Masashi Akiyama

Dyshidrosiform pemphigoid restricted to the soles.

• Authors:
• Tomoyuki Hioki,
• Akitaka Shibata,
• Sumiko Makita,
• Masashi Akiyama

• June 2018

Late-Onset Fulminant Myocarditis With Immune Checkpoint Inhibitor Nivolumab.

• Authors:
• Shogo Yamaguchi,
• Ryota Morimoto,
• Takahiro Okumura,
• Yuta Yamashita,
• Tomoaki Haga,
• Tasuku Kuwayama,
• Tsuyoshi Yokoi,
• Hiroaki Hiraiwa,
• Toru Kondo,
• Yuki Sugiura,
• Naoki Watanabe,
• Naoaki Kano,
• Kei Kohno,
• Kenji Fukaya,
• Akinori Sawamura,
• Kenji Yokota,
• Hideki Ishii,
• Masato Nakaguro,
• Masashi Akiyama,
• Toyoaki Murohara

• June 2018

Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin.

• Authors:
• Masashi Akiyama,
• Takuya Takeichi,
• John A McGrath,
• Kazumitsu Sugiura

• May 2018

An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency.

• Authors:
• Risako Oi,
• Takuya Takeichi,
• Yusuke Okuno,
• Daiei Kojima,
• Kyoko Sugawara,
• Michihiro Kono,
• Hideki Muramatsu,
• Masashi Akiyama

• May 2018

Reply.

• Authors:
• Masashi Akiyama

• May 2018

Hearing impairment: A secondary symptom in a congenital ichthyosiform erythroderma patient with ABCA12 mutations.

• Authors:
• Chiaki Murase,
• Takuya Takeichi,
• Kazumitsu Sugiura,
• Miki Kobayashi,
• Kozue Shiomi,
• Kaichiro Ikebuchi,
• Yutaka Tsutsumi,
• Masashi Akiyama

• May 2018

Strong correlation between cancer progression and anti-transcription intermediary factor 1γ antibodies in dermatomyositis patients.

• Authors:
• Mariko Ogawa-Momohara,
• Yoshinao Muro,
• Teruyuki Mitsuma,
• Masao Katayama,
• Koichi Yanaba,
• Mizuho Nara,
• Masao Kakeda,
• Michihiro Kono,
• Masashi Akiyama

• May 2018

CD1a-positive cutaneous mastocytosis: Electron microscopic evidence of pleomorphic mast cell proliferation.

• Authors:
• Takahiro KIyohara,
• Naoko Nagano,
• Sayaka Terai,
• Sei Nakamaru,
• Kaoru Makimura,
• Hiroyuki Takama,
• Masashi Akiyama,
• Hirotsugu Tanimura

• April 2018

Sunlight is merely a temporary modifier of dyschromatosis symmetrica hereditaria.

• Authors:
• Michihiro Kono,
• Yoshinori Miyamura,
• Yasushi Tomita,
• Masashi Akiyama

• April 2018

Hand, Foot, and Mouth Disease in an Adult.

• Authors:
• Chiaki Murase,
• Masashi Akiyama

• April 2018

Von Willebrand Factor Aggravates Hepatic Ischemia-Reperfusion Injury by Promoting Neutrophil Recruitment in Mice.

• Authors:
• Yasuyuki Urisono,
• Asuka Sakata,
• Hideto Matsui,
• Shogo Kasuda,
• Shiro Ono,
• Kiyomi Yoshimoto,
• Kenji Nishio,
• Masayuki Sho,
• Masashi Akiyama,
• Toshiyuki Miyata,
• Kazuo Okuchi,
• Satoshi Nishimura,
• Mitsuhiko Sugimoto

• April 2018

Deficiency of the interleukin-36 receptor antagonist dramatically improved by secukinumab.

• Authors:
• Manao Kinoshita,
• Takashi Okamoto,
• Shinya Sano,
• Hiroshi Mitsui,
• Takuya Takeichi,
• Kazumitsu Sugiura,
• Masashi Akiyama,
• Shinji Shimada,
• Tatsuyoshi Kawamura

• April 2018

Dermoscopic features of endocrine mucin-producing sweat gland carcinoma.

• Authors:
• Yoshie Hasegawa-Murakami,
• Michihiro Kono,
• Kenji Yokota,
• Hiroko Inaba,
• Takaya Fukumoto,
• Masashi Akiyama

• March 2018

Highly variable clinical feature and course of aggressive digital papillary adenocarcinoma.

• Authors:
• Kenji Yokota,
• Michihiro Kono,
• Kazue Shimizu,
• Akihiro Sakakibara,
• Masashi Akiyama

• March 2018

Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.

• Authors:
• Toshifumi Nomura,
• Shotaro Suzuki,
• Toshinari Miyauchi,
• Masae Takeda,
• Satoru Shinkuma,
• Yasuyuki Fujita,
• Wataru Nishie,
• Masashi Akiyama,
• Hiroshi Shimizu

• March 2018

Case of mild X-linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia.

• Authors:
• Yuki Maki,
• Takuya Takeichi,
• Michihiro Kono,
• Yoshihito Tanaka,
• Masashi Akiyama

• March 2018

Patients With Antithyroid Antibodies Are Prone To Develop Destructive Thyroiditis by Nivolumab: A Prospective Study.

• Authors:
• Tomoko Kobayashi,
• Shintaro Iwama,
• Yoshinori Yasuda,
• Norio Okada,
• Taku Tsunekawa,
• Takeshi Onoue,
• Hiroshi Takagi,
• Daisuke Hagiwara,
• Yoshihiro Ito,
• Yoshiaki Morishita,
• Motomitsu Goto,
• Hidetaka Suga,
• Ryoichi Banno,
• Kenji Yokota,
• Tetsunari Hase,
• Masahiro Morise,
• Naozumi Hashimoto,
• Masahiko Ando,
• Hitoshi Kiyoi,
• Momokazu Gotoh,
• Yuichi Ando,
• Masashi Akiyama,
• Yoshinori Hasegawa,
• Hiroshi Arima

• March 2018

Multiple keratotic papules and plaques on the trunk in Cowden's disease with MALT lymphoma.

• Authors:
• Sayaka Mizuno,
• Takuya Takeichi,
• Junichi Sato,
• Masanao Nakamura,
• Hidemi Goto,
• Kazumitsu Sugiura,
• Masashi Akiyama

• February 2018

Superficial epidermolytic ichthyosis concomitant with atopic dermatitis.

• Authors:
• Hiromitsu Shimada,
• Naoko Takeo,
• Tomoko Saito-Shono,
• Kazushi Ishikawa,
• Takashi Sakai,
• Mizuki Goto,
• Yutaka Hatano,
• Sakuhei Fujiwara,
• Mitsuhiro Matsuda,
• Takahiro Hamada,
• Takekuni Nakama,
• Takashi Hashimoto,
• Michihiro Kono,
• Masashi Akiyama,
• Yasuo Kitajima

• February 2018

Intramuscular haemorrhage in a patient with dermatomyositis and anti-TIF1γ antibodies.

• Authors:
• Runa Adachi,
• Yoshinao Muro,
• Michihiro Kono,
• Masashi Akiyama

• February 2018

Cytomegalovirus reactivation accompanied by varicella zoster virus reactivation or reinfection in an adult patient of multiple myeloma during bortezomib therapy.

• Authors:
• Tomoyuki Hioki,
• Hiroyuki Takama,
• Sumiko Makita,
• Kazuko Watanabe,
• Daisuke Watanabe,
• Masashi Akiyama

• January 2018

Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation.

• Authors:
• Takuya Hanamura,
• Takuya Takeichi,
• Yusuke Okuno,
• Daisuke Ichikawa,
• Michihiro Kono,
• Masashi Akiyama

• January 2018

Autoinflammatory keratinization diseases.

• Authors:
• Masashi Akiyama,
• Takuya Takeichi,
• John A McGrath,
• Kazumitsu Sugiura

• December 2017

Clinicopathological analysis of 46 cases with CD4 and/or CD56 immature haematolymphoid malignancy: reappraisal of blastic plasmacytoid dendritic cell and related neoplasms.

• Authors:
• Yuka Suzuki,
• Seiichi Kato,
• Kei Kohno,
• Akira Satou,
• Ahmed E Eladl,
• Naoko Asano,
• Michihiro Kono,
• Yuichi Kato,
• Masafumi Taniwaki,
• Masashi Akiyama,
• Shigeo Nakamura

• December 2017

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.

• Authors:
• Takuya Takeichi,
• Antonio Torrelo,
• John Y W Lee,
• Yusuke Ohno,
• María Luisa Lozano,
• Akio Kihara,
• Lu Liu,
• Yuka Yasuda,
• Junko Ishikawa,
• Takatoshi Murase,
• Ana Belén Rodrigo,
• Pablo Fernández-Crehuet,
• Yoichiro Toi,
• Jemima Mellerio,
• José Rivera,
• Vicente Vicente,
• David P Kelsell,
• Yutaka Nishimura,
• Yusuke Okuno,
• Daiei Kojima,
• Yasushi Ogawa,
• Kazumitsu Sugiura,
• Michael A Simpson,
• W H Irwin McLean,
• Masashi Akiyama,
• John A McGrath

• November 2017

Phosphorylated signal transducer and activator of transcription 3 in the epidermis in adult-onset Still's disease.

• Authors:
• Takuya Takeichi,
• Naoki Watanabe,
• Yoshinao Muro,
• Shiho Teshigawara,
• Motoki Sato,
• Nobutaro Ban,
• Masashi Akiyama

• October 2017

A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation.

• Authors:
• Takuya Takeichi,
• Katsuhiko Tsukamoto,
• Yusuke Okuno,
• Daiei Kojima,
• Michihiro Kono,
• Yasushi Suga,
• Masashi Akiyama

• October 2017

Abscopal Effect of Local Irradiation Treatment for Diffuse Large B-cell Lymphoma.

• Authors:
• Yuri Hidaka,
• Takuya Takeichi,
• Yuichi Ishikawa,
• Mariko Kawamura,
• Masashi Akiyama

• October 2017

Corneocyte lipid envelope (CLE), the key structure for skin barrier function and ichthyosis pathogenesis.

• Authors:
• Masashi Akiyama

• October 2017

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.

• Authors:
• Yasushi Ogawa,
• Michihiro Kono,
• Masashi Akiyama

• September 2017

A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline.

• Authors:
• Michihiro Kono,
• Yasushi Suga,
• Tomohiro Akashi,
• Yasutomo Ito,
• Takuya Takeichi,
• Yoshinao Muro,
• Masashi Akiyama

• September 2017

Prevalence of anti-NT5C1A antibodies in Japanese patients with autoimmune rheumatic diseases in comparison with other patient cohorts.

• Authors:
• Yoshinao Muro,
• Hirotaka Nakanishi,
• Masahisa Katsuno,
• Michihiro Kono,
• Masashi Akiyama

• September 2017

Autoantibodies to Su/Argonaute 2 in Japanese patients with inflammatory myopathy.

• Authors:
• Mariko Ogawa-Momohara,
• Yoshinao Muro,
• Minoru Satoh,
• Masashi Akiyama

• August 2017

Certolizumab pegol, a pegylated anti-TNF-α antagonist, caused de novo-onset palmoplantar pustulosis followed by generalized pustular psoriasis in a patient with rheumatoid arthritis.

• Authors:
• Haruka Koizumi,
• Atsushi Tokuriki,
• Noritaka Oyama,
• Hideki Ido,
• Kazumitsu Sugiura,
• Masashi Akiyama,
• Minoru Hasegawa

• June 2017

Toll-like receptor 4 antagonist TAK-242 inhibits autoinflammatory symptoms in DITRA.

• Authors:
• Akitaka Shibata,
• Kazumitsu Sugiura,
• Yasuhide Furuta,
• Yoshiko Mukumoto,
• Osamu Kaminuma,
• Masashi Akiyama

• June 2017

Anti-dense Fine Speckled 70 Autoantibodies in Japanese Children with Dermatomyositis, Localized Scleroderma, and Idiopathic Arthritis with Iridocyclitis.

• Authors:
• Yoshinao Muro,
• Naomi Iwata,
• Yoshihito Tanaka,
• Masanari Kodera,
• Michihiro Kono,
• Masashi Akiyama

• May 2017

Morphological analyses in fragility of pili torti with Björnstad syndrome.

• Authors:
• Yuki Marubashi,
• Takeshi Yanagishita,
• Jun Muto,
• Nobuhiko Taguchi,
• Kazumitsu Sugiura,
• Yoshiyuki Kawamoto,
• Masashi Akiyama,
• Daisuke Watanabe

• April 2017

Pectoral nerve blocks are useful for axillary sentinel lymph node biopsy in malignant tumors on the upper extremities.

• Authors:
• Kenji Yokota,
• Takaaki Matsumoto,
• Yoshie Murakami,
• Masashi Akiyama

• March 2017

PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.

• Authors:
• Tetsuya Hirabayashi,
• Tatsuki Anjo,
• Arisa Kaneko,
• Yuuya Senoo,
• Akitaka Shibata,
• Hiroyuki Takama,
• Kohei Yokoyama,
• Yasumasa Nishito,
• Tomio Ono,
• Choji Taya,
• Kazuaki Muramatsu,
• Kiyoko Fukami,
• Agustí Muñoz-Garcia,
• Alan R Brash,
• Kazutaka Ikeda,
• Makoto Arita,
• Masashi Akiyama,
• Makoto Murakami

• March 2017

Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia.

• Authors:
• Takuji Masunaga,
• Junki Ogawa,
• Masashi Akiyama,
• Takeji Nishikawa,
• Hiroshi Shimizu,
• Akira Ishiko

• February 2017

Ultrasound-guided peripheral nerve blocks are useful for resections of malignant skin tumours on the leg.

• Authors:
• Kenji Yokota,
• Takaaki Matsumoto,
• Yoshie Murakami,
• Kaori Ando,
• Masashi Akiyama

• February 2017

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

• Authors:
• John Y W Lee,
• Chao-Kai Hsu,
• Magdalene Michael,
• Arti Nanda,
• Lu Liu,
• James R McMillan,
• Celine Pourreyron,
• Takuya Takeichi,
• Jakub Tolar,
• Evan Reid,
• Thomas Hayday,
• Sergiu C Blumen,
• Saif Abu-Mouch,
• Rachel Straussberg,
• Lina Basel-Vanagaite,
• Yael Barhum,
• Yasmin Zouabi,
• Hejab Al-Ajmi,
• Hsin-Yu Huang,
• Ting-Chien Lin,
• Masashi Akiyama,
• Julia Y Y Lee,
• W H Irwin McLean,
• Michael A Simpson,
• Maddy Parsons,
• John A McGrath

• February 2017

Anticentromere antibody-positive primary Sjögren's syndrome: Epitope analysis of a subset of anticentromere antibody-positive patients.

• Authors:
• Noriyo Tanaka,
• Yoshinao Muro,
• Yasunori Suzuki,
• Susumu Nishiyama,
• Kunio Takada,
• Masahiro Sekiguchi,
• Naoaki Hashimoto,
• Koichiro Ohmura,
• Kumiko Shimoyama,
• Ichiro Saito,
• Mitsuhiro Kawano,
• Masashi Akiyama

• January 2017

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.

• Authors:
• Takuya Takeichi,
• Kazumitsu Sugiura,
• Toshifumi Nomura,
• Taiko Sakamoto,
• Yasushi Ogawa,
• Naoki Oiso,
• Yuko Futei,
• Aki Fujisaki,
• Akiko Koizumi,
• Yumi Aoyama,
• Kimiko Nakajima,
• Yutaka Hatano,
• Kei Hayashi,
• Akemi Ishida-Yamamoto,
• Sakuhei Fujiwara,
• Shigetoshi Sano,
• Keiji Iwatsuki,
• Akira Kawada,
• Yasushi Suga,
• Hiroshi Shimizu,
• John A McGrath,
• Masashi Akiyama

• January 2017

A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis.

• Authors:
• Takuya Takeichi,
• Yaei Togawa,
• Yusuke Okuno,
• Rieko Taniguchi,
• Michihiro Kono,
• Hiroyuki Matsue,
• Kazumitsu Sugiura,
• Masashi Akiyama

• January 2017

Annular pustular psoriasis with a heterozygous IL36RN mutation.

• Authors:
• Tomoko Miyake,
• Hiroshi Umemura,
• Hiroko Doi,
• Junko Kousogabe,
• Kazuhide Tsuji,
• Toshihisa Hamada,
• Kazumitsu Sugiura,
• Yumi Aoyama,
• Masashi Akiyama,
• Keiji Iwatsuki

• December 2016

Cutaneous Manifestations in Dermatomyositis: Key Clinical and Serological Features-a Comprehensive Review.

• Authors:
• Yoshinao Muro,
• Kazumitsu Sugiura,
• Masashi Akiyama

• December 2016

Three-dimensional modeling and printing facilitate preoperative simulation and planning in skin surgery.

• Authors:
• Kenji Yokota,
• Takaaki Matsumoto,
• Yoshie Murakami,
• Kaori Ando,
• Masashi Akiyama

• December 2016

A patient with Parkinson's disease and dermatomyositis with serum anti-transcriptional intermediary factor 1-γ antibody.

• Authors:
• Chiaki Murase,
• Yoshinao Muro,
• Hirotaka Nakanishi,
• Masahisa Katsuno,
• Masashi Akiyama

• December 2016

Novel and recurrent mutations in Japanese patients with Darier's disease.

• Authors:
• Kana Noda,
• Takuya Takeichi,
• Yusuke Okuno,
• Hiromichi Takama,
• Shunsuke Miura,
• Shinji Kagami,
• Haruko Hino,
• Yuki Nakamura,
• Yumi Fujio,
• Izumi Konohana,
• Ayako Otani,
• Hideki Mukai,
• Kazumitsu Sugiura,
• Masashi Akiyama

• December 2016

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.

• Authors:
• Franklin L Zhong,
• Ons Mamaï,
• Lorenzo Sborgi,
• Lobna Boussofara,
• Richard Hopkins,
• Kim Robinson,
• Ildikó Szeverényi,
• Takuya Takeichi,
• Reshmaa Balaji,
• Aristotle Lau,
• Hazel Tye,
• Keya Roy,
• Carine Bonnard,
• Patricia J Ahl,
• Leigh Ann Jones,
• Paul J Baker,
• Lukas Lacina,
• Atsushi Otsuka,
• Pierre R Fournie,
• François Malecaze,
• E Birgitte Lane,
• Masashi Akiyama,
• Kenji Kabashima,
• John E Connolly,
• Seth L Masters,
• Vincent J Soler,
• Salma Samir Omar,
• John A McGrath,
• Roxana Nedelcu,
• Moez Gribaa,
• Mohamed Denguezli,
• Ali Saad,
• Sebastian Hiller,
• Bruno Reversade

• September 2016

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

• Authors:
• Miho Tsutsumi,
• Michihiro Kono,
• Masashi Akiyama,
• Norito Katoh,
• Noriaki Nakai

• August 2016

HMGCR antibody-associated myopathy as a paraneoplastic manifestation of esophageal carcinoma.

• Authors:
• Koyo Tsujikawa,
• Kazuhiro Hara,
• Yoshinao Muro,
• Hirotaka Nakanishi,
• Yukiko Niwa,
• Masahiko Koike,
• Seiya Noda,
• Yuichi Riku,
• Kentaro Sahashi,
• Naoki Atsuta,
• Mizuki Ito,
• Yoshie Shimoyama,
• Masashi Akiyama,
• Masahisa Katsuno

• August 2016

Non-infectious Panniculitis during Hydroxyurea Therapy in a Patient with Myeloproliferative Disease.

• Authors:
• Yasushi Ogawa,
• Masashi Akiyama

• May 2016

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

• Authors:
• Takuya Takeichi,
• Kazumitsu Sugiura,
• Chao-Kai Hsu,
• Toshifumi Nomura,
• Hiroyuki Takama,
• Michael A Simpson,
• Hiroshi Shimizu,
• John A McGrath,
• Masashi Akiyama

• May 2016

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

• Authors:
• Yasushi Ogawa,
• Michihiro Kono,
• Mina Tsujikawa,
• Hiromi Tsujiuchi,
• Masashi Akiyama

• May 2016

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.

• Authors:
• Michihiro Kono,
• Fumihiro Matsumoto,
• Yasuhiro Suzuki,
• Mutsumi Suganuma,
• Hirotomo Saitsu,
• Yasutomo Ito,
• Sakuhei Fujiwara,
• Shinichi Moriwaki,
• Kazuhiko Matsumoto,
• Naomichi Matsumoto,
• Yasushi Tomita,
• Kazumitsu Sugiura,
• Masashi Akiyama

• April 2016

Unilateral generalized linear porokeratosis with nail dystrophy.

• Authors:
• Michihiro Kono,
• Nozomi Yokoyama,
• Yasushi Ogawa,
• Hiromichi Takama,
• Kazumitsu Sugiura,
• Masashi Akiyama

• March 2016

Inherited ichthyosis: Non-syndromic forms.

• Authors:
• Takuya Takeichi,
• Masashi Akiyama

• March 2016

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.

• Authors:
• Takuya Takeichi,
• Kazumitsu Sugiura,
• Simon Tso,
• Michael A Simpson,
• John A McGrath,
• Masashi Akiyama

• February 2016

Nivolumab for the treatment of malignant melanoma in a patient with pre-existing myasthenia gravis.

• Authors:
• Osamu Maeda,
• Kenji Yokota,
• Naoki Atsuta,
• Masahisa Katsuno,
• Masashi Akiyama,
• Yuichi Ando

• February 2016

Elderly-Onset Generalized Pustular Psoriasis without a Previous History of Psoriasis Vulgaris.

• Authors:
• Takayuki Aizu,
• Akinobu Matsui,
• Noriko Takiyoshi,
• Eijiro Akasaka,
• Takahide Kaneko,
• Hajime Nakano,
• Kazumitsu Sugiura,
• Masashi Akiyama,
• Daisuke Sawamura

• December 2015

Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall.

• Authors:
• Akitaka Shibata,
• Kazumitsu Sugiura,
• Atsushi Suzuki,
• Takashi Ichiki,
• Masashi Akiyama

• December 2015

Striate palmoplantar keratoderma: Report of a novel DSG1 mutation and atypical clinical manifestations.

• Authors:
• Toshifumi Nomura,
• Osamu Mizuno,
• Toshinari Miyauchi,
• Shotaro Suzuki,
• Satoru Shinkuma,
• Hiroo Hata,
• Yasuyuki Fujita,
• Masashi Akiyama,
• Hiroshi Shimizu

• December 2015

Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.

• Authors:
• Abdul Wali,
• Lu Liu,
• Takuya Takeichi,
• Musharraf Jelani,
• Obaid Ur Rahman,
• Yee Kiat Heng,
• Steven Thng,
• Joyce Lee,
• Masashi Akiyama,
• John A McGrath,
• Regina C Betz

• November 2015

Buruli Ulcer Successfully Treated With Negative-Pressure Wound Therapy.

• Authors:
• Chiaki Murase,
• Michihiro Kono,
• Kazue Nakanaga,
• Norihisa Ishii,
• Masashi Akiyama

• October 2015

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

• Authors:
• Kana Noda,
• Kazumitsu Sugiura,
• Michihiro Kono,
• Masashi Akiyama

• October 2015

What are the "true" pathogenic anti-desmoglein antibodies?

• Authors:
• Yoshinao Muro,
• Kazumitsu Sugiura,
• Masashi Akiyama

• September 2015

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

• Authors:
• Kazumitsu Sugiura,
• Ayaka Nakasuka,
• Hiroaki Kono,
• Michihiro Kono,
• Masashi Akiyama

• September 2015

High incidence of cancer in anti-small ubiquitin-like modifier activating enzyme antibody-positive dermatomyositis.

• Authors:
• Yoshinao Muro,
• Kazumitsu Sugiura,
• Mizuho Nara,
• Izumi Sakamoto,
• Noriyuki Suzuki,
• Masashi Akiyama

• September 2015

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.

• Authors:
• Takuya Takeichi,
• Kazumitsu Sugiura,
• Chao-Kai Hsu,
• Kana Tanahashi,
• Hiroyuki Takama,
• Michael A Simpson,
• John A McGrath,
• Masashi Akiyama

• September 2015

Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.

• Authors:
• Akitaka Shibata,
• Masashi Akiyama

• August 2015

Annular Elastolytic Giant Cell Granuloma Successfully Treated with Minocycline Hydrochloride.

• Authors:
• Ai Nanbu,
• Kazumitsu Sugiura,
• Michihiro Kono,
• Yoshinao Muro,
• Masashi Akiyama

• July 2015

Influence of ADAMTS13 deficiency on venous thrombosis in mice.

• Authors:
• Yuko Tashima,
• Fumiaki Banno,
• Masashi Akiyama,
• Toshiyuki Miyata

• July 2015

Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.

• Authors:
• Kazumitsu Sugiura,
• Masashi Akiyama

• July 2015

Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation.

• Authors:
• Yusuke Ohno,
• Shota Nakamichi,
• Aya Ohkuni,
• Nozomi Kamiyama,
• Ayano Naoe,
• Hisashi Tsujimura,
• Urara Yokose,
• Kazumitsu Sugiura,
• Junko Ishikawa,
• Masashi Akiyama,
• Akio Kihara

• June 2015

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

• Authors:
• Kenji Yokota,
• Masaki Sawada,
• Takaaki Matsumoto,
• Yoshie Hasegawa,
• Michihiro Kono,
• Masashi Akiyama

• May 2015

DNA mismatch repair enzymes: genetic defects and autoimmunity.

• Authors:
• Yoshinao Muro,
• Kazumitsu Sugiura,
• Tsuneyo Mimori,
• Masashi Akiyama

• March 2015

Anti-PM/Scl antibodies are found in Japanese patients with various systemic autoimmune conditions besides myositis and scleroderma.

• Authors:
• Yoshinao Muro,
• Yuji Hosono,
• Kazumitsu Sugiura,
• Yasushi Ogawa,
• Tsuneyo Mimori,
• Masashi Akiyama

• March 2015

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

• Authors:
• Takaaki Matsumoto,
• Kenji Yokota,
• Masaki Sawada,
• Yoshie Hasegawa,
• Aya Takeuchi,
• Michihiro Kono,
• Masashi Akiyama

• January 2015

ELISA-Based Detection System for Protein S K196E Mutation, a Genetic Risk Factor for Venous Thromboembolism.

• Authors:
• Keiko Maruyama,
• Masashi Akiyama,
• Koichi Kokame,
• Akiko Sekiya,
• Eriko Morishita,
• Toshiyuki Miyata

Epididymitis with Epididymal Cyst Indicating Immunoglobulin A Vasculitis in an AdultAi Nanbu, Kazumitsu Sugiura, Naoto Sassa, Masashi Akiyama.

• Authors:
• Ai Nanbu,
• Kazumitsu Sugiura,
• Naoto Sassa,
• Masashi Akiyama

A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.

• Authors:
• Michihiro Kono,
• Yoshie Hasegawa-Murakami,
• Kazumitsu Sugiura,
• Masashi Ono,
• Kazuhiro Toriyama,
• Noriko Miyake,
• Atsushi Hatamochi,
• Yuzuru Kamei,
• Tomoki Kosho,
• Masashi Akiyama

Darier's Disease Complicated by Schizophrenia Caused by a Novel ATP2A2 Mutation.

• Authors:
• Takuya Takeichi,
• Kazumitsu Sugiura,
• Yuki Nakamura,
• Yumi Fujio,
• Izumi Konohana,
• Masashi Akiyama

Angiofibroma of Soft Tissue on the Cheek: Diagnosis Confirmed by Gene Rearrangement in NCOA2.

• Authors:
• Jin-Wook Jeong,
• Michihiro Kono,
• Yoshie Hasegawa-Murakami,
• Toru Motoi,
• Kenji Yokota,
• Takaaki Matsumoto,
• Kaori Kaibuchi-Ando,
• Yoichi Kato,
• Toyohiro Tada,
• Masashi Akiyama

Revertant Mosaicism in Ichthyosis with Confetti Caused by a Frameshift Mutation in KRT1.

• Authors:
• Shotaro Suzuki,
• Toshifumi Nomura,
• Toshinari Miyauchi,
• Masae Takeda,
• Hideki Nakamura,
• Satoru Shinkuma,
• Yasuyuki Fujita,
• Masashi Akiyama,
• Hiroshi Shimizu

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.

• Authors:
• Takuya Takeichi,
• Lu Liu,
• Alya Abdul-Wahab,
• James R McMillan,
• Kristina L Stone,
• Masashi Akiyama,
• Michael A Simpson,
• Maddy Parsons,
• Jemima E Mellerio,
• John A McGrath

Recurrent Cellulitis Caused by Helicobacter cinaedi in a Patient with X-linked Agammaglobulinaemia.

• Authors:
• Masayo Sugimoto,
• Takuya Takeichi,
• Hideki Muramatsu,
• Daiei Kojima,
• Yukari Osada,
• Michihiro Kono,
• Seiji Kojima,
• Masashi Akiyama

Ortner's syndrome caused by pulmonary arterial hypertension associated with mixed connective tissue disease.

• Authors:
• Mariko Ogawa-Momohara,
• Yoshinao Muro,
• Akihiro Hirashiki,
• Yasushi Fujimoto,
• Takahisa Kondo,
• Masashi Akiyama

Epstein-Barr Virus-associated Natural Killer/T-cell Lymphoma in a Patient Receiving Therapy with Anti-Tumour Necrosis Factor and Thiopurine.

• Authors:
• Chiaki Murase,
• Yasushi Ogawa,
• Azusa Yamamoto,
• Chisako Iriyama,
• Masashi Akiyama

Intratumoral expression levels of , , and along with oligoclonal T cell expansion associate with response to nivolumab in metastatic melanoma.

• Authors:
• Hiroyuki Inoue,
• Jae-Hyun Park,
• Kazuma Kiyotani,
• Makda Zewde,
• Azusa Miyashita,
• Masatoshi Jinnin,
• Yukiko Kiniwa,
• Ryuhei Okuyama,
• Ryota Tanaka,
• Yasuhiro Fujisawa,
• Hiroshi Kato,
• Akimichi Morita,
• Jun Asai,
• Norito Katoh,
• Kenji Yokota,
• Masashi Akiyama,
• Hironobu Ihn,
• Satoshi Fukushima,
• Yusuke Nakamura

Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.

• Authors:
• Ryo Fukaura,
• Takuya Takeichi,
• Yusuke Okuno,
• Daiei Kojima,
• Michihiro Kono,
• Kazumitsu Sugiura,
• Yasushi Suga,
• Masashi Akiyama

Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation.

• Authors:
• Takuya Takeichi,
• Yusuke Okuno,
• Chiyo Saito,
• Daiei Kojima,
• Michihiro Kono,
• Akimichi Morita,
• Kazumitsu Sugiura,
• Masashi Akiyama

Successful treatment of a cutaneous ulcer due to cholesterol crystal embolization with topical basic fibroblast growth factor.

• Authors:
• Takuya Takeichi,
• Masashi Akiyama

Near-infrared image-guided super-selective intra-arterial infusion of high-dose cisplatin for squamous cell carcinoma on the lower lip.

• Authors:
• Kenji Yokota,
• Takaaki Matsumoto,
• Yoshie Murakami,
• Masashi Akiyama

A solid variant of primary cutaneous cribriform carcinoma: a small, stable, long-term lesion.

• Authors:
• Kenji Yokota,
• Michihiro Kono,
• Shoichiro Mori,
• Kazue Shimizu,
• Takaaki Matsumoto,
• Masashi Akiyama

A case of lamellar ichthyosis due to a novel TGM1 mutation associated with Parkinson's disease.

• Authors:
• Runa Morita-Adachi,
• Takuya Takeichi,
• Yusuke Okuno,
• Shinsuke Kataoka,
• Shimpei Hoshino,
• Masashi Akiyama

Adult Staphylococcal Scalded Skin Syndrome Successfully Treated with Multimodal Therapy Including Intravenous Immunoglobulin.

• Authors:
• Toru Urata,
• Michihiro Kono,
• Yuka Ishihara,
• Masashi Akiyama

Leg ulcers associated with cutaneous vascular degeneration in a patient receiving pazopanib chemotherapy.

• Authors:
• Tomoyuki Hioki,
• Hiroyuki Takama,
• Sumiko Makita,
• Ko-Ron Chen,
• Daisuke Watanabe,
• Masashi Akiyama

Eosinophilic annular erythema localized on the neck.

• Authors:
• Tomoyuki Hioki,
• Hiroyuki Takama,
• Sumiko Makita,
• Akitaka Shibata,
• Masashi Akiyama,
• Daisuke Watanabe