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新生儿白发:两例致命病例的故事。

Silver hair in a neonate: a tale of 2 fatal cases.

作者信息

Kumar Lakshmi Satish, Raghavendra Prashanth Ranya, Nair Sruthi, Vijaya Nathan D Muthu, Bargir Umair Ahmed, Haribalakrishna Anitha, Mahajan Sunanda Arun

机构信息

Department of Neonatology, Seth G.S. Medical College and King Edward Memorial Hospital, Acharya Donde Marg, Parel, Mumbai 400012, India.

Department of Pediatric Immunology and Leukocyte Biology, ICMR-National Institute of Immunohaematology, Seth G.S. Medical College and King Edward Memorial Hospital, Acharya Donde Marg, Mumbai, Maharashtra 400012, India.

出版信息

Oxf Med Case Reports. 2024 Sep 12;2024(9):omae106. doi: 10.1093/omcr/omae106. eCollection 2024 Sep.

Abstract

Silver hair in a neonate is an uncommon occurrence. The aetiology of this condition is varied and is associated with immunodeficiency disorders such as Griscelli syndrome and Chédiak-Higashi syndrome. A preterm neonate with Griscelli syndrome type 2 might present with just silver colour staining of hair including the lanugo hair with no other complications. In those with associated systemic abnormalities such as congenital pulmonary airway malformation, further evaluation for conditions such as Menke-Kinke hair syndrome is required. In this case series, we describe two unique cases of silver hair syndrome in preterm neonates with their clinical description, course in the hospital, role of hair mount and genetic testing for further identification and diagnosis of this disorder.

摘要

新生儿出现银发是一种罕见的情况。这种病症的病因多种多样,且与免疫缺陷疾病相关,如格里塞利综合征和切迪阿克-东综合征。一名患有2型格里塞利综合征的早产儿可能仅表现为头发包括胎毛呈银色染色,而无其他并发症。对于那些伴有先天性肺气道畸形等相关系统性异常的患儿,则需要进一步评估是否患有门克斯-金克毛发综合征等病症。在本病例系列中,我们描述了两例早产儿银发综合征的独特病例,包括其临床描述、在医院的病程、毛发标本的作用以及用于该疾病进一步鉴定和诊断的基因检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0683/11393566/7fad25d77f1a/omae106f1.jpg

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