The Japanese Journal of Dermatology
Online ISSN : 1346-8146
Print ISSN : 0021-499X
ISSN-L : 0021-499X
Volume 127 , Issue 4
Showing 1-8 articles out of 8 articles from the selected issue
Obituary
Seminar for Medical Education
Original Articles
  • Keiko Sakamoto, Kyoko Kudo, Norito Ishii, Hajime Nakano, Masutaka Furu ...
    2017 Volume 127 Issue 4 Pages 607-614
    Published: April 20, 2017
    Released: April 20, 2017
    JOURNALS RESTRICTED ACCESS

    A newborn male baby presented multiple erosions and ulcers on his legs, fingers, and head and loss of the nails on the first and second toes. New blisters and erosions continued to appear after minimal trauma; these erosive lesions tended to be epithelialized with scar and milium formation. The oral mucosa was also affected by mild blisters and erosions.

    Histological findings revealed a subepidermal blister without apparent inflammatory cell infiltration. Immunofluorescence study showed no appreciable lack of basement membrane proteins including BP180, BP230, α6 integrin, β4 integrin, plectin, laminin 332, and type VII collagen. The electron microscopic structure of the hemidesmosomes was normal, but the number of mature anchoring fibrils was decreased. Direct sequencing analysis eventually demonstrated heterozygous mutations in the COL7A1 gene [553C→T transition (p.R185X) in exon 5 and 8569G→T transition (p.E2857X) in exon 116], leading to a diagnosis of autosomally recessive dystrophic epidermolysis bullosa. The former mutation was inherited from the patient's father and the latter from his mother.

    Because the E2857X mutation is located downstream of the site of cleavage of mature type VII collagen during the dimerization process, substantial amounts of type VII collagen are likely to be produced in the skin of patients with this particular mutation. This may explain why a normal level of type VII collagen was detected by immunofluorescence study.

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Case Reports
  • Hiroyuki Takahashi, Daisuke Yoneta, Kenji Yanagisawa, Makiko Kagaya, H ...
    2017 Volume 127 Issue 4 Pages 615-620
    Published: April 20, 2017
    Released: April 20, 2017
    JOURNALS RESTRICTED ACCESS

    We reported a case of chronic active Epstein-Barr virus infection (CAEBV) initially complicated by refractory facial edema. A 31-year old female noticed a facial swelling occurred nearly three months prior to visiting our clinic. When she visited us, her face, including both eyelids, was swollen and her lower legs showed an erythematous eruption without significant pruritus. Neither histological examination nor blood tests produced diagnostic findings. After close examinations by several departments in our hospital, a high fever followed by the onset of hemophagocytic syndrome (HPS) led us to consider the virus-related disorders, including CAEBV. Both an in-situ hybridization using skin biopsy tissues and a southern blotting assay of blood samples led us to diagnose CAEBV followed by HPS. After a few courses of chemotherapy, she moved to the university hospital to undergo bone marrow transplantation, but she died of intracranial hemorrhage due to a recurrence of HPS.

    It is, therefore, suggested that a refractory facial edema could be an important initial symptom of CAEBV in adult patients and an in-situ hybridization method using skin biopsy specimens could provide a diagnostic clue for the virus-related disorders, especially for the diagnosis of life-threatening diseases such as CAEBV.

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  • Hiroko Nagahata, Mari Kishibe, Hiroyoshi Nozaki, Satomi Igawa, Kyoko K ...
    2017 Volume 127 Issue 4 Pages 621-627
    Published: April 20, 2017
    Released: April 20, 2017
    JOURNALS RESTRICTED ACCESS

    A 56-year-old woman presented with violaceous erythema on her bilateral eyelids and mechanic's hands without myogenic change. The patient was diagnosed with amyopathic dermatomyositis (ADM) with highly positive anti-MDA5 antibody. Although anti-MDA5 antibody positive DM is often accompanied by rapidly progressive interstitial lung disease, the patient had no pulmonary abnormalities. We first treated her with oral prednisolone (PSL) alone at 1 mg/kg/day, because severe adverse effect of a combination immunosuppressive therapy were a concern. However, even after the initiation of PSL treatment, serum biomarkers, such as ferritin, KL-6, and anti-MDA5 antibody, increased progressively. Moreover, pulmonary ground-glass opacities were detected on a CT examination. Therefore, we switched the treatment to a combination with PSL, tacrolimus, intravenous cyclophosphamide, and intravenous immunoglobulin. The combination therapy ameliorated her skin symptoms without worsening of the pulmonary lesions. We conclude that a combination immunosuppressive therapy should be recommended for anti-MDA5 antibody highly positive DM patients.

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