Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy.
Department of Pathology, Cytogenetic and Medical Genetics Unit, ASST Spedali Civili, 25123 Brescia, Italy.
Medicina (Kaunas). 2019 Mar 25;55(3):78. doi: 10.3390/medicina55030078.
The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediak⁻Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. In this manuscript, we describe in detail the clinical, trichoscopic, and genetic features of a rare case of Griscelli syndrome; moreover, we provide an overview of all the GHSs known to date. Our report highlights how an accurate clinical examination with noninvasive methods, like trichoscopy, may play a crucial rule in diagnosis of rare and potentially lethal genetic syndromes such as Griscelli syndrome, in which timely diagnosis and therapy may modify the clinical course, quality of life, and likelihood of survival.
先天性色素减退性疾病是一组广泛的异质性遗传性疾病，临床上以虹膜、毛发和/或皮肤的先天性色素缺陷为特征。它们包括 Gray 头发综合征（GHS），这是一组罕见的常染色体隐性遗传皮肤病，以先天性银灰色头发为特征。GHS 包括 Griscelli、Chediak-Higashi、Elejalde 和 Cross 综合征，它们均具有广泛的严重多系统疾病，包括神经、眼部、骨骼和免疫系统损伤。在本文中，我们详细描述了一例罕见的 Griscelli 综合征的临床、毛发镜和遗传特征；此外，我们还概述了迄今为止已知的所有 GHS。我们的报告强调了准确的临床检查（包括非侵入性的毛发镜检查）如何在诊断罕见的、潜在致命的遗传综合征（如 Griscelli 综合征）中发挥关键作用，及时诊断和治疗可能改变疾病的进程、生活质量和生存几率。
