KRAS嵌合性中的色素胎记和脊髓神经纤维瘤-不要与NF1混淆。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-07-19 DOI:10.1111/pde.16018

Karina M Forde, Nicole Knöpfel, Ulrike Loebel, Veronica A Kinsler

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引用次数: 0

摘要

我们报告一个儿童提出色素皮肤病变和脊髓神经纤维瘤谁被诊断为分子与KRAS镶嵌。我们回顾了两例由KRAS变异引起的先天性皮肤病变、神经纤维瘤和脊神经根肥大的文献，并强调这种表现是神经纤维瘤病的重要鉴别诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism-Not to Be Confused With NF1.

We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential diagnosis for neurofibromatosis.

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来源期刊

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.