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有色人种皮肤的格里斯塞利综合征:毛发镜视角

Griscelli Syndrome in Skin of Color: A Trichoscopic Perspective.

作者信息

Shah Swapnil D, Ankad Balachandra S, Smitha Sankappanavara V

机构信息

From the Department of Dermatology, Ashwini Rural Medical College, Solapur, Maharashtra, India.

Department of Dermatology, S. Nijalingappa Medical College, Bagalkot, Karnataka, India.

出版信息

Indian J Dermatol. 2023 Mar-Apr;68(2):192-194. doi: 10.4103/ijd.ijd_866_22.

Abstract

INTRODUCTION

Griscelli syndrome (GS) is a very rare autosomal recessive disorder, belongs to group of "silvery hair syndromes" which includes Chediak-Higashi syndrome (CHS) and Elejalde syndrome. Hair light microscopy helps in the differentiation of GS and CHS, as both manifest with clinical features. Trichoscopy is useful in the diagnosis of many hair shaft disorders. Here, authors describe the trichoscopic features of GS in skin of color.

MATERIALS AND METHODS

This was an observational study conducted in a private dermatology clinic and in a tertiary care hospital. A total of 5 cases of suspected GS were referred by pediatrician. Consent was obtained. The demographic data in terms of age, gender, consanguinity, and clinical history was documented. Trichoscopic examination was performed with FotoFinder videodermoscope with 20× magnification, the clinical images were captured with Medicam 1000. Trichoscopy showed large and irregular pigment clumps in 4 cases. One case demonstrated hypopigmentation of hair without pigment clumps [Figure 3a].

RESULTS

Trichoscopy showed large and irregular pigment clumps in 4 cases. One case demonstrated hypopigmentation of hair without pigment clumps.

CONCLUSION

Trichoscopy shows characteristic features GS. It is a useful method when facility for light or polarized microscope is unavailable.

摘要

引言

格里塞利综合征(GS)是一种非常罕见的常染色体隐性疾病,属于“银发综合征”组,其中包括切迪阿克 - 东综合征(CHS)和埃莱亚尔德综合征。毛发光学显微镜检查有助于鉴别GS和CHS,因为两者都有临床特征表现。毛发镜检对许多毛发干疾病的诊断有用。在此,作者描述了有色人种皮肤中GS的毛发镜特征。

材料与方法

这是一项在一家私立皮肤科诊所和一家三级护理医院进行的观察性研究。共有5例疑似GS的病例由儿科医生转诊。获得了知情同意。记录了年龄、性别、血缘关系和临床病史等人口统计学数据。使用放大倍数为20倍的FotoFinder视频皮肤镜进行毛发镜检查,用Medicam 1000拍摄临床图像。毛发镜检查显示4例有大的不规则色素团块。1例显示毛发色素减退但无色素团块[图3a]。

结果

毛发镜检查显示4例有大的不规则色素团块。1例显示毛发色素减退但无色素团块。

结论

毛发镜检查显示GS的特征性表现。当没有光学或偏振显微镜设备时,它是一种有用的方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7063/10238990/a4559fafc2fb/IJD-68-192-g001.jpg

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