担当区分：筆頭著者  

DOI： 10.1111/1346-8138.17370

Open Access

DOI： 10.1093/bjd/ljae193

Open Access

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of Dermatology  

DOI： 10.1111/1346-8138.17081

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Experimental Dermatology  

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).

DOI： 10.1111/exd.15072

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of the American Academy of Dermatology  

DOI： 10.1016/j.jaad.2023.10.070

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DOI： 10.1111/exd.15072

Open Access

記述言語：日本語   出版者・発行元：(公社)日本皮膚科学会  

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of Dermatology  

DOI： 10.1111/1346-8138.16968

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出版者・発行元：(有)科学評論社  

DOI： 10.69337/j07608.2024098341

CiNii Research

記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Journal of Dermatology  

Pathogenic variants in ABCA12 are important causative genetic defects for autosomal recessive congenital ichthyoses (ARCI), which include congenital ichthyosiform erythroderma (CIE), harlequin ichthyosis, and lamellar ichthyosis. In addition, pathogenic variants in ABCA12 are known to cause a localized nevoid form of CIE due to recessive mosaicism. We previously reported siblings who carried an ABCA12 variant but did not show a “congenital” phenotype. They were considered to have pityriasis rubra pilaris (PRP). Here, we present a further patient with ABCA12 variants whose phenotype was not congenital ichthyosis, in an independent family. Notably, these three patients had geographic unaffected areas. Such areas are not usually found in patients with ARCI who have ABCA12 variants, suggesting mild phenotypes for these patients. Interestingly, the histological features of the ichthyotic lesions in these patients resembled those of PRP. All three patients had homozygous pathogenic missense variants in ABCA12. Our findings expand the phenotypic spectrum of patients with ABCA12 variants.

DOI： 10.1111/1346-8138.16967

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記述言語：英語   掲載種別：研究論文（学術雑誌）   出版者・発行元：Experimental Dermatology  

Pathogenic variants in MPO, which encodes the myeloperoxidase, were reported as causative genetic defects in several cases of generalised pustular psoriasis (GPP) in addition to patients with myeloperoxidase deficiency in 2020. However, which clinical subtypes of GPP patients have pathogenic variants in MPO remains largely undetermined, and elucidating this is clinically important. The present report outlines a mild case of GPP with a rare missense heterozygous variant, c.1810C>T p.(Arg604Cys), in MPO. Our structural analysis and functional assays to measure myeloperoxidase activity suggest that the present MPO substitution is a hypomorphic variant in MPO. Thus, the mild phenotype of the present GPP patient might be associated with an incomplete hypomorphic loss-of-function variant in MPO. Additionally, the severe intractable edematous pustules and erythema improved dramatically after five rounds of granulocyte and monocyte adsorption apheresis (GMA) therapy. This is the first report of GMA treatment for GPP associated with a pathogenic variant in MPO, as far as we know. Our findings suggest that GMA might be a useful and powerful tool for controlling GPP in patients with myeloperoxidase deficiency.

DOI： 10.1111/exd.14846

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出版者・発行元：(有)科学評論社  

DOI： 10.69337/j07608.2024004019

CiNii Research

担当区分：筆頭著者   記述言語：日本語   掲載種別：研究論文（学術雑誌）  

出版者・発行元：協和企画  

DOI： 10.24733/pd.0000003341

CiNii Research

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.1412206871

CiNii Research

DOI： 10.1016/j.jdermsci.2020.05.001

担当区分：筆頭著者  

DOI： 10.1111/jdv.15892

Open Access

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