Indian Journal of Dermatology
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E-IJD® - CASE REPORT
Year : 2021  |  Volume : 66  |  Issue : 2  |  Page : 224

A case of annular epidermolytic ichthyosis resulting from a de novo mutation, p.I479T, in Keratin 1 Gene


Department of Dermatology, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

Correspondence Address:
Xiaoqing Zhao
Department of Dermatology, Ruijin Hospital, No. 197, Rui Jin Er Road, Huangpu District, 200025, Shanghai
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijd.IJD_115_20

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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 widespread; hence, initially, it is sometimes mistaken with epidermolysis bullosa, acrodermatitis enteropathica, and staphylococcal scalded skin syndrome. Genetic tests including next-generation sequencing and Sanger sequencing are essential for AEI diagnosis. AEI is treated symptomatically by wound dressing, prevention of infection, and the use of emollients, humectants, and keratolytic products; topical or systemic retinoids may also prove helpful.


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