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研究1型神经纤维瘤病患者的人口统计学和临床特征:对维生素D水平以及与贫血痣和神经纤维瘤关联的见解。

Examining Demographic and Clinical Traits in Neurofibromatosis Type 1 Patients: Insights into Vitamin D Levels and Connections with Nevus Anemicus and Neurofibromas.

作者信息

Ahmadi Vahid, Karimi Nazli, Evans Arsoy S, Karaduman Ayşen

机构信息

From the Department of Dermatology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

Department of Physiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.

出版信息

Indian J Dermatol. 2025 Jan-Feb;70(1):11-17. doi: 10.4103/ijd.ijd_141_24. Epub 2024 Dec 30.

Abstract

AIM

This article aims to examine the demographic and clinical traits of neurofibromatosis type 1 (NF1) patients, particularly focusing on the potential links between vitamin D levels, BMI, and dermatological features.

METHODS

A retrospective review of medical records involving 128 patients diagnosed with neurofibromatosis type 1 (NF1) over a 3-year-period was conducted. The analysis emphasized investigating the demographic and clinical characteristics of the patients while evaluating key parameters.

RESULT

Nevus anemicus was present in 32.8% of NF1 patients, and a significant association was found between nevus anemicus and low vitamin D levels ( = 0.001). We also observed a notable correlation between low vitamin D levels and an increased likelihood of neurofibromas ( < 0.001). Additionally, there appears to be an inverse relationship between serum vitamin D levels and the number of neurofibromas.

CONCLUSION

Our study suggests a correlation between lower vitamin D levels and key dermatological characteristics in neurofibromatosis type 1 (NF1) individuals. Specifically, we observed associations with nevus anemicus prevalence and increased neurofibromas. This observation enriches NF1's understanding, offering practical implications for patient management by emphasizing the importance of monitoring and addressing vitamin D levels.

摘要

目的

本文旨在研究1型神经纤维瘤病(NF1)患者的人口统计学和临床特征,尤其关注维生素D水平、体重指数(BMI)与皮肤特征之间的潜在联系。

方法

对128例在3年期间被诊断为1型神经纤维瘤病(NF1)的患者的病历进行回顾性分析。分析重点是调查患者的人口统计学和临床特征,同时评估关键参数。

结果

32.8%的NF1患者存在贫血痣,且贫血痣与低维生素D水平之间存在显著关联(P = 0.001)。我们还观察到低维生素D水平与神经纤维瘤发生可能性增加之间存在显著相关性(P < 0.001)。此外,血清维生素D水平与神经纤维瘤数量之间似乎存在负相关关系。

结论

我们的研究表明,1型神经纤维瘤病(NF1)患者的低维生素D水平与关键皮肤特征之间存在相关性。具体而言,我们观察到与贫血痣患病率和神经纤维瘤增多有关。这一观察结果丰富了对NF1的认识,通过强调监测和处理维生素D水平的重要性,为患者管理提供了实际意义。

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