Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis.
Two percent lovastatin ointment as a pathogenesis-directed monotherapy for porokeratosis.
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DOI：
10.1016/j.jdcr.2020.08.017
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发表时间：
2020-10
影响因子：
--
通讯作者：
Atzmony L
中科院分区：
文献类型：
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作者：
Ugwu N;Choate KA;Atzmony L
汗孔角化症是一种与甲氧戊酸途径基因杂合性突变相关的克隆性角化障碍。许多临床变异已被描述，播散性浅表光化性汗孔角化症是最常见的一种。皮肤损伤是由于MVK、MVD或PMVK的体细胞二次攻击突变造成的，导致各自酶的表达减少。1，2酶缺乏被认为导致该途径的最终产物胆固醇不足，并导致上游代谢物的积累。最近的证据表明，洛伐他汀/胆固醇联合治疗对播散性浅表光化性汗孔角化症、线状汗孔角化症和足底、掌侧及播散性汗孔角化症患者具有基于发病机制的局部治疗的有效性。3在这里，我们描述了一位家族性播散性浅表光化性汗孔角化症变异型患者，他成功地接受了洛伐他汀单一治疗。
Porokeratosis is a clonal disorder of keratinization associated with heterozygous mevalonate pathway gene mutations. Many clinical variants have been described, with disseminated superficial actinic porokeratosis being the most common one. Skin lesions result from somatic second-hit mutations in MVK, MVD, or PMVK, resulting in decreased expression of the respective enzymes. 1, 2 Enzyme deficiency is thought to lead to an insufficiency of the end product of the pathway, cholesterol, and the accumulation of upstream metabolites. Recent evidence has demonstrated the efficacy of a pathogenesis-based topical therapy with combined lovastatin/cholesterol therapy in patients with disseminated superficial actinic porokeratosis, linear porokeratosis, and porokeratosis plantaris, palmaris, et disseminata. 3 Here, we describe a patient with familial porokeratosis of the disseminated superficial actinic porokeratosis variant who was successfully treated with lovastatin monotherapy.