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3型格里塞利综合征:两例新病例及文献综述

Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.

作者信息

Nouriel Ariella, Zisquit Jonah, Helfand Alexander M, Anikster Yair, Greenberger Shoshana

机构信息

Department of Dermatology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

出版信息

Pediatr Dermatol. 2015 Nov-Dec;32(6):e245-8. doi: 10.1111/pde.12663. Epub 2015 Sep 4.

DOI:10.1111/pde.12663
PMID:26337734
Abstract

A 3-year-old Arab boy with a history of hypoplastic left heart syndrome was referred to the pediatric dermatology clinic at Sheba Medical Center for evaluation of hypomelanosis, manifested by fair skin pigmentation and silvery-grey hair, eyebrows, and eyelashes. The child had one older brother with similar hypopigmentation and another older brother who had died of congenital heart disease. The child had no history of neurologic deficits or immunodeficiency and no additional findings on clinical evaluation.

摘要

一名3岁的阿拉伯男孩,有左心发育不全综合征病史,因色素减退前来舍巴医疗中心儿科皮肤科门诊评估,表现为皮肤色素浅淡,头发、眉毛和睫毛呈银灰色。该患儿有一个哥哥有类似色素减退情况,另一个哥哥死于先天性心脏病。该患儿无神经功能缺损或免疫缺陷病史,临床评估也无其他异常发现。

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Griscelli syndrome type 1: a novel pathogenic variant, and review of literature.1型格里塞利综合征:一种新型致病变体及文献综述
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Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia-An Uncommon Association of a Rare Entity.
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[Oculocutaneous and ocular albinism].[眼皮肤白化病和眼白化病]
Hautarzt. 2017 Nov;68(11):867-875. doi: 10.1007/s00105-017-4061-x.
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[Differential diagnostics of hypomelanoses].[色素减退症的鉴别诊断]
Hautarzt. 2015 Dec;66(12):945-58; quiz 959-60. doi: 10.1007/s00105-015-3717-7.