{"title":"新生儿自我改善性胶凝儿1例报告及文献复习。","authors":"Yanping Guo, Zhihao Xiao, Xiaoyan Hu, Ying Liu, Guobing Chen","doi":"10.1097/MD.0000000000042045","DOIUrl":null,"url":null,"abstract":"<p><strong>Rationale: </strong>Self-improving collodion baby (SICB) is a rare subtype of autosomal recessive congenital ichthyosis with distinct clinical features and generally favorable prognosis. This study aims to enhance understanding of SICB by examining its clinical characteristics and recent developments in diagnosis and management. Our findings provide insights that may aid in the etiological diagnosis and treatment of congenital ichthyosis.</p><p><strong>Patient concerns: </strong>We present a case of SICB treated at Peking University Shenzhen Hospital, characterized by the appearance of a collodion membrane at birth. The primary approach involved intensive moisturizing care to manage skin abnormalities.</p><p><strong>Diagnoses: </strong>Based on clinical examination and genetic testing, a diagnosis of SICB was confirmed, with mutations identified in genes commonly associated with autosomal recessive congenital ichthyosis, such as ALOX12B, TGM1, ALOXE3, CYP4F22, and PNPLA1.</p><p><strong>Outcomes: </strong>The patient showed significant improvement following targeted supportive care, consistent with the generally positive prognosis for SICB.</p><p><strong>Lessons: </strong>A comprehensive literature review of 31 SICB cases from 18 studies highlighted that the condition typically presents at birth with a collodion membrane. Intensive moisturizing is the main treatment, and early genetic testing is recommended to facilitate timely diagnosis and intervention. Early diagnosis can support effective genetic counseling and improve outcomes for newborns with ichthyosis.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 14","pages":"e42045"},"PeriodicalIF":1.3000,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A case report and literature review of self-improving collodion baby in the newborn.\",\"authors\":\"Yanping Guo, Zhihao Xiao, Xiaoyan Hu, Ying Liu, Guobing Chen\",\"doi\":\"10.1097/MD.0000000000042045\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Rationale: </strong>Self-improving collodion baby (SICB) is a rare subtype of autosomal recessive congenital ichthyosis with distinct clinical features and generally favorable prognosis. This study aims to enhance understanding of SICB by examining its clinical characteristics and recent developments in diagnosis and management. Our findings provide insights that may aid in the etiological diagnosis and treatment of congenital ichthyosis.</p><p><strong>Patient concerns: </strong>We present a case of SICB treated at Peking University Shenzhen Hospital, characterized by the appearance of a collodion membrane at birth. The primary approach involved intensive moisturizing care to manage skin abnormalities.</p><p><strong>Diagnoses: </strong>Based on clinical examination and genetic testing, a diagnosis of SICB was confirmed, with mutations identified in genes commonly associated with autosomal recessive congenital ichthyosis, such as ALOX12B, TGM1, ALOXE3, CYP4F22, and PNPLA1.</p><p><strong>Outcomes: </strong>The patient showed significant improvement following targeted supportive care, consistent with the generally positive prognosis for SICB.</p><p><strong>Lessons: </strong>A comprehensive literature review of 31 SICB cases from 18 studies highlighted that the condition typically presents at birth with a collodion membrane. Intensive moisturizing is the main treatment, and early genetic testing is recommended to facilitate timely diagnosis and intervention. Early diagnosis can support effective genetic counseling and improve outcomes for newborns with ichthyosis.</p>\",\"PeriodicalId\":18549,\"journal\":{\"name\":\"Medicine\",\"volume\":\"104 14\",\"pages\":\"e42045\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2025-04-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MD.0000000000042045\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MD.0000000000042045","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
A case report and literature review of self-improving collodion baby in the newborn.
Rationale: Self-improving collodion baby (SICB) is a rare subtype of autosomal recessive congenital ichthyosis with distinct clinical features and generally favorable prognosis. This study aims to enhance understanding of SICB by examining its clinical characteristics and recent developments in diagnosis and management. Our findings provide insights that may aid in the etiological diagnosis and treatment of congenital ichthyosis.
Patient concerns: We present a case of SICB treated at Peking University Shenzhen Hospital, characterized by the appearance of a collodion membrane at birth. The primary approach involved intensive moisturizing care to manage skin abnormalities.
Diagnoses: Based on clinical examination and genetic testing, a diagnosis of SICB was confirmed, with mutations identified in genes commonly associated with autosomal recessive congenital ichthyosis, such as ALOX12B, TGM1, ALOXE3, CYP4F22, and PNPLA1.
Outcomes: The patient showed significant improvement following targeted supportive care, consistent with the generally positive prognosis for SICB.
Lessons: A comprehensive literature review of 31 SICB cases from 18 studies highlighted that the condition typically presents at birth with a collodion membrane. Intensive moisturizing is the main treatment, and early genetic testing is recommended to facilitate timely diagnosis and intervention. Early diagnosis can support effective genetic counseling and improve outcomes for newborns with ichthyosis.
期刊介绍:
Medicine is now a fully open access journal, providing authors with a distinctive new service offering continuous publication of original research across a broad spectrum of medical scientific disciplines and sub-specialties.
As an open access title, Medicine will continue to provide authors with an established, trusted platform for the publication of their work. To ensure the ongoing quality of Medicine’s content, the peer-review process will only accept content that is scientifically, technically and ethically sound, and in compliance with standard reporting guidelines.