【开放获取】   KITLG基因突变致儿童家族性进行性色素沉着和色素减退症1例

doi:10.35541/cjd.20220144

中华皮肤科杂志 ›› 2025, Vol. 58 ›› Issue (4): 365-367.doi: 10.35541/cjd.20220144

【开放获取】 KITLG基因突变致儿童家族性进行性色素沉着和色素减退症1例

卢亚超¹ 李珍¹ 雷淑琴¹ 李荣敏¹ 王杰英¹ 常洁¹ 宋梅¹ 董浩颖¹ 桑艳梅²

¹保定市儿童医院儿童呼吸消化疾病临床研究重点实验室北京儿童医院保定医院内分泌科，保定 071000；²国家儿童医学中心首都医科大学附属北京儿童医院内分泌遗传代谢科，北京 100045

收稿日期:2022-03-07 修回日期:2023-08-04 发布日期:2025-04-03
通讯作者: 桑艳梅 E-mail:sangyanmei@sina.com

Family progressive hyper- and hypo-pigmentation caused by KITLG gene mutation in an infant

Lu Yachao¹, Li Zhen¹, Lei Shuqin¹, Li Rongmin¹, Wang Jieying¹, Chang Jie¹, Song Mei¹, Dong Haoying¹, Sang Yanmei²

¹Department of Endocrinology, Key Laboratory of Clinical Research on Children′s Respiratory and Digestive Diseases, Baoding Children′s Hospital, Baoding Hospital, Beijing Children′s Hospital, Baoding 071000, Hebei, China;²Department of Endocrinology, Genetics and Metabolism, National Children′s Medical Center, Beijing Children′s Hospital, Capital Medical University, Beijing 100045, China

Received:2022-03-07 Revised:2023-08-04 Published:2025-04-03
Contact: Sang Yanmei E-mail:sangyanmei@sina.com
Supported by:
保定市科技计划项目（2041F002）

摘要/Abstract

摘要： 患儿男，1岁，出生即发现全身皮肤色素沉着，随着年龄增长全身皮肤色素沉着愈明显，于2020年11月就诊。患儿系第2孕第2产，足月剖宫产，出生体重4 kg，出生身长50 cm……

卢亚超李珍雷淑琴李荣敏王杰英常洁宋梅董浩颖桑艳梅. 【开放获取】 KITLG基因突变致儿童家族性进行性色素沉着和色素减退症1例[J]. 中华皮肤科杂志, 2025,58(4):365-367. doi:10.35541/cjd.20220144

Lu Yachao, Li Zhen, Lei Shuqin, Li Rongmin, Wang Jieying, Chang Jie, Song Mei, Dong Haoying, Sang Yanmei. Family progressive hyper- and hypo-pigmentation caused by KITLG gene mutation in an infant[J]. Chinese Journal of Dermatology, 2025, 58(4): 365-367.doi:10.35541/cjd.20220144

参考文献 6

［1］	Chernosky ME, Anderson DE, Chang JP, et al. Familial progressive hyperpigmentation［J］. Arch Dermatol, 1971,103（6）:581⁃591 passim.
［2］	Rebora A, Parodi A. Universal inherited melanodyschromatosis: a case of melanosis universalis hereditaria?［J］. Arch Dermatol, 1989,125（10）:1442⁃1443.
［3］	Wang ZQ, Si L, Tang Q, et al. Gain⁃of⁃function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation［J］. Am J Hum Genet, 2009,84（5）:672⁃677. doi: 10.1016/j.ajhg.2009.03.019.
［4］	Picardo M, Cardinali G. The genetic determination of skin pigmentation: KITLG and the KITLG/c⁃Kit pathway as key players in the onset of human familial pigmentary diseases［J］. J Invest Dermatol, 2011,131（6）:1182⁃1185. doi: 10.1038/jid.2011.67.
［5］	王克玉, 李春阳, 冯进波. 干细胞因子及其受体在寻常型白癜风表皮中的表达［J］. 中华皮肤科杂志, 2006,39（9）:533⁃535. doi: 10.3760/j.issn:0412⁃4030.2006.09.014.
［6］	Cuell A, Bansal N, Cole T, et al. Familial progressive hyper⁃ and hypopigmentation and malignancy in two families with new mutations in KITLG［J］. Clin Exp Dermatol, 2015,40（8）:860⁃864. doi: 10.1111/ced.12702.

【开放获取】 KITLG基因突变致儿童家族性进行性色素沉着和色素减退症1例

Family progressive hyper- and hypo-pigmentation caused by KITLG gene mutation in an infant

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