银灰色头发：诊断免疫缺陷的线索。
Silvery grey hair: clue to diagnose immunodeficiency.
作者信息
Sahana Ms, Sacchidanand S, Hiremagalore R, Asha Gs
机构信息
Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India.
出版信息
Int J Trichology. 2012 Apr;4(2):83-5. doi: 10.4103/0974-7753.96910.
Abstract
Silvery hair is a common presentation of rare group of autosomal recessive disorders called Silvery hair syndromes including Griscelli syndrome (GS), Chediak-Higashi syndrome, and Elejalde syndrome. GS is characterized by a silvery grey sheen to hair, large clumped melanosomes in hair shaft, partial albinism, and variable cellular immunodeficiency. We report two cases of GS with classical clinical features and confirmatory findings by microscopic skin and hair examination.
摘要
银发是一组罕见的常染色体隐性疾病（称为银发综合征）的常见表现，包括格里塞利综合征（GS）、切迪阿克-希加希综合征和埃莱亚尔德综合征。GS的特征是头发有银灰色光泽、毛干中有大的聚集黑素小体、部分白化病以及可变的细胞免疫缺陷。我们报告了两例具有典型临床特征且经皮肤和毛发显微镜检查有确诊结果的GS病例。
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