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A follow-up report of acral melanoma in a patient with Nagashima-type palmoplantar keratosis: validation of SERPINB7 mutation and local recurrence.

作者信息

Kogame Toshiaki, Kaku Yo, Endo Yuichiro, Yamashita Chisato, Horiguchi Ayumi, Kubo Akiharu, Kabashima Kenji

机构信息

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan, Ijinkai Takeda General Hospital, Kyoto, Japan.

Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

出版信息

Eur J Dermatol. 2018 Aug 1;28(4):519-520. doi: 10.1684/ejd.2018.3317.

DOI:10.1684/ejd.2018.3317
PMID:29888704
Abstract
摘要

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1
A follow-up report of acral melanoma in a patient with Nagashima-type palmoplantar keratosis: validation of SERPINB7 mutation and local recurrence.一名患有长岛型掌跖角化病患者的肢端黑色素瘤随访报告:SERPINB7 突变验证与局部复发
Eur J Dermatol. 2018 Aug 1;28(4):519-520. doi: 10.1684/ejd.2018.3317.
2
A Case of Malignant Melanoma Arising in Nagashima-type Palmoplantar Keratosis.一例发生于长岛型掌跖角化症的恶性黑色素瘤病例。
Acta Derm Venereol. 2019 Dec 1;99(13):1311-1312. doi: 10.2340/00015555-3326.
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Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency.长岛型掌跖角化病:一种由丝氨酸蛋白酶抑制剂B7缺乏引起的常见亚洲型疾病。
J Invest Dermatol. 2014 Aug;134(8):2076-2079. doi: 10.1038/jid.2014.156.
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Detection of SERPINB7 mutation can distinguish Nagashima-type palmoplantar keratoderma from other keratodermas with palmoplantar lesions.SERPINB7突变的检测可将长岛型掌跖角化病与其他伴有掌跖皮损的角化病区分开来。
Clin Exp Dermatol. 2017 Apr;42(3):342-345. doi: 10.1111/ced.13059. Epub 2017 Feb 16.
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A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7.一例由SERPINB7基因突变引起的长岛型掌跖角化病散发病例。
Clin Exp Dermatol. 2016 Oct;41(7):811-3. doi: 10.1111/ced.12849.
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Nagashima-type palmoplantar keratosis caused by compound heterozygous mutations in SERPINB7.由SERPINB7基因复合杂合突变引起的长岛型掌跖角化病。
Eur J Dermatol. 2015 Apr;25(2):202-3. doi: 10.1684/ejd.2014.2515.
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Nagashima-type palmoplantar keratoderma and malignant melanoma in Japanese patients.日本患者中的长岛型掌跖角化病与恶性黑色素瘤
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Identification of previously unknown SERPINB7 splice variants in patients with Nagashima-type palmoplantar keratosis reveals the importance of the CD-loop of SERPINB7.
Br J Dermatol. 2015 Nov;173(5):1288-90. doi: 10.1111/bjd.13890. Epub 2015 Aug 19.
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Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis.
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Progressive Nagashima-type palmoplantar keratosis in a Chinese patient with recurrent c.796C>T mutation in .一名中国患者发生进行性长岛型掌跖角化病,伴有反复出现的c.796C>T突变 。 (原文此处不完整,可能缺失了某个基因名称等关键信息)
Indian J Dermatol Venereol Leprol. 2017 Jan-Feb;83(1):136. doi: 10.4103/0378-6323.187093.

引用本文的文献

1
The tumor genetics of acral melanoma: What should a dermatologist know?肢端黑色素瘤的肿瘤遗传学:皮肤科医生应该了解什么?
JAAD Int. 2020 Dec;1(2):135-147. doi: 10.1016/j.jdin.2020.07.004. Epub 2020 Aug 13.
2
Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management.Nagashima 型掌跖角化病:临床特征、遗传特征及临床管理。
Biomed Res Int. 2021 Jan 27;2021:8841994. doi: 10.1155/2021/8841994. eCollection 2021.
3
Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.
伴有丝氨酸蛋白酶抑制剂B7基因复合杂合突变的长岛型掌跖角化病
Case Rep Dermatol. 2020 Nov 17;12(3):241-248. doi: 10.1159/000509535. eCollection 2020 Sep-Dec.