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  1. Article ; Online: A novel splicing CYLD variant associated with trichoepithelioma papulosum multiplex demonstrating intrafamilial severity variability.

    Fukaura, Ryo / Takeichi, Takuya / Noda, Tatsuhiro / Seishima, Mariko / Muro, Yoshinao / Akiyama, Masashi

    The Journal of dermatology

    2024  

    Language English
    Publishing date 2024-03-05
    Publishing country England
    Document type Letter
    ZDB-ID 800103-0
    ISSN 1346-8138 ; 0385-2407
    ISSN (online) 1346-8138
    ISSN 0385-2407
    DOI 10.1111/1346-8138.17182
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 1950: Show issues Location:
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  2. Article ; Online: Natal teeth, hypoplasia of the first toe, and growth retardation in a patient with severe epidermolysis bullosa simplex.

    Shimomura-Ishihara, Maiko / Takeichi, Takuya / Noda, Tatsuhiro / Koizumi, Haruka / Mitsuma, Teruyuki / Ogi, Tomoo / Muro, Yoshinao / Akiyama, Masashi

    The Journal of dermatology

    2023  Volume 51, Issue 5, Page(s) e175–e177

    MeSH term(s) Humans ; Epidermolysis Bullosa Simplex/complications ; Epidermolysis Bullosa Simplex/genetics ; Epidermolysis Bullosa Simplex/diagnosis ; Epidermolysis Bullosa Simplex/pathology ; Growth Disorders/etiology ; Growth Disorders/diagnosis ; Growth Disorders/complications ; Male ; Toes/abnormalities ; Female
    Language English
    Publishing date 2023-12-19
    Publishing country England
    Document type Case Reports ; Letter
    ZDB-ID 800103-0
    ISSN 1346-8138 ; 0385-2407
    ISSN (online) 1346-8138
    ISSN 0385-2407
    DOI 10.1111/1346-8138.17073
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 1950: Show issues Location:
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  3. Article ; Online: Prominent dermal accumulation of Russell bodies underlying pseudocarcinomatous hyperplasia with fungal infection.

    Noda, Tatsuhiro / Akashi, Norika / Shimomura, Maiko / Koizumi, Haruka / Mizuta, Miyuki / Nakajima, Kosei / Takeichi, Takuya / Mitsuma, Teruyuki / Akiyama, Masashi

    Nagoya journal of medical science

    2023  Volume 85, Issue 1, Page(s) 123–126

    Abstract: Blockade of the secretion of immunoglobulins leads to their accumulation in plasma cells, resulting in condensed immunoglobulins in the rough endoplasmic reticulum of plasma cells, termed Russell bodies. They are sometimes found in lymphoplasmacellular ... ...

    Abstract Blockade of the secretion of immunoglobulins leads to their accumulation in plasma cells, resulting in condensed immunoglobulins in the rough endoplasmic reticulum of plasma cells, termed Russell bodies. They are sometimes found in lymphoplasmacellular inflammation of the intestinal mucosa and in lymphoid cell malignancies, but only very rarely in skin diseases. Here, we report an 86-year-old female who presented with a lesion with the prominent accumulation of Russell bodies underlying pseudocarcinomatous hyperplasia with fungal infection in the face. Immunohistochemical staining showed the cells containing Russell bodies to be positive for CD138 and the Russell bodies to be positive for immunoglobulin κ and λ light chains. The present case suggests that when inflammatory cell infiltration with abundant round intracellular eosinophilic materials is observed in the dermis, the dermal accumulation of Russell bodies should be considered in cases with reactive pseudocarcinomatous hyperplasia with fungal infection.
    MeSH term(s) Female ; Humans ; Aged, 80 and over ; Hyperplasia/pathology ; Immunoglobulins ; Plasma Cells/pathology ; Skin Diseases/pathology ; Mycoses/pathology
    Chemical Substances Immunoglobulins
    Language English
    Publishing date 2023-02-27
    Publishing country Japan
    Document type Case Reports
    ZDB-ID 193148-9
    ISSN 2186-3326 ; 0027-7622
    ISSN (online) 2186-3326
    ISSN 0027-7622
    DOI 10.18999/nagjms.85.1.123
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.

    Mae, Kotoe / Kawakami, Yoshio / Kajita, Ai / Takeichi, Takuya / Noda, Tatsuhiro / Hirai, Yoji / Akiyama, Masashi / Morizane, Shin

    The Journal of dermatology

    2022  

    Language English
    Publishing date 2022-10-18
    Publishing country England
    Document type Letter
    ZDB-ID 800103-0
    ISSN 1346-8138 ; 0385-2407
    ISSN (online) 1346-8138
    ISSN 0385-2407
    DOI 10.1111/1346-8138.16601
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 1950: Show issues Location:
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  5. Article ; Online: Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.

    Noda, Tatsuhiro / Takeichi, Takuya / Tanahashi, Kana / Ogawa, Yasushi / Takeuchi, So / Yoshikawa, Takenori / Toriyama, Erika / Ashida, Miwa / Imakado, Sumihisa / Tsuchihashi, Hitoshi / Okamoto, Takashi / Okuno, Yusuke / Ogi, Tomoo / Sugiura, Kazumitsu / Kubo, Akiharu / Muro, Yoshinao / Suga, Yasushi / Ishida-Yamamoto, Akemi / Akiyama, Masashi

    Experimental dermatology

    2024  Volume 33, Issue 4, Page(s) e15072

    Abstract: Autosomal recessive congenital ichthyoses (ARCI) is a genetically heterogeneous condition that can be caused by pathogenic variants in at least 12 genes, including ABCA12. ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ... ...

    Abstract Autosomal recessive congenital ichthyoses (ARCI) is a genetically heterogeneous condition that can be caused by pathogenic variants in at least 12 genes, including ABCA12. ARCI mainly consists of congenital ichthyosiform erythroderma (CIE), lamellar ichthyosis (LI) and harlequin ichthyosis (HI). The objective was to determine previously unreported pathogenic variants in ABCA12 and to update genotype-phenotype correlations for patients with pathogenic ABCA12 variants. Pathogenic variants in ABCA12 were detected using Sanger sequencing or a combination of Sanger sequencing and whole-exome sequencing. To verify the pathogenicity of a previously unreported large deletion and intron variant, cDNA analysis was performed using total RNA extracted from hair roots. Genetic analyses were performed on the patients with CIE, LI, HI and non-congenital ichthyosis with unusual phenotypes (NIUP), and 11 previously unreported ABCA12 variants were identified. Sequencing of cDNA confirmed the aberrant splicing of the variant ABCA12 in the patients with the previously unreported large deletion and intron variant. Our findings expand the phenotype spectrum of ichthyosis patients with ABCA12 pathogenic variants. The present missense variants in ABCA12 are considered to be heterogenous in pathogenicity, and they lead to varying disease severities in patients with ARCI and non-congenital ichthyosis with unusual phenotypes (NIUP).
    MeSH term(s) Humans ; Ichthyosis, Lamellar/genetics ; Ichthyosis, Lamellar/pathology ; DNA, Complementary ; Genes, Recessive ; Mutation ; Ichthyosis/genetics ; Ichthyosiform Erythroderma, Congenital/genetics ; Genetic Association Studies ; ATP-Binding Cassette Transporters/genetics
    Chemical Substances DNA, Complementary ; ABCA12 protein, human ; ATP-Binding Cassette Transporters
    Language English
    Publishing date 2024-04-04
    Publishing country Denmark
    Document type Journal Article
    ZDB-ID 1130936-2
    ISSN 1600-0625 ; 0906-6705
    ISSN (online) 1600-0625
    ISSN 0906-6705
    DOI 10.1111/exd.15072
    Database MEDical Literature Analysis and Retrieval System OnLINE

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