局部曲美替尼治疗伴有HRAS突变的发炎的尼维斯皮兹。

IF 1.2 4区 医学 Q3 DERMATOLOGY
Lauren Parsons, Alice Chen, Brooke Bertus, Colleen Beatty, Julian Stashower, Patrick Tomboc, Sebastian Brooke, Zachary Zinn
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引用次数: 0

摘要

由于在美容敏感区域的潜在毁容,治疗肿胀的斯皮兹痣是具有挑战性的。我们报告的情况下,儿童患者进行性放大斯皮兹痣引起的痣外溢在脸上与相关的致病性HRAS p.G13R突变显示下一代测序(NGS)。患者接受1%复方外用曲美替尼乳膏治疗,经过12周每日两次的治疗后,临床表现明显改善。我们的病例强调了MEK抑制作为一种靶向的、非手术治疗hras突变的恶性斯皮兹痣的潜在作用,并增加了对其遗传病因的了解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Topical Trametinib for Agminated Spitz Nevi Harboring HRAS Mutation.

The treatment of agminated Spitz nevi can be challenging due to the potential for disfigurement in cosmetically sensitive areas. We report the case of a pediatric patient with progressive agminated Spitz nevi arising from a nevus spilus  on the face with an associated pathogenic HRAS p.G13R mutation revealed on next-generation sequencing (NGS). The patient was treated with compounded topical trametinib 1% cream and demonstrated significant clinical improvement following 12 weeks of twice-daily treatment. Our case highlights the potential role of MEK inhibition as a targeted, non-surgical treatment for HRAS-mutated agminated Spitz nevi and adds to the growing understanding of their genetic etiology.

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来源期刊
Pediatric Dermatology
Pediatric Dermatology 医学-皮肤病学
CiteScore
3.20
自引率
6.70%
发文量
269
审稿时长
1 months
期刊介绍: Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.
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