Unknown

Dataset Information

0

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


ABSTRACT: 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.

SUBMITTER: Chen L 

PROVIDER: S-EPMC8208282 | biostudies-literature |

REPOSITORIES: biostudies-literature

Similar Datasets

| S-EPMC7903949 | biostudies-literature
| S-EPMC8886511 | biostudies-literature
| S-EPMC9576078 | biostudies-literature
| S-EPMC7116359 | biostudies-literature
| S-EPMC5489912 | biostudies-literature
| S-EPMC7667337 | biostudies-literature
| S-EPMC6550964 | biostudies-literature
| S-EPMC9317500 | biostudies-literature
| S-EPMC1377790 | biostudies-other
| S-EPMC5352138 | biostudies-literature