Indian Journal of Dermatology
E-IJDŽ - 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


Lihong Chen, Cheng Quan, Jie Zheng, Meng Pan, Xiaoqing Zhao 
 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

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.


How to cite this article:
Chen L, Quan C, Zheng J, Pan M, Zhao X. A case of annular epidermolytic ichthyosis resulting from a de novo mutation, p.I479T, in Keratin 1 Gene.Indian J Dermatol 2021;66:224-224


How to cite this URL:
Chen L, Quan C, Zheng J, Pan M, Zhao X. A case of annular epidermolytic ichthyosis resulting from a de novo mutation, p.I479T, in Keratin 1 Gene. Indian J Dermatol [serial online] 2021 [cited 2021 Nov 28 ];66:224-224
Available from: https://www.e-ijd.org/article.asp?issn=0019-5154;year=2021;volume=66;issue=2;spage=224;epage=224;aulast=Chen;type=0