Pradipprava Paria, P. Mondal, Sibnath Gayen, G. Ch, R. Das
{"title":"小丑型鱼鳞病1例报道","authors":"Pradipprava Paria, P. Mondal, Sibnath Gayen, G. Ch, R. Das","doi":"10.5958/2319-5886.2016.00022.9","DOIUrl":null,"url":null,"abstract":"Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1: 300, 000). The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function of skin. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long. We report here a case of a newborn with harlequin ichthyosis of consanguineous parentage who had a history of similar birth previously.","PeriodicalId":51699,"journal":{"name":"International Journal of Medical Research & Health Sciences","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"HARLEQUIN ICTHYOSIS: A RARE CASE REPORT\",\"authors\":\"Pradipprava Paria, P. Mondal, Sibnath Gayen, G. Ch, R. Das\",\"doi\":\"10.5958/2319-5886.2016.00022.9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1: 300, 000). The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function of skin. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long. We report here a case of a newborn with harlequin ichthyosis of consanguineous parentage who had a history of similar birth previously.\",\"PeriodicalId\":51699,\"journal\":{\"name\":\"International Journal of Medical Research & Health Sciences\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Medical Research & Health Sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5958/2319-5886.2016.00022.9\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Medical Research & Health Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5958/2319-5886.2016.00022.9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1: 300, 000). The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function of skin. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long. We report here a case of a newborn with harlequin ichthyosis of consanguineous parentage who had a history of similar birth previously.
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