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光学显微镜和偏振显微镜:诊断白发综合征的一种皮肤科工具。

Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.

作者信息

Chandravathi P L, Karani Hetal Deepak, Siddaiahgari Sirisha Rani, Lingappa Lokesh

机构信息

Department of Dermatology, Care Hospital, Hyderabad, Telangana, India.

Department of Pediatrics, Division of Pediatric Hematology/Oncology, Rainbow Children's Tertiary Care Centre, Hyderabad, Telangana, India.

出版信息

Int J Trichology. 2017 Jan-Mar;9(1):38-41. doi: 10.4103/ijt.ijt_21_16.

Abstract

Gray hair syndromes are rare syndromes which have an autosomal recessive inheritance and are characterized by pigmentary dilution of skin and hair, defects in immunological function, and nervous system defects. They comprise three disorders namely Chediak-Higashi syndrome (CHS), Griscelli syndrome (GPS), and Elejalde syndrome. Clinically, it is difficult to distinguish these disorders as their clinical features may overlap. Hence, to make a correct diagnosis and differentiate between CHS and GPS light microscopic examination of skin and hair shafts as well as peripheral blood smear evaluations should be done. In cases where the diagnosis is not possible chromosomal analysis for specific mutations can be done. In resource-poor settings where chromosomal analysis is not possible, and light microscopy findings are inconclusive, polarized microscopy can serve as a useful tool to distinguish between CHS and GPS. We report three cases with gray hair syndromes where the diagnosis on light microscopy and polarized microscopy of hair shaft correlated with the bone marrow examination findings and chromosomal analysis, thus emphasizing the importance of a noninvasive, cost-effective, and time-saving alternative in the diagnosis of these syndromes.

摘要

白发综合征是一类罕见的综合征,具有常染色体隐性遗传特征,其特点为皮肤和毛发色素减退、免疫功能缺陷以及神经系统缺陷。它们包括三种疾病,即切迪阿克 - 希格ashi综合征(CHS)、格里塞利综合征(GPS)和埃莱亚尔德综合征。临床上,由于这些疾病的临床特征可能重叠,因此难以区分。因此,为了做出正确诊断并区分CHS和GPS,应进行皮肤和毛干的光镜检查以及外周血涂片评估。在无法进行诊断的情况下,可以进行特定突变的染色体分析。在无法进行染色体分析且光镜检查结果不明确的资源匮乏地区,偏振显微镜可作为区分CHS和GPS的有用工具。我们报告了三例白发综合征病例,其中毛干的光镜和偏振显微镜诊断与骨髓检查结果和染色体分析相关,从而强调了一种无创、经济高效且节省时间的替代方法在这些综合征诊断中的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cad/5514796/4519f6e03e57/IJT-9-38-g001.jpg

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