A Rare Clinical Presentation of Darier’s Disease

Mybera Ferizi,Fisnik Kurshumliu,Antigona Begolli-Gerqari,Bostjan Luzar,Mergita Ferizi

doi:10.1155/2013/419797

Abstract

Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae.

Highlights

Darier’s disease or keratosis follicularis is a rare autosomal dominant genodermatosis, which is characterized by greasy, crusted, keratotic, yellow brown warty papules and plaques over seborrhoeic areas
The lesions are presented as suprabasal clefts in the epithelium, with acantholysis and dyskeratotic cells presented as “corps ronds” and “corps grains “Corps ronds” are larger structures usually presented in the granular layer and consist of irregular eccentric and sometimes pyknotic nuclei [7]
Absence of family history could be attributed to the fact that mild forms of the disease have not been recognized among the family members

Summary

Introduction

Darier’s disease or keratosis follicularis is a rare autosomal dominant genodermatosis, which is characterized by greasy, crusted, keratotic, yellow brown warty papules and plaques over seborrhoeic areas. This is a genetically transmitted disease according to a larger series, about 47% of patients had no clear family history, presumably because of incomplete penetrance [1]. In 1917, the first case with oral manifestation was reported by Reenstierna [2]. The oral mucosa is affected in 50% of the cases [4], and lesions are usually asymptomatic and discovered during routine dental examination [5, 6]. Associated anomalies have been described in the literature, including mental retardation and psychosis [6]

Case Report

Discussion

Findings

Conflict of Interests