Darier's disease, unusual comedonian variant. A case presentation

Abstract

Darier's disease is a rare autosomal dominant genodermatosis caused by the mutation of the ATP2A2 gene located on chromosome 12q23-24.1, which encodes ATPaseCA + 2 endoplasmic sarcoid reticulum (SERCA2). It is characterized in the classical form by crusty papulokeratotic lesions, mainly follicular pruritic, which predominate in seborrheic areas and affects the extremities with characteristic longitudinal striations. It is a chronic disease in which episodes of bacterial or viral overinfections are observed and exacerbated by the effects of heat, sun exposure, sweating and medications. Unusual atypical variants such as vesicoampollar, hypertrophic, hemorrhagic, dyschromic and comedonian are distinguished. The aim of the present work is to report a family case of the unusual Comedonian variant of Darier's Disease, of which there are few published cases.

The case is a 57-year-old male patient who consulted for presenting papules and hyperkeratotic plaques with comedones on the erythematous base in the frontal, malar, infraclavicular, sternal region, in the upper and lower extremities, and the sacral region, very itchy malodorous of more than 10 years of evolution, triggered by heat and humidity highlighting within a family background a sister with Darier's disease. A multiple treatments with local corticosteroid was given, without improvement. Skin biopsy was performed, which was fixed in 10% formalin, included in paraffin and colored with hematoxylin / eosin techniques. The histological sections showed prominent follicular involvement with dilated follicular infundibles containing keratin residues with parakeratosis, suprabasal acantholysis and dyskeratotic cells with round bodies, grains forming villi with papillary projections.

Darier's disease in its comedonian form is unusual and differs from the classical form by the prominent follicular involvement with formation of large comedones, both open and closed. Our contribution is the communication of a familiar case of this unusual variant.