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Case report of self-improving collodion ichthyosis in the newborn

Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth. A newborn girl, just 1 hour old, presented with taut, shiny, thick yellow crusts, like parchment, and s...

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Autores principales: Zhu, Suyue, Jiang, Yazhou, Shen, Nan, Yin, Hanjun, Qiao, Jibing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10585991/
https://www.ncbi.nlm.nih.gov/pubmed/37848341
http://dx.doi.org/10.1177/03000605231204491
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author Zhu, Suyue
Jiang, Yazhou
Shen, Nan
Yin, Hanjun
Qiao, Jibing
author_facet Zhu, Suyue
Jiang, Yazhou
Shen, Nan
Yin, Hanjun
Qiao, Jibing
author_sort Zhu, Suyue
collection PubMed
description Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth. A newborn girl, just 1 hour old, presented with taut, shiny, thick yellow crusts, like parchment, and scales on her trunk and upper limbs. The tightening effect had caused both upper eyelids to appear everted, and her lips and auricles were deformed. Based on whole-exome sequencing and examination of the clinical phenotype, the patient was diagnosed with ARCI. After admission, the exposed mucosa was covered with a sterile Vaseline gauze dressing, and she was placed in an incubator set to a temperature of 32°C with a humidity level of 75%. One week later, the parchment-like scales had begun to flake off, and at the age of 3 weeks, all bodily skin appeared normal. SICI was diagnosed. After discharge, the patient was followed up to 3 months of age, at which time her growth and development were comparable to those of her peers. Clinicians should consider SICI as a possible diagnosis when analyzing the prognosis of patients with CB. Reducing water loss and maintaining the electrolyte balance are particularly important for SICI treatment.
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spelling pubmed-105859912023-10-20 Case report of self-improving collodion ichthyosis in the newborn Zhu, Suyue Jiang, Yazhou Shen, Nan Yin, Hanjun Qiao, Jibing J Int Med Res Case Report and Case Series Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth. A newborn girl, just 1 hour old, presented with taut, shiny, thick yellow crusts, like parchment, and scales on her trunk and upper limbs. The tightening effect had caused both upper eyelids to appear everted, and her lips and auricles were deformed. Based on whole-exome sequencing and examination of the clinical phenotype, the patient was diagnosed with ARCI. After admission, the exposed mucosa was covered with a sterile Vaseline gauze dressing, and she was placed in an incubator set to a temperature of 32°C with a humidity level of 75%. One week later, the parchment-like scales had begun to flake off, and at the age of 3 weeks, all bodily skin appeared normal. SICI was diagnosed. After discharge, the patient was followed up to 3 months of age, at which time her growth and development were comparable to those of her peers. Clinicians should consider SICI as a possible diagnosis when analyzing the prognosis of patients with CB. Reducing water loss and maintaining the electrolyte balance are particularly important for SICI treatment. SAGE Publications 2023-10-17 /pmc/articles/PMC10585991/ /pubmed/37848341 http://dx.doi.org/10.1177/03000605231204491 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report and Case Series
Zhu, Suyue
Jiang, Yazhou
Shen, Nan
Yin, Hanjun
Qiao, Jibing
Case report of self-improving collodion ichthyosis in the newborn
title Case report of self-improving collodion ichthyosis in the newborn
title_full Case report of self-improving collodion ichthyosis in the newborn
title_fullStr Case report of self-improving collodion ichthyosis in the newborn
title_full_unstemmed Case report of self-improving collodion ichthyosis in the newborn
title_short Case report of self-improving collodion ichthyosis in the newborn
title_sort case report of self-improving collodion ichthyosis in the newborn
topic Case Report and Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10585991/
https://www.ncbi.nlm.nih.gov/pubmed/37848341
http://dx.doi.org/10.1177/03000605231204491
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