新生儿银发:两个致命病例的故事。

IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Oxford Medical Case Reports Pub Date : 2024-09-12 eCollection Date: 2024-09-01 DOI:10.1093/omcr/omae106
Lakshmi Satish Kumar, Prashanth Ranya Raghavendra, Sruthi Nair, Muthu Vijaya Nathan D, Umair Ahmed Bargir, Anitha Haribalakrishna, Sunanda Arun Mahajan
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引用次数: 0

摘要

新生儿出现银发并不常见。这种情况的病因多种多样,与免疫缺陷疾病(如格里斯切利综合征和 Chédiak-Higashi 综合征)有关。患有格里斯切利综合征 2 型的早产新生儿可能仅表现为头发银色染色,包括羊角风,而无其他并发症。如果伴有先天性肺气道畸形等全身异常,则需要进一步评估是否患有门克-金克毛发综合征等疾病。在本病例系列中,我们描述了两例早产新生儿银发综合征的独特病例,包括其临床描述、住院过程、毛发安装的作用以及进一步鉴定和诊断该疾病的基因检测。
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Silver hair in a neonate: a tale of 2 fatal cases.

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.

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来源期刊
Oxford Medical Case Reports
Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-
CiteScore
0.90
自引率
0.00%
发文量
125
审稿时长
19 weeks
期刊介绍: Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.
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