{"title":"3个月婴儿暂时性新生儿锌缺乏症1例。","authors":"Damy Horth, Isabelle Auger","doi":"10.1177/2050313X251341516","DOIUrl":null,"url":null,"abstract":"<p><p>Zinc deficiency can be inherited, such as in the case of acrodermatitis enteropathica or acquired. In both cases, patients will present typical acral and periorificial skin lesions, and seldom, diarrhea as well as secondary alopecia. In this report, we provide a case of transient neonatal zinc deficiency in a 3-month-old breastfed girl who presented with classical skin lesions of zinc deficiency. The diagnosis was determined following the results of blood tests, which indicated a combination of low plasma phosphatase alkaline and zinc levels. To support the diagnosis, genetic testing was performed on the mother to detect a mutation in the SLC30A2 gene. However, the results were inconclusive as a variant of unknown significance was found. After starting zinc supplementation, the skin lesions completely resolved a few weeks later without any recurrence.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"13 ","pages":"2050313X251341516"},"PeriodicalIF":0.6000,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12075959/pdf/","citationCount":"0","resultStr":"{\"title\":\"Transient neonatal zinc deficiency in a 3-month-old infant: A case report.\",\"authors\":\"Damy Horth, Isabelle Auger\",\"doi\":\"10.1177/2050313X251341516\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Zinc deficiency can be inherited, such as in the case of acrodermatitis enteropathica or acquired. In both cases, patients will present typical acral and periorificial skin lesions, and seldom, diarrhea as well as secondary alopecia. In this report, we provide a case of transient neonatal zinc deficiency in a 3-month-old breastfed girl who presented with classical skin lesions of zinc deficiency. The diagnosis was determined following the results of blood tests, which indicated a combination of low plasma phosphatase alkaline and zinc levels. To support the diagnosis, genetic testing was performed on the mother to detect a mutation in the SLC30A2 gene. However, the results were inconclusive as a variant of unknown significance was found. After starting zinc supplementation, the skin lesions completely resolved a few weeks later without any recurrence.</p>\",\"PeriodicalId\":21418,\"journal\":{\"name\":\"SAGE Open Medical Case Reports\",\"volume\":\"13 \",\"pages\":\"2050313X251341516\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2025-05-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12075959/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"SAGE Open Medical Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/2050313X251341516\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"SAGE Open Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/2050313X251341516","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Transient neonatal zinc deficiency in a 3-month-old infant: A case report.
Zinc deficiency can be inherited, such as in the case of acrodermatitis enteropathica or acquired. In both cases, patients will present typical acral and periorificial skin lesions, and seldom, diarrhea as well as secondary alopecia. In this report, we provide a case of transient neonatal zinc deficiency in a 3-month-old breastfed girl who presented with classical skin lesions of zinc deficiency. The diagnosis was determined following the results of blood tests, which indicated a combination of low plasma phosphatase alkaline and zinc levels. To support the diagnosis, genetic testing was performed on the mother to detect a mutation in the SLC30A2 gene. However, the results were inconclusive as a variant of unknown significance was found. After starting zinc supplementation, the skin lesions completely resolved a few weeks later without any recurrence.
期刊介绍：
SAGE Open Medical Case Reports (indexed in PubMed Central) is a peer reviewed, open access journal. It aims to provide a publication home for short case reports and case series, which often do not find a place in traditional primary research journals, but provide key insights into real medical cases that are essential for physicians, and may ultimately help to improve patient outcomes. SAGE Open Medical Case Reports does not limit content due to page budgets or thematic significance. Papers are subject to rigorous peer review and are selected on the basis of whether the research is sound and deserves publication. By virtue of not restricting papers to a narrow discipline, SAGE Open Medical Case Reports facilitates the discovery of the connections between papers, whether within or between disciplines. Case reports can span the full spectrum of medicine across the health sciences in the broadest sense, including: Allergy/Immunology Anaesthesia/Pain Cardiovascular Critical Care/ Emergency Medicine Dentistry Dermatology Diabetes/Endocrinology Epidemiology/Public Health Gastroenterology/Hepatology Geriatrics/Gerontology Haematology Infectious Diseases Mental Health/Psychiatry Nephrology Neurology Nursing Obstetrics/Gynaecology Oncology Ophthalmology Orthopaedics/Rehabilitation/Occupational Therapy Otolaryngology Palliative Medicine Pathology Pharmacoeconomics/health economics Pharmacoepidemiology/Drug safety Psychopharmacology Radiology Respiratory Medicine Rheumatology/ Clinical Immunology Sports Medicine Surgery Toxicology Urology Women''s Health.
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