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 girlwho 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.

Familiar palmoplantar keratoderma, flaccid blisters, and widespread scaling

“…Palmoplantar keratoderma may occur as the aforementioned features gradually give place to hyperkeratotic plaques and hyperkeratosis becomes more evident. 1 , 2 Ichthyosis bullosa of Siemens – Incorrect. Ichthyosis bullosa of Siemens results from a keratin 2e defect.…”

“…Furthermore, EI can occur with or without palmoplantar keratoderma, a finding mostly associated with keratin 1 mutations. 1 , 2 …”

“…Nevertheless, this clinical feature fades over the years. 1 , 2 The number of flaccid blisters increases and they become the primary clinical feature of the disease – Incorrect. What happens is exactly the opposite, because the blisters and the erythema improve, and hyperkeratosis becomes the main characteristic of the disease.…”

“…Nevertheless, because blisters are frequently observed as soon as the patient is born, it is important to exclude other generalized neonatal blistering disorders before diagnosing EI. 1 , 2 The hyperkeratotic plaques degenerate into skin cancer – Incorrect. There is no clear association between EI and cancer.…”

“…A complete involvement of the body may occur; however, the face is often less affected. 1 , 2 , 5 The life expectancy of the patient decreases, as EI has no treatment and no cure – Incorrect. Despite being an incurable disease, EI has several therapeutic options, such as keratolytics, emollients, topical vitamin D derivatives, and retinoids.…”