamura D, Hanada K, et al. Epidermolysis bullosa (EB) pruriginosa: electron microscopic study and specific mutations in the type VII collagen gene. J Dermatol 1998; 25: 488.
  • Lee JY, Pulkkinen L, Liu HS, Chen YF, Uitto J. A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. J Invest Dermatol 1997; 108: 947–949.
  • Oh SW, Lee JS, Kim MY, Kim SC. COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa. Br J Dermatol 2007; 157: 1260–1264.
  • Hashikawa K, Hamada T, Ishii N, Fukuda S, Kuroki R, Nakama T, et al. The compound heterozygote for new/recurrent COL7A1 mutations in a Japanese patient with bullous dermolysis of the newborn. J Dermatol Sci 2009; 56: 66–68.
  • McGrath JA, Schofield OM, Eady RA. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617–625.
  • Whittock NV, Ashton GH, Mohammedi R, Mellerio JE, Mathew CG, Abbs SJ, et al. Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis. J Invest Dermatol 1999; 113: 673–686.
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    Volume 91, Issue 6

    DOI: 10.2340/00015555-1154

    Pages: 730-731

    View at PubMed