Epidermolytic Ichthyosis Sine Epidermolysis–A Case Report and Molecular Analysis

Abstract

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

Keywords

• bullous congenital ichthyosiform erythroderma
• epidermolytic hyperkeratosis
• epidermolytic ichthyosis
• krt10
• p.arg156his