误诊为着色性干皮病的遗传性对称性色素异常症1例

doi:10.35541/cjd.20230316

中华皮肤科杂志 ›› 2023, e20230316.doi: 10.35541/cjd.20230316

• 病例报告 • 上一篇

误诊为着色性干皮病的遗传性对称性色素异常症1例

何伟潘超兰王雨蒙曹巧玉赵安琪王昕怡曾琴王树翠黄海生李明

复旦大学附属儿科医院皮肤科，上海 201102

收稿日期:2023-06-06 修回日期:2023-07-27 发布日期:2023-11-03
通讯作者: 李明 E-mail:liming@fudan.edu.cn
基金资助:
国家自然科学基金（82073422、82273504）

A case of dyschromatosis symmetrica hereditaria misdiagnosed as xeroderma pigmentosum

He Wei, Pan Chaolan, Wang Yumeng, Cao Qiaoyu, Zhao Anqi, Wang Xinyi, Zeng Qin, Wang Shucui, Huang Haisheng, Li Ming

Department of Dermatology, Children′s Hospital of Fudan University, Shanghai 201102, China

Received:2023-06-06 Revised:2023-07-27 Published:2023-11-03
Contact: Li Ming E-mail:liming@fudan.edu.cn
Supported by:
National Nature Science Foundation（82073422、82273504）

摘要/Abstract

摘要： 先证者男，12岁，2022年8月因面部雀斑样损害，手背和足背大量色素沉着及色素减退斑就诊。患儿7岁时手背部出现褐色色素沉着斑及色素减退斑，后渐累及面部、足背部及四肢，呈对称分布……

何伟潘超兰王雨蒙曹巧玉赵安琪王昕怡曾琴王树翠黄海生李明. 误诊为着色性干皮病的遗传性对称性色素异常症1例[J]. 中华皮肤科杂志, 2023,e20230316. doi:10.35541/cjd.20230316

He Wei, Pan Chaolan, Wang Yumeng, Cao Qiaoyu, Zhao Anqi, Wang Xinyi, Zeng Qin, Wang Shucui, Huang Haisheng, Li Ming. A case of dyschromatosis symmetrica hereditaria misdiagnosed as xeroderma pigmentosum[J]. Chinese Journal of Dermatology,2023,e20230316. doi:10.35541/cjd.20230316

参考文献 9

［1］	Song B, Shiromoto Y, Minakuchi M, et al. The role of RNA editing enzyme ADAR1 in human disease［J］. Wiley Interdiscip Rev RNA, 2022,13（1）:e1665. doi: 10.1002/wrna.1665.
［2］	Liu Y, Xiao SX, Peng ZH, et al. Two frameshift mutations of the double⁃stranded RNA⁃specific adenosine deaminase gene in Chinese pedigrees with dyschromatosis symmetrica hereditaria［J］. Br J Dermatol, 2006,155（2）:473⁃476. doi: 10.1111/j.1365⁃2133.2006.07223.x.
［3］	Kono M, Akiyama M. Dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura: an update［J］. J Dermatol Sci, 2019,93（2）:75⁃81. doi: 10.1016/j.jdermsci.2019.01.004.
［4］	Bradford PT, Goldstein AM, Tamura D, et al. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow⁃up characterises the role of DNA repair［J］. J Med Genet, 2011,48（3）:168⁃176. doi: 10.1136/jmg.2010.083022.
［5］	Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum［J］. Orphanet J Rare Dis, 2011,6:70. doi: 10.1186/1750⁃1172⁃6⁃70.
［6］	Weon JL, Glass DA 2nd. Novel therapeutic approaches to xeroderma pigmentosum［J］. Br J Dermatol, 2019,181（2）:249⁃255. doi: 10.1111/bjd.17253.
［7］	Pan Y, Zhong W, Wang H, et al. Reticulate acropigmentation of Kitamura with a novel mutation in ADAM10［J］. Clin Exp Dermatol, 2019,44（6）:700⁃703. doi: 10.1111/ced.13832.
［8］	Al Hawsawi K, Al Aboud K, Ramesh V, et al. Dyschromatosis universalis hereditaria: report of a case and review of the literature［J］. Pediatr Dermatol, 2002,19（6）:523⁃526. doi: 10. 1046/j.1525⁃1470.2002.00225.x.
［9］	Urabe K, Hori Y. Dyschromatosis［J］. Semin Cutan Med Surg, 1997,16（1）:81⁃85. doi: 10.1016/s1085⁃5629（97）80039⁃9.

误诊为着色性干皮病的遗传性对称性色素异常症1例

A case of dyschromatosis symmetrica hereditaria misdiagnosed as xeroderma pigmentosum

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