Research Achievements - Original paper -

Prolonged subcutaneous swelling after head trauma: A rare but serious case of angiosarcoma of the scalp that should be known by dermatologists as well as by elderly-healthcare professionals

Murasawa E.

Geriatrics and Gerontology International ( Geriatrics and Gerontology International )  25 ( 1 ) 123 - 124   2025.01  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Trajectories of egg sensitization in childhood: Two birth cohorts in Asia and Europe

Nakamura T.

Allergy: European Journal of Allergy and Clinical Immunology ( Allergy: European Journal of Allergy and Clinical Immunology )  80 ( 1 ) 193 - 204   2025.01  [Refereed]

Research paper (journal)   International Co-author

DOI

Cutaneous Squamous Cell Carcinoma Producing Granulocyte Colony-stimulating Factor and Parathyroid Hormone-related Protein: A Case Report and Literature Review

Kumagai Takuya, Saito Masaya, Sato Takahiko, Inoue Junichi, Ishikawa Norihisa, Ono Tsuyoshi, Kono Michihiro, Takahashi Naoto

Internal Medicine ( 一般社団法人 日本内科学会 )  advpub ( 0 )   2025  [Refereed]

Research paper (journal)   Domestic Co-author

<p>We herein report a case of cutaneous squamous cell carcinoma (SCC) characterized by paraneoplastic hypercalcemia-leukocytosis syndrome. The patient presented with systemic symptoms, including anorexia, a fever, and a tumoral lesion on the upper arm. Laboratory test results revealed hypercalcemia and leukocytosis. A tissue biopsy confirmed SCC, and further investigation revealed elevated parathyroid hormone-related protein (PTHrP) and granulocyte-colony stimulating factor (G-CSF) levels. Immunostaining demonstrated G-CSF production by the tumor cells. Radiation therapy was administered, which improved leukocytosis and decreased G-CSF and PTHrP levels. Through a case report and literature review, we explored the clinical characteristics of tumors that produce G-CSF and PTHrP. </p>

DOI PubMed CiNii Research

Treating epidermolytic ichthyosis and ichthyosis with confetti with epidermal autografts cultured from revertant skin

Tanahashi K.

British Journal of Dermatology ( British Journal of Dermatology )  191 ( 3 ) 397 - 404   2024.09  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Neonatal skin dysbiosis to infantile atopic dermatitis: Mitigating effects of skin care

Aoyama R.

Allergy: European Journal of Allergy and Clinical Immunology ( Allergy: European Journal of Allergy and Clinical Immunology )  79 ( 6 ) 1618 - 1622   2024.06  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Optimizing random skin biopsies: a review of techniques and indications for intravascular large B-cell lymphoma

Enzan N.

International Journal of Hematology ( International Journal of Hematology )  119 ( 6 ) 619 - 625   2024.06  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Real-world retention rates and effectiveness of secukinumab in psoriasis: Results from a multicenter cohort study (RAILWAY)

Tada Y.

Journal of Dermatology ( Journal of Dermatology )  50 ( 11 ) 1415 - 1426   2023.11  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Eosinophil-derived galectin-10 upregulates matrix metalloproteinase expression in bullous pemphigoid blisters

Sato T.

Journal of Dermatological Science ( Journal of Dermatological Science )  112 ( 1 ) 6 - 14   2023.10  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

FLG mutations, eczema control, and respiratory symptom at one-year-old in early-onset atopic dermatitis infants (PACI-ON cohort study)

Kumagai F.

Journal of Dermatological Science ( Journal of Dermatological Science )  109 ( 2 ) 99 - 101   2023.02  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Comment on skin biopsies for diagnosing intravascular lymphoma: A retrospective study of diagnostic accuracy

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

DOI

Dual clinical features of fine and rough scales seen in a combined ichthyosis vulgaris and X-linked recessive ichthyosis patient with atopic dermatitis

Nakane Y.

Journal of Dermatology ( Journal of Dermatology )  51 ( 2 ) e49 - e50   2023  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Minatogawa M.

Journal of medical genetics ( Journal of medical genetics )  59 ( 9 ) 865 - 877   2022.09  [Refereed]

Research paper (journal)   International Co-author

DOI

Darier disease successfully treated with a topical agent containing vitamin A (retinyl palmitate), vitamin E, and urea

Miyazaki A.

Journal of Dermatology ( Journal of Dermatology )  49 ( 8 ) 779 - 782   2022.08  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Switch from dabrafenib/trametinib combination therapy to encorafenib/binimetinib combination therapy with transition of serum lactate dehydrogenase level in melanoma: A case report

Sato T.

Dermatologic Therapy ( Dermatologic Therapy )  35 ( 4 )   2022.04  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Blaschkoid expansive eccrine nevus with a trace of hyperhidrosis confirmed by a sensitivity-reduced iodine—starch test

Tomura Y.

European Journal of Dermatology ( European Journal of Dermatology )  32 ( 2 ) 280 - 281   2022.03  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Prochlorperazine-induced photoallergic reaction confirmed by photopatch test

Komatsuda E.

Journal of Dermatology ( Journal of Dermatology )  48 ( 9 ) e464 - e465   2021.09  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Subcutaneous giant trichoblastoma in the abdomen

Goto K.

Journal of Dermatology ( Journal of Dermatology )  48 ( 8 ) e393 - e394   2021.08  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

MYB Translocations in Both Myoepithelial and Ductoglandular Epithelial Cells in Adenoid Cystic Carcinoma: A Histopathologic and Genetic Reappraisal in Six Primary Cutaneous Cases

Goto K.

American Journal of Dermatopathology ( American Journal of Dermatopathology )  43 ( 4 ) 278 - 283   2021.04  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Pigmentary anomalies and neurologic symptoms in two siblings

Sanke S.

Pediatric Dermatology ( Pediatric Dermatology )  38 ( 2 ) e16 - e17   2021.03  [Refereed]

Research paper (journal)   International Co-author

DOI

A case of adolescent striae distensae accompanied by ileitis

Shibata T.

Journal of Dermatology ( Journal of Dermatology )  48 ( 5 ) e219 - e220   2021  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Pathogenesis of a variant in the 5' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria.

Suganuma M, Kono M, Yamanaka M, Akiyama M

Pigment Cell & Melanoma Research     2020.01  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

A patient with bullous pemphigoid with mucosal involvement serologically positive for anti-BP230 autoantibodies only.

Taki T, Takeichi T, Kono M, Sugiura K, Sugimura Y, Ishii N, Hashimoto T, Akiyama M.

Br J Dermatol.   182 ( 1 ) 221 - 223   2020.01  [Refereed]

Research paper (journal)   Domestic Co-author

Atopic dermatitis without serum immunoglobulin E elevation or loss-of-function filaggrin gene mutation in a patient with X-linked agammaglobulinemia.

Yamazaki E, Kikuchi K, Sasahara Y, Kono M, Akiyama M, Aiba S.

J Dermatol.   47 ( 1 ) 58 - 60   2020.01  [Refereed]

Research paper (journal)   Domestic Co-author

NGS-based targeted resequencing identified rare subtypes of albinism; providing accurate molecular diagnosis for Japanese patients with albinism.

Okamura K, Hayashi M, Abe Y, Kono M, Nakajima K, Aoyama Y, Nishigori C, Ishimoto H, Ishimatsu Y, Nakajima M, Hozumi Y, Suzuki T.

Pigment Cell Melanoma Res.   32 ( 6 ) 848 - 853   2019.11  [Refereed]

Research paper (journal)   Domestic Co-author

Antiphospholipid antibody-positive Sjögren's syndrome with leg ulcers.

Ota S, Muro Y, Kono M, Goto N, Akiyama M

J Dermatol.   46 ( 11 ) e429 - e430   2019.11  [Refereed]

Research paper (journal)   Domestic Co-author

A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome.

Shiratori T, Takeichi T, Kono M, Nishida M, Imanishi A, Maekawa N, Kawamura N, Fukai K.

Clin Exp Dermatol.   44 ( 7 ) e240 - e241   2019.10  [Refereed]

Research paper (journal)   Domestic Co-author

Drug-induced acute eosinophilic pneumonia due to hydroxychloroquine in a chilblain lupus patient.

Ishiguro Y, Muro Y, Murase C, Takeichi T, Kono M, Adachi R, Takahashi K, Akiyama M.

J Dermatol.   46 ( 10 ) e356 - e357   2019.10  [Refereed]

Research paper (journal)   Domestic Co-author

Multiple pebble-like ectopic nails as a subsequent complication of phenol cauterization treatment for onychocryptosis.

Fujita-Tanaka H, Kono M, Sakakibara A, Akiyama M

J Dermatol.   46 ( 7 ) e226 - e227   2019.07  [Refereed]

Research paper (journal)   Domestic Co-author

A unilateral case of multiple minute digitate hyperkeratosis.

Okochi S, Kono M, Takama H, Takeichi T, Muro Y, Akiyama M.

J Dermatol.   46 ( 6 ) e210 - e211   2019.06  [Refereed]

Research paper (journal)   Domestic Co-author

A Japanese case of Galli–Galli disease due to a previously unreported POGLUT1 mutation.

Kono M, Sawada M, Nakazawa Y, Ogi T, Muro Y, Akiyama M.

Acta Dermato-Venereol.   99 ( 4 ) 458 - 459   2019.04  [Refereed]

Research paper (journal)   Domestic Co-author

Acrodermatitis continua of Hallopeau with dense infiltration of IgG4-positive cells in the lesional dermis.

Ogawa-Momohara M, Muro Y, Nakaguro M, Takeichi T, Kono M, Akiyama M.

Br J Dermatol.   180 ( 4 ) 941 - 942   2019.04  [Refereed]

Research paper (journal)   Domestic Co-author

Hyaline vascular-type unicentric Castleman disease presenting as a subcutaneous nodule in a child.

Hanamura T, Kono M, Yokota K, Takeichi T, Kohno K, Nakamura S, Mitsuma T, Nakajima K, Muro Y, Akiyama M

J Dermatol.   46 ( 3 ) e97 - e99   2019.03  [Refereed]

Research paper (journal)   Domestic Co-author

Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: an update.

Kono M, Akiyama M.

J Dermatol Sci.   93 ( 2 ) 75 - 81   2019.02  [Refereed]

Research paper (journal)   Domestic Co-author

A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients.

Okamura K, Hayashi M, Nakajima O, Kono M, Abe Y, Hozumi Y, Suzuki T

Pigment Cell Melanoma Res.   32 ( 1 ) 79 - 84   2019.01  [Refereed]

Research paper (journal)   Domestic Co-author

Prognosis of dysphagia in dermatomyositis.

Ogawa-Momohara M, Muro Y, Mitsuma T, Katayama M, Yanaba K, Nara M, Kakeda M, Kono M, Akiyama M

Clin Exp Rheumatol.   37 ( 1 ) 165 - 165   2019.01  [Refereed]

Research paper (journal)   Domestic Co-author

Dyschromatosis symmetrica hereditaria might be successfully controlled by topical sunscreen.

Kono M, Okamoto T, Takeichi T, Muro Y, Akiyama M

Eur J Dermatol.   28 ( 6 ) 840 - 841   2018.12  [Refereed]

Research paper (journal)   Domestic Co-author

Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency.

Takeichi T, Okuno Y, Kawamoto A, Inoue T, Nagamoto E, Murase C, Shimizu E, Tanaka K, Kageshita Y, Fukushima S, Kono M, Ishikawa J, Ihn H, Takahashi Y, Akiyama M.

J Lipid Res.   59 ( 12 ) 2413 - 2420   2018.12  [Refereed]

Research paper (journal)   Domestic Co-author

Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.

Takeichi T, Honda A, Okuno Y, Kojima D, Kono M, Nakamura Y, Tohyama M, Yanaka T, Aoyama Y, Akiyama M

Br J Dermatol.   179 ( 5 ) 1186 - 1188   2018.11  [Refereed]

Research paper (journal)   Domestic Co-author

Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus of KIT.

Takeichi T, Sugiura K, Tanahashi K, Noda K, Kono M, Akiyama M

Br J Dermatol.   179 ( 5 ) 1210 - 1211   2018.11  [Refereed]

Research paper (journal)   Domestic Co-author

Mild Hailey-Hailey disease cases with aberrant splicing variants of ATP2C1 successfully controlled with excimer light.

Kono M, Niizawa M, Takeichi T, Muro Y, Akiyama M

J Eur Acad Dermatol Venereol.   32 ( 11 ) e413 - e416   2018.11  [Refereed]

Research paper (journal)   Domestic Co-author

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

Ogawa-Momohara M, Muro Y, Mitsuma T, Katayama M, Yanaba K, Nara M, Kakeda M, Kono M, Akiyama M

Clin Exp Rheumatol.   36 ( 6 ) 990 - 995   2018.11  [Refereed]

Research paper (journal)   Domestic Co-author

A case of mild X-linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia

Maki Y, Takeichi T, Kono M, Tanaka Y, Akiyama M

J Dermatol.   45 ( 10 ) e275 - e276   2018.10  [Refereed]

Research paper (journal)   Domestic Co-author

Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA binding domain of ADAR1

Kono M, Suganuma M, Shimada T, Ishikura Y, Watanabe S, Takeichi T, Muro Y, Akiyama M

J Eur Acad Dermatol Venereol.   32 ( 10 ) e394 - e396   2018.10  [Refereed]

Research paper (journal)   Domestic Co-author

Benefit of high resolution, real-time color-imaging of lymphatic flow in sentinel lymph node biopsy.

Yokota K, Matsumoto T, Urata T, Goto K, Kono M, Akiyama M.

Eur J Dermatol.   28 ( 5 ) 680 - 681   2018.10  [Refereed]

Research paper (journal)   Domestic Co-author

Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A-I editing efficiency of ADAR1 mutants and phenotype expression

Kono M, Suganuma M, Dutta A, Ghosh SK , Takeichi T, Muro Y, Akiyama M

Br J Dermatol.   179 ( 2 ) 509 - 511   2018.08  [Refereed]

Research paper (journal)   Domestic Co-author

Eosinophilia and systemic symptoms with transient ageusia: a drug reaction caused by zonisamide

Adachi R, Kono M, Takeichi T, Muro Y, Akiyama M

Eur J Dermatol.   28 ( 4 ) 523 - 524   2018.08  [Refereed]

Research paper (journal)   Domestic Co-author

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

Hanamura T, Takeichi T, Okuno Y, Ichikawa D, Kono M, Akiyama M.

J Dermatol.   45 ( 7 ) e207 - e208   2018.07  [Refereed]

Research paper (journal)   Domestic Co-author

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children.

Kono M, Akiyama M, Inoue Y, Nomura T, Hata A, Okamoto Y, Takeichi T, Muro Y, McLean WHI, Shimizu H, Sugiura K, Suzuki Y, Shimojo N.

Br J Dermatol.   179 ( 1 ) 190 - 191   2018.07  [Refereed]

Research paper (journal)   Domestic Co-author

Sunlight is merely a temporary modifier for dyschromatosis symmetrica hereditaria.

Kono M, Miyamura Y, Tomita Y, Akiyama M.

Eur J Dermatol.   28 ( 2 ) 251 - 252   2018.04  [Refereed]

Research paper (journal)   Domestic Co-author

Dermoscopic features of endocrine mucin-producing sweat gland carcinoma.

Hasegawa-Murakami Y, Kono M, Yokota K, Inaba H, Fukumoto T, Akiyama M

J Dermatol.   45 ( 3 ) 353 - 356   2018.03  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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

Yokota K, Kono M, Shimizu K, Sakakibara A, Akiyama M.

J Dermatol.   45 ( 3 ) 357 - 360   2018.03  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Author’s response to the comment to ‘Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis’.

Sekiya A, Kono M, Akiyama M.

J Eur Acad Dermatol Venereol.   32 ( 5 ) e178 - e179   2018.03  [Refereed]

Research paper (journal)   Domestic Co-author

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria

Kobayashi T, Kono M, Suganuma M, Akita H, Takai A, Tsustui K, Inasaka Y, Takeichi T, Muro Y, Akiyama M.

Nagoya J Med Sci.   80 ( 2 ) 267 - 277   2018.03  [Refereed]

Research paper (journal)   Domestic Co-author

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

Oi R, Takeichi1 T, Okuno Y, Kojima D, Sugawara K, Kono M, Muramatsu H, Akiyama M

J Dermatol Sci.   90 ( 2 ) 216 - 218   2018.03  [Refereed]

Research paper (journal)   Domestic Co-author

A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi–Goutières and Singleton–Merten syndromes in a single patient.

Takeichi T, Katayama C, Tanaka T, Okuno Y, Murakami N, Kono M, Sugiura K, Aoyama Y, Akiyama M

Br J Dermatol.   178 ( 2 ) e111 - e113   2018.02  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Trichothiodystrophy, complementation group A complicated with squamous cell carcinoma.

Takeichi T, Tomimura S, Okuno Y, Hamada M, Kono M, Sugiura K, Akiyama M

J Eur Acad Dermatol Venereol.   32 ( 2 ) e75 - e77   2018.02  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Superficial epidermolytic ichthyosis concomitant with atopic dermatitis.

Shimada H, Takeo N, Saito-Shono T, Ishikawa K, Sakai T, Goto M, Hatano Y, Fujiwara S, Matsuda M, Hamada T, Nakama T, Hashimoto T, Kono M, Akiyama M, Kitajima Y.

Eur J Dermatol.   28 ( 1 ) 94 - 96   2018.02  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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

Adachi R, Muro Y, Kono M, Akiyama M

Eur J Dermatol.   28 ( 1 ) 116 - 118   2018.02  [Refereed]

Research paper (journal)   Domestic Co-author

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

Urata T, Kono M, Ishihara Y, Akiyama M

Acta Dermato-Venereol.   98 ( 1 ) 136 - 137   2018.01  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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

Suzuki Y, Kato S, Satou A, Shimizu-Kohno K, Asano N, Kono M, Kato Y, Akiyama M, Nakamura S

Histopathology.   71 ( 6 ) 972 - 984   2017.12  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Image Gallery: Unilaterally dominant acrokeratoelastoidosis (punctate palmoplantar keratoderma type 3).

Taki T, Ogawa Y, Sakakibara A, Kono M, Akiyama M.

Br J Dermatol.   177 ( 4 ) e157 - e157   2017.10  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation.

Takeichi T, Kobayashi A, Ogawa E, Okuno Y, Kataoka S, Kono M, Sugiura K, Okuyama R, Akiyama M.

Br J Dermatol.   177 ( 4 ) e133 - e135   2017.10  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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.

Takeichi T, Tsukamoto K, Okuno Y, Kojima D, Kono M, Suga Y, Akiyama M.

J Dermatol Sci.   88 ( 1 ) 144 - 146   2017.10  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7.

Takeichi T, Nomura T, Takama H, Kono M, Sugiura K, Watanabe D, Shimizu H, Simpson MA, McGrath JA, Akiyama M.

Br J Dermatol.   177 ( 3 ) e62 - e64   2017.09  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

A child with epidermolytic ichthyosis from a parent with epidermolytic nevus: risk evaluation of transmission from mosaic to germline.

Kono M, Suga Y, Akashi T, Ito Y, Takeichi T, Muro Y, Akiyama M.

J Invest Dermatol.   137 ( 9 ) 2024 - 2026   2017.09  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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

Muro Y, Nakanishi H, Katsuno M, Kono M, Akiyama M

Clinica Chimica Acta.   472   1 - 4   2017.09  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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

Ogawa Y, Kono M, Akiyama M.

Pigment Cell Melanoma Res.   30 ( 5 ) 501 - 504   2017.09  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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

Yokota K, Kono M, Mori S, Shimizu K, Matsumoto T, Akiyama M.

Eur J Dermatol.   27 ( 4 ) 419 - 421   2017.08  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Mutational analysis of 29 patients with autosomal recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal recessive woolly hair and hypotrichosis in Japan.

Takeichi T, Tanahashi K, Taki T, Kono M, Sugiura K and Akiyama M.

Br J Dermatol.   177 ( 1 ) 290 - 292   2017.07  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Hailey-Hailey disease due to ATP2C1 splice-site mutation, successfully treated with minocycline hydrochloride.

Kono M, Niizawa M, Takeichi T, Muro Y, Akiyama M

J Eur Acad Dermatol Venereol.   32 ( 1 ) e19 - e20   2017.07  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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

Muro Y, Iwata N, Tanaka Y, Kodera M, Kono M, Akiyama M.

J Rheumatol.   44 ( 5 ) 711 - 712   2017.05  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Congenital ichthyosis and recurrent eczema associated with a novel ALOXE3 mutation.

Takeichi T, Okuno Y, Saito C, Kojima D, Kono M, Morita A, Sugiura K, Akiyama M.

Acta Dermato-Venereol.   97 ( 4 ) 532 - 533   2017.04  [Refereed]

Research paper (journal)   Domestic Co-author

Punctate Palmoplantar Keratoderma Type 1 with a Novel AAGAB Frameshift Mutation: intrafamilial phenotype variation due to ageing.

Kono M*, Fukai K, Shimizu N, Nagao J, Takeichi T, Tsuruta D, Sugiura K, Akiyama M.

J Eur Acad Dermatol Venereol.   31 ( 3 ) e175 - e176   2017.03  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Striate palmoplantar keratoderma showing transgrediens in a patient harboring heterozygous nonsense mutations in both DSG1 and SERPINB7.

Fukaura R, Takeichi T, Okuno Y, Kojima D, Kono M, Sugiura K, Suga Y, Akiyama M.

Acta Derm Venereol.   97 ( 3 ) 399 - 401   2017.03  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10.

Kono M, Fukai K, Omura R, Sugawara K, Tsuruta D, K Sugiura K, Akiyama M.

J Eur Acad Dermatol Venereol.   31 ( 2 ) e68 - e69   2017.02  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Recurrent cellulitis caused by Helicobacter cinaedi in a patient with X-linked agammaglobulinaemia.

Sugimoto M*, Takeichi T*, Muramatsu H, Kojima D, Osada Y, Kono M, Kojima S, Akiyama M. (* joint first authors)

Acta Derm Venereol.   97 ( 2 ) 277 - 278   2017.02  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Ripple-pattern lichen amyloidosis in a case of ichthyosis vulgaris with a novel FLG mutation.

Kono M*, Nishida K, Takeichi T, Sugiura K, Akiyama M.

J Eur Acad Dermatol Venereol.   31 ( 2 ) e130 - e132   2017.02  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Angiofibroma of soft tissue in the cheek: diagnosis confirmed by gene rearrangement in NCOA2.

Jeong JW, Kono M*, Hasegawa-Murakami Y, Motoi T, Yokota K, Matsumoto T, Kaibuchi-Ando K, Kato Y, Tada T, Akiyama M.

Acta Derm Venereol.   97 ( 1 ) 133 - 134   2017.01  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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

Takeichi T, Togawa Y, Taniguchi R, Okuno Y, Kono M, Matsue H, Sugiura K, Akiyama M.

J Dermatol Sci.   85 ( 1 ) 58 - 60   2017.01  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis.

Sekiya A, Kono M, Tsujiuchi H, Kobayashi T, Nomura T, Kitakawa M, Suzuki N, Yamanaka K, Sueki H, McLean WHI, Shimizu H, Akiyama M*.

J Eur Acad Dermatol Venereol.   31 ( 1 ) 158 - 162   2017.01  [Refereed]

Research paper (journal)   Domestic Co-author

DOI

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