Study on pathogenesis and heredity of mosaic genodermatoses
| Project/Area Number |
12670806
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Dermatology
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| Research Institution | Yamagata University |
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Principal Investigator |
MITSUHASHI Yoshihiko Department of Dermatology, Yamagata University School of Medicine, Associate Professor, 医学部, 助教授 (30157557)
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| Co-Investigator(Kenkyū-buntansha) |
KATAGIRI Yoshiyuki Department of Dermatology, Yamagata University School of Medicine, Assistant Professor, 医学部, 助手 (80292431)
KAWAGUCHI Masakazu Department of Dermatology, Yamagata University School of Medicine, Assistant Professor, 医学部, 助手 (10302291)
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| Project Period (FY) |
2000 – 2001
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| Project Status |
Completed (Fiscal Year 2001)
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| Budget Amount *help |
¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 2001: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 2000: ¥1,700,000 (Direct Cost: ¥1,700,000)
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| Keywords | mosaic / neurofibromatosis / segmental type / Becker's melanosis / mast cells / genodermatosis / ベーカー母斑 / 扁平母斑 / 神経線維腫1型 / 神経線維腫症 / トリプターゼ / キマーゼ / 粘膜型 / 結合組織型 |
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| Research Abstract |
A part of cases of type 5 segmental neurofibromatosis have been elucidated as a result of somatic mutations of neurofibromin genes. Becker's melanosis is a congenital dermatosis characterized by a localized pigment patch, which appears around puberty. The clinical features of Becker's melanosis are similar to those of type 5 neurofibromatosis. We hypothesized that Becker' s melanosis would represent a mosaic case of neurofibromatosis. We investigated patients with Becker' s melanosis and compared with type 5 segmental and type 1 neurofibromatosis by histopathological and immunohistopathological techniques. Results showed that in the lesions of Becker's melanosis neurofibromas were found and mast cell numbers were increased. These were also found in the lesions of type 5 segmental and type 1 neurofibromatosis. These results suggest that Becker's melanosis may be a mosaic case of neurofibromatosis. Further studies including gene analysis are requested for elucidation of this problem.
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Report
(3 results)
Research Products
(13 results)
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[Publications] Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafe JL, Paradisi, M, Kelsell DP, Ansai S, Mitsuhashi Y, Larregue M, Leigh IM, Harper JI, Taieb A, Prost Yd, Cardon LR, Hovnanian A.: "Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping"Am J Hum Genet. 66(3). 914-921 (2000)
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