Affiliation |
Graduate School of Medicine Doctorial Course in Medicine Organ Function-Oriented Medicine Department of Dermatology and Plastic Surgery |
KONO Michihiro
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Research Interests 【 display / non-display 】
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dermatology
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genodermatosis
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pigmentary disorder
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dyschromatosis
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mosaicism
Graduating School 【 display / non-display 】
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-1994.03
Akita University Faculty of Medicine Graduated
Graduate School 【 display / non-display 】
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-1999.03
Akita University Graduate School, Division of Medicine Doctor's Course Completed
Campus Career 【 display / non-display 】
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2019.09-Now
Akita University Graduate School of Medicine Doctorial Course in Medicine Organ Function-Oriented Medicine Professor
Research Achievements 【 display / non-display 】
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Tada Y.
Journal of Dermatology ( Journal of Dermatology ) 50 ( 11 ) 1415 - 1426 2023.11 [Refereed]
Research paper (journal) Domestic Co-author
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Sato T.
Journal of Dermatological Science ( Journal of Dermatological Science ) 112 ( 1 ) 6 - 14 2023.10 [Refereed]
Research paper (journal) Domestic Co-author
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Kumagai F.
Journal of Dermatological Science ( Journal of Dermatological Science ) 109 ( 2 ) 99 - 101 2023.02 [Refereed]
Research paper (journal) Domestic Co-author
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Enzan N.
Journal of the American Academy of Dermatology ( Journal of the American Academy of Dermatology ) 88 ( 1 ) e47 - e48 2023.01 [Refereed]
Research paper (journal) Domestic Co-author
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Nakane Y.
Journal of Dermatology ( Journal of Dermatology ) 51 ( 2 ) e49 - e50 2023 [Refereed]
Research paper (journal) Domestic Co-author
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A Family of Familial Pityriasis Rubra Pilaris
Tahara Jumpei, Tanabe Hiroshi, Kanameishi Shuto, Sakurai Kenji, Ogawa Marie, Goto Kazuya, Fukumoto Takaya, Ohno Sayoko, Kono Michihiro, Akiyama Masashi
The Japanese Journal of Dermatology ( Japanese Dermatological Association ) 130 ( 11 ) 2379 - 2383 2020
<p>Familial pityriasis rubra pilaris (PRP) is caused by gain-of-function mutations in <i>CARD14</i>. We report familial cases of a 28-year old mother and a 11-month old daughter with well-demarcated salmon-coloured plaques accompanied by scales. The mother is tolerant with emollients and moisturizers, and her daughter's symptoms improved with topical vitamin D<sub>3</sub>, steroid, and oral vitamin A. After genetic counselling, genetic analysis revealed a heterozygous missense mutation in <i>CARD14</i>, c.467T>C (p.Leu156Pro) in the mother and the daughter, but not in the father. We diagnosed them with familial cases of PRP type V. This variant has been reported from a Israeli group. In Japan, 4 cases of PRP identified with a <i>CARD14</i> mutation have been reported, but none of them had this variant.</p>