Epidermolytic Ichthyosis Sine Epidermolysis–A Case Report and Molecular Analysis

نویسندگان

چکیده

Epidermolytic ichthyosis (EI) is a rare genodermatosis disorder. We report 39-year-old woman with EI, who presented generalized erythroderma since birth, followed by hyperkeratosis later in life. The physical examination revealed without blistering or erosion. histopathological studies parakeratosis and psoriasiform hyperplasia, significant epidermolysis. Sanger sequencing missense mutation—c.467G>A (p.Arg156His)—in the KRT10 gene, confirming diagnosis of EI. genotype-phenotype correlations EI patients are multifactorial. Thus, molecular analysis can confirm cases an unclear medical history histological inconclusiveness.

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ژورنال

عنوان ژورنال: Journal of Health Science and Medical Research (JHSMR)

سال: 2022

ISSN: ['2630-0559']

DOI: https://doi.org/10.31584/jhsmr.2022914