Epidermolytic Ichthyosis without Keratin 1 or 10 Mutations: A Case Report

In this paper, the authors report a case of an 11-year-old boy with epidermolytic ichthyosis who presented with multiple scattered erosions and typical hyperkeratotic plaques over the face, upper and lower extremities, the trunk, palms and soles. Family history revealed an affected older male sibling and an affected first-degree female relative. In addition, there was a positive history of generations of consanguinity in the patient's family pedigree, increasing the probability of an autosomal recessive inheritance. The clinical diagnosis was confirmed by histopathology; however, mutations in the keratin 1 and 10 genes were absent. This case report addresses the importance of establishing correct diagnosis and mode of inheritance, with literature review of genetic mutations, possible differential diagnosis and the most common and successful treatment modalities for epidermolytic ichthyosis.