{"title":"罕见先天性鱼鳞病合并羊膜带综合征的急诊治疗。","authors":"İlker Uyar, Sibel Burçak Sahin Uyar","doi":"10.14744/tjtes.2022.34663","DOIUrl":null,"url":null,"abstract":"<p><p>Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome involves congenital anomalies that most frequently cause hand and leg rings. The bands can wrap around the developing body parts. In this study, it is aimed to present an emergency approach to amniotic band syndrome accompanying a case of congenital ichthyosis. We were asked by the neonatal intensive care unit to consult on the case of a 1-day-old baby boy. On physical examination, congenital bands were found to be present on both hands, the toes were rudimentary, skin scaling was present on the entire body, and the consistency of the skin was stiff. The right testicle was not in the scrotum. Other system examinations were normal. However, the blood circulation in the fingers in the distal of the band had become critical. With the help of sedation, the bands on the fingers were excised, and after the procedure, it was observed that the circulation in the fingers was more relaxed than it had been before the procedure. Coexistence of congenital ichthyosis and amniotic band is very rare. Emergency approach to these patients is very important in terms of saving the limb and preventing growth retardation in the limb. As further developments take place in terms of prenatal diagnoses, these cases will be able to be prevented through the early diagnosis and treatment.</p>","PeriodicalId":49398,"journal":{"name":"Ulusal Travma Ve Acil Cerrahi Dergisi-Turkish Journal of Trauma & Emergency Surgery","volume":"29 5","pages":"638-640"},"PeriodicalIF":0.8000,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c7/db/TJTES-29-638.PMC10277331.pdf","citationCount":"0","resultStr":"{\"title\":\"Emergency approach in a rare congenital coexistence-ichthyosis and amniotic band syndrome.\",\"authors\":\"İlker Uyar, Sibel Burçak Sahin Uyar\",\"doi\":\"10.14744/tjtes.2022.34663\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome involves congenital anomalies that most frequently cause hand and leg rings. The bands can wrap around the developing body parts. In this study, it is aimed to present an emergency approach to amniotic band syndrome accompanying a case of congenital ichthyosis. We were asked by the neonatal intensive care unit to consult on the case of a 1-day-old baby boy. On physical examination, congenital bands were found to be present on both hands, the toes were rudimentary, skin scaling was present on the entire body, and the consistency of the skin was stiff. The right testicle was not in the scrotum. Other system examinations were normal. However, the blood circulation in the fingers in the distal of the band had become critical. With the help of sedation, the bands on the fingers were excised, and after the procedure, it was observed that the circulation in the fingers was more relaxed than it had been before the procedure. Coexistence of congenital ichthyosis and amniotic band is very rare. Emergency approach to these patients is very important in terms of saving the limb and preventing growth retardation in the limb. As further developments take place in terms of prenatal diagnoses, these cases will be able to be prevented through the early diagnosis and treatment.</p>\",\"PeriodicalId\":49398,\"journal\":{\"name\":\"Ulusal Travma Ve Acil Cerrahi Dergisi-Turkish Journal of Trauma & Emergency Surgery\",\"volume\":\"29 5\",\"pages\":\"638-640\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2023-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c7/db/TJTES-29-638.PMC10277331.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ulusal Travma Ve Acil Cerrahi Dergisi-Turkish Journal of Trauma & Emergency Surgery\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.14744/tjtes.2022.34663\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"EMERGENCY MEDICINE\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ulusal Travma Ve Acil Cerrahi Dergisi-Turkish Journal of Trauma & Emergency Surgery","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.14744/tjtes.2022.34663","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"EMERGENCY MEDICINE","Score":null,"Total":0}
Emergency approach in a rare congenital coexistence-ichthyosis and amniotic band syndrome.
Ichthyosis is caused by Mendelian cornification disorders. Hereditary ichthyoses are divided into non-syndromic and syndromic ichthy-oses. Amniotic band syndrome involves congenital anomalies that most frequently cause hand and leg rings. The bands can wrap around the developing body parts. In this study, it is aimed to present an emergency approach to amniotic band syndrome accompanying a case of congenital ichthyosis. We were asked by the neonatal intensive care unit to consult on the case of a 1-day-old baby boy. On physical examination, congenital bands were found to be present on both hands, the toes were rudimentary, skin scaling was present on the entire body, and the consistency of the skin was stiff. The right testicle was not in the scrotum. Other system examinations were normal. However, the blood circulation in the fingers in the distal of the band had become critical. With the help of sedation, the bands on the fingers were excised, and after the procedure, it was observed that the circulation in the fingers was more relaxed than it had been before the procedure. Coexistence of congenital ichthyosis and amniotic band is very rare. Emergency approach to these patients is very important in terms of saving the limb and preventing growth retardation in the limb. As further developments take place in terms of prenatal diagnoses, these cases will be able to be prevented through the early diagnosis and treatment.
期刊介绍:
The Turkish Journal of Trauma and Emergency Surgery (TJTES) is an official publication of the Turkish Association of Trauma and Emergency Surgery. It is a double-blind and peer-reviewed periodical that considers for publication clinical and experimental studies, case reports, technical contributions, and letters to the editor. Scope of the journal covers the trauma and emergency surgery.
Each submission will be reviewed by at least two external, independent peer reviewers who are experts in their fields in order to ensure an unbiased evaluation process. The editorial board will invite an external and independent reviewer to manage the evaluation processes of manuscripts submitted by editors or by the editorial board members of the journal. The Editor in Chief is the final authority in the decision-making process for all submissions.