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.
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