A Case of Annular Epidermolytic Ichthyosis Resulting from a de Novo Mutation, p.I479T, in Keratin 1 Gene

We report a case of annular epidermolytic ichthyosis (AEI) resulting from de novo keratin 1 gene mutation. AEI is a rare autosomal dominantly inherited cornification disorder and is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma. Blisters and erosions in AEI are wides...

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Detalles Bibliográficos
Autores principales: Chen, Lihong, Quan, Cheng, Zheng, Jie, Pan, Meng, Zhao, Xiaoqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208282/
https://www.ncbi.nlm.nih.gov/pubmed/34188299
http://dx.doi.org/10.4103/ijd.IJD_115_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8208282/
https://www.ncbi.nlm.nih.gov/pubmed/34188299
http://dx.doi.org/10.4103/ijd.IJD_115_20

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