Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex Dupré...

Erythrokeratodermia represents a group of rare genetic diseases characterized through disorders of keratinization. Clinically, they are presenting themselves with erythematous and hyperkeratosic lesions that can be persistent or variable as to their aspect and localization. They were classified in erythrokeratodermia variabilis (EKV) and erythrokeratodermia symmetric progressive (EKSP). We are presenting the case of a 9-years-old child which presents from birth facial and perioral erythema; erythematous and hyperkeratosic lesions with circinate character, extremely variable, localized especially on the anterior thorax (on the chest and in the axillar and inguinal folds). The neonatal debut, the clinical and histological aspect are suggestive elements for the EKV. In addition, the child has a plan frontal angioma and a congenital horizontal nistagmus. We realized a review of a literature data being different clinical variants of presentation of EKV and the eventual possible associations. It is considered the fact that the clinical presentation in the presented case corresponds to the variant of EKV with variable circinate erythema described by Bazex and Dupré. The case is also particular through the association of a plan frontal angioma, particularly of a congenital horizontal nistagmus, associations that we could not find in the literature.