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Epidermal second-hit mutation in MVK gene associated with linear porokeratosis

Letters

Epidermal second-hit mutation in MVK gene associated with linear porokeratosis

Zhao Anqi
Wang Xinyi
Pan Chaolan
Wang Yumeng
Cao Qiaoyu
Li Min
Li Ming
Genes & Diseases第12卷, 第1期纸质出版 2025-01-01在线发表 2024-04-29
600

Porokeratosis encompasses a group of keratinization disorders with distinct clinical variants, including porokeratosis of Mibelli, disseminated superficial actinic porokeratosis, porokeratosis plantaris, palmaris et disseminata, and linear porokeratosis (LP).1 Familial porokeratosis has been associated with pathogenic variants in genes of the mevalonate pathway (such as MVK, PMVK, MVD, and FDPS), a vital metabolic pathway responsible for synthesizing sterols and isoprenoid metabolites.1, 2, 3

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