Research Achievements - Original paper -

Hyperpigmentation over the metacarpophalangeal joints and the malleoli in a case of hyaline fibromatosis syndrome with ANTXR2 mutations.

Sugiura K, Ohno A, Kono M, Kitoh H, Itomi K, Akiyama M.

J Eur Acad Dermatol Venereol.   30 ( 10 ) e44 - e46   2016.10  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Hyper-IgE syndrome with a novel mutation of the STAT3 gene.

Minakawa S, Tanaka H, Kaneko T, Matsuzaki Y, Kono M, Akiyama M, Minegishi Y, Sawamura D.

Clin Exp Dermatol.   41 ( 6 ) 687 - 689   2016.08  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Reticulate acropigmentation of Kitamura with a novel ADAM10 mutation: a case report.

Tsutsumi M, Kono M, Akiyama M, Katoh N, Nakai N

J Dermatol.   43 ( 8 ) 963 - 965   2016.08  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-O-sulfotransferase-1 deficiency: implications of dermatan sulfate depletion on early aging.

Kono M*, Hasegawa-Murakami Y, Sugiura K, Ono M, Toriyama K, Miyake N, Hatamochi A, Kamei Y,  Kosho T*, Akiyama M.

Acta Derm Venereol.   96 ( 6 ) 830 - 831   2016.08  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

IgE-independent pathophysiology of severe atopic dermatitis demonstrated in an IgE-deficient patient.

Ogawa Y, Kono M, Tsujikawa M, Tsujiuchi H, Akiyama M.

J Dermatol Sci.   82 ( 2 ) 139 - 141   2016.05  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Dyschromatosis symmetrica hereditaria and Aicardi-Goutières syndrome 6 are phenotypic variants caused by ADAR1 mutations.

Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Matsumoto K, Moriwaki S, Matsumoto N, Tomita Y, Sugiura K, Akiyama M.

J Invest Dermatol.   136 ( 4 ) 875 - 878   2016.04  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Unilateral generalized linear porokeratosis with nail dystrophy.

Kono M, Yokoyama N, Ogawa Y, Takama H, Sugiura K, Akiyama M.

J Dermatol.   43 ( 3 ) 286 - 287   2016.03  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations.

Okamura K, Araki Y, Abe Y, Shigyou A, Fujiyama T, Baba A, Kanekura T, Chinen Y, Kono M, Niizeki H, Tsubota A, Konno T, Hozumi Y, Suzuki T.

J Dermatol Sci.   81 ( 2 ) 140 - 142   2016.02  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Buruli ulcer successfully treated with negative-pressure wound therapy.

Murase C, Kono M, Nakanaga K, Ishii N, Akiyama M.

JAMA Dermatol.   151   1137 - 1139   2015.10  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Porokeratotic eccrine ostial and dermal duct nevus with a somatic homozygous or monoallelic variant of connexin 26.

Noda K, Sugiura K, Kono M, Akiyama M.

J Dermatol Sci.   80   74 - 76   2015.10  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Impetigo herpetiformis with IL36RN mutations in a Chinese patient: A founder haplotype of c.115+6T>C in East Asia.

Sugiura K, Nakasuka A, Kono H, Kono M, Akiyama M.

J Dermatol Sci.   79   319 - 320   2015.09  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Dowling-Degos disease with mutations in POFUT1 is clinico-pathologically distinct from reticulate acropigmentation of Kitamura.

Kono M, Suganuma M, Takama H, Zarzoso I, Saritha M, Bodet D, Aboobacker S, Kaliaperumal K, Suzuki T, Tomita Y, Sugiura K, Akiyama M.

Br J Dermatol.   173   584 - 586   2015.08  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Annular elastolytic giant cell granuloma successfully treated with minocycline hydrochloride.

Nanbu A, Sugiura K, Kono M, Muro Y, Akiyama M.

Acta Derm Venereol.   95   756 - 757   2015.06  [Refereed]

Research paper (journal)   Domestic Co-author

Lymphatic flow is mostly preserved after sentinel lymph node biopsy in primary cutaneous malignant melanoma.

Yokota K, Sawada M, Matsumoto T, Hasegawa Y, Kono M, Akiyama M.

J Dermatol Sci.   78   101 - 107   2015.05  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Large epidermal cleft formation in verrucous-keratotic malignant melanoma on the heel

Matsumoto T, Yokota K, Sawada S, Hasegawa Y, Takeuchi A, Kono M, Akiyama M.

J Am Acad Dermatol.   72   e37 - e38   2015.01  [Refereed]

Research paper (journal)   Domestic Co-author