Epidermolytic Hyperkeratosis with Disposition in Mosaic of Blaschkoide Type in a Boy

Abstract

Epidermolytic hyperkeratosis is a genodermatosis of low prevalence belonging to the ichthyosis group. Few cases appear in the literature. Skin lesions are usually generalized. Blisters predominate at birth and later become verrucous hyperkeratotic formations. This condition remains uncommon with cutaneous mosaicism. However, dermal marks may show a blaschkoid pattern. This work aims to present a case of epidermolytic hyperkeratosis with blaschkoid mosaic. We describe the clinical history of a two-year-old male patient who attended the specialized genodermatosis clinic at the Mártires de Las Tunas Provincial Pediatric Teaching Hospital. The child presented cutaneous signs characterized by erythema, blisters, and erosions with a linear alignment affecting the left hemibody. Months later, the marks evolved into hyperpigmentation and hyperkeratosis, complicated by frequent secondary pyodermatitis. Differential diagnosis included incontinentia pigmenti, inflammatory linear verrucous epidermal nevus, and linear nevoid swirling hypermelanosis. Skin biopsy provided the definitive diagnosis. Keratolytics improved the manifestations. Histopathological analysis proved essential for the definitive diagnosis due to the rarity of epidermolytic hyperkeratosis and the diagnostic challenge posed by its blaschkoid linear mosaic presentation.