Epidermolytic Hyperkeratosis--case report

Abstract

Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girl who presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.

Figure 1

Verrucous and hyperchromic plaques in axillary regions

Figure 4

Verrucous and hyperchromic plaques involving buttocks and posterior region of thighs following Blaschko lines

Figure 5

A. HE 100x Epidermis with hyperkeratosis, papillomatosis, hypergranulosis and vacuolated keratinocytes in upper third of epithelium B. HE 400x Keratohyalin granules in vacuolated keratinocytes in upper third of epidermis

Figure 2

Detail of left axilla affected by verrucous plaques that follow Blaschko lines

Figure 3

Verrucous plaques grouped on left elbow