{"title":"新生儿银发：两个致命病例的故事。","authors":"Lakshmi Satish Kumar, Prashanth Ranya Raghavendra, Sruthi Nair, Muthu Vijaya Nathan D, Umair Ahmed Bargir, Anitha Haribalakrishna, Sunanda Arun Mahajan","doi":"10.1093/omcr/omae106","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":45318,"journal":{"name":"Oxford Medical Case Reports","volume":"2024 9","pages":"omae106"},"PeriodicalIF":0.5000,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11393566/pdf/","citationCount":"0","resultStr":"{\"title\":\"Silver hair in a neonate: a tale of 2 fatal cases.\",\"authors\":\"Lakshmi Satish Kumar, Prashanth Ranya Raghavendra, Sruthi Nair, Muthu Vijaya Nathan D, Umair Ahmed Bargir, Anitha Haribalakrishna, Sunanda Arun Mahajan\",\"doi\":\"10.1093/omcr/omae106\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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.</p>\",\"PeriodicalId\":45318,\"journal\":{\"name\":\"Oxford Medical Case Reports\",\"volume\":\"2024 9\",\"pages\":\"omae106\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2024-09-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11393566/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Oxford Medical Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/omcr/omae106\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/9/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oxford Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/omcr/omae106","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/9/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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.
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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