【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

Chinese Journal of Dermatology ›› 2025, Vol. 58 ›› Issue (4): 365-367.doi: 10.35541/cjd.20220144

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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 Online:2025-04-15 Published:2025-04-03
Contact: Sang Yanmei E-mail:sangyanmei@sina.com
Supported by:
保定市科技计划项目（2041F002）

Abstract

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

References ［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.

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

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