The Japanese Journal of Dermatology
Online ISSN : 1346-8146
Print ISSN : 0021-499X
ISSN-L : 0021-499X
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Volume 128, Issue 8
Displaying 1-4 of 4 articles from this issue
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Seminar for Medical Education
Case Reports
  • Dystrophic Epidermolysis Bullosa (Pretibial and Pruriginosa): The Genotype-phenotype Correlation
    Saeko Sugimoto, Satoru Shinkuma, Jyunko Kono, Masami Ikeda, Hiroshi Sh ...
    2018 Volume 128 Issue 8 Pages 1657-1662
    Published: July 20, 2018
    Released on J-STAGE: July 20, 2018
    DOIhttps://doi.org/10.14924/dermatol.128.1657
    JOURNAL RESTRICTED ACCESS
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    We report two cases of dystrophic epidermolysis bullosa (pretibial) that presented nodules, erosions, and scars on the extensor surfaces of bilateral lower legs. Both patients presented the same clinical subtype (pretibial), but the results of a gene analysis were quite different. A direct sequencing analysis demonstrated a heterozygous c.6900+1G>A mutation in intron87 in Patient 1, and a homozygous c.8569G>T (E2857X) mutation in exon116 in Patient 2. These cases revealed that the same genotype does not necessarily specify the same phonotype in cases of dystrophic epidermolysis bullosa. Although the phenotypic diagnoses, i.e., pretibial and pruriginosa, are subjective, it is still valid to the base the diagnosis on the phenotype.

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