文献

J-GLOBAL ID：202202216782600113   整理番号：22A1029337

症例報告:Mal de Meledaの1例の診断とイキセキスマブとアダリムマブの治療的試み【JST・京大機械翻訳】

Case Report: Challenges in the Diagnosis of a Case of Mal de Meleda and a Therapeutic Attempt of Ixekizumab and Adalimumab

著者 (28件)： Dai Yuwei (Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China) ,  Dai Yuwei (Institute of Dermatology, Anhui Medical University, Hefei, China) ,  Dai Yuwei (Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China) ,  Dai Yuwei (Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China) ,  Dai Yuwei (Ferry Outpatient Department, The Ferry Skin Research Institute, Hefei, China) ,  Zheng Xiaodong (Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China) ,  Zheng Xiaodong (Institute of Dermatology, Anhui Medical University, Hefei, China) ,  Zheng Xiaodong (Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China) ,  Zheng Xiaodong (Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China) ,  Zhang Qi (Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China) ,  Zhang Qi (Institute of Dermatology, Anhui Medical University, Hefei, China) ,  Zhang Qi (Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China) ,  Zhang Qi (Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China) ,  Zhang Qi (Ferry Outpatient Department, The Ferry Skin Research Institute, Hefei, China) ,  Hu Xia (Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China) ,  Hu Xia (Institute of Dermatology, Anhui Medical University, Hefei, China) ,  Hu Xia (Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China) ,  Hu Xia (Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China) ,  Hu Xia (Ferry Outpatient Department, The Ferry Skin Research Institute, Hefei, China) ,  Wang Peiguang (Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China) ,  Wang Peiguang (Institute of Dermatology, Anhui Medical University, Hefei, China) ,  Wang Peiguang (Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China) ,  Wang Peiguang (Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China) ,  Yang Sen (Department of Dermatology, The First Affiliated Hospital, Anhui Medical University, Hefei, China) ,  Yang Sen (Institute of Dermatology, Anhui Medical University, Hefei, China) ,  Yang Sen (Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China) ,  Yang Sen (Provincial Laboratory of Inflammatory and Immune Mediated Diseases, Hefei, China) ,  Yang Sen (Ferry Outpatient Department, The Ferry Skin Research Institute, Hefei, China)
資料名： Frontiers in Medicine (Web)  (Frontiers in Medicine (Web))
巻： 9  ページ： 821301  発行年： 2022年 
JST資料番号： U7079A  ISSN： 2296-858X  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： スイス (CHE)  言語： 英語 (EN)

抄録/ポイント： 背景:Mal de Meleda(MDM,OMIM 248300)は,出生後すぐに,対称性および進行性の掌足底過角症を特徴とする常染色体劣性疾患である。SLURP1遺伝子の変異はMDMを導くことができた。臨床的には,MDMは表現型変異と重複により他の型の角皮症と容易に誤診される。目的と方法:MDMの疑いのある患者を次世代シークエンシングとエソマイザの併用により確認し,患者をIxekizumabとAdalimumabの治療で試みた。【結果】SLURP1遺伝子におけるホモ接合突然変異c.256G>A(p.Gly86Arg)を,患者で同定した。患者の手,足および臀部における炎症性紅斑は,高用量のIxekizumの治療の後,軽度に緩和された。結論:著者らの知見はMDMの理解を高めるのに役立つ。イキセキズマブはMDMを治療するための潜在的戦略である可能性がある。Copyright 2022 The Author(s) All rights reserved. Translated from English into Japanese by JST.【JST・京大機械翻訳】

シソーラス用語： 対称性 ,  遺伝子 ,  炎症 ,  突然変異 ,  角化症 ,  遺伝学実験技術 ,  劣性 ,  紅斑 ,  常染色体 ,  *症例報告
準シソーラス用語： 出生 ,  足裏 ,  *アダリムマブ ,  次世代シークエンシング ,  イキセキズマブ , 【Automatic Indexing@JST】

著者キーワード (6件)： Mal de Meleda ,  MDM ,  Exomiser ,  HPO terms ,  Ixekizumab ,  Adalimumab

分類 (1件)： 先天性疾患・奇形一般  (GD03010V)

引用文献 (16件)：

• Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, et al. Mutations in the gene encoding SLURP-1 in Mal de Meleda. Hum Mol Genet. (2001) 10:875-80. doi: 10.1093/hmg/10.8.875
• Perez C, Khachemoune A. Mal de Meleda: a focused review. Am J Clin Dermatol. (2016) 17:63-70. doi: 10.1007/s40257-015-0157-1
• Zhou W, Zhang Z, Zhang J, Yao Z. First report of Mal de Meleda with pseudo-ainhum treated with gabapentin in a 17-year-old Chinese girl. Aust J Dermatol. (2021) 62:e466-8. doi: 10.1111/ajd.13625
• Arredondo J, Chernyavsky AI, Webber RJ, Grando SA. Biological effects of SLURP-1 on human keratinocytes. J Invest Dermatol. (2005) 125:1236-41. doi: 10.1111/j.0022-202X.2005.23973.x
• Adeyo O, Allan BB, Barnes RH 2nd, Goulbourne CN, Tatar A, Tu Y, et al. Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. J Invest Dermatol. (2014) 134:1589-98. doi: 10.1038/jid.2014.19

タイトルに関連する用語 (6件)： 症例報告 ,  MAL ,  診断 ,  アダリムマブ ,  治療 ,  試み