A Rare Clinical Presentation of Darier’s Disease

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. 1. 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 particularly over seborrhoeic areas. Although 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]. The disease is caused by mutations in the ATP 2A gene, which encodes the sarcoendoplasmic reticulum Ca2+ ATPase [1]. This disease was first describe by Prince Marrow in 1886 and simultaneously by Darrier and White in 1889, independently. In 1917, the first case with oral manifestation was reported by Reenstierna [2]. The prevalence of this disorder in population is 1？:？100,000. The sex incidence is equal, although the males appear to be more severely affected than females [2–4]. The oral mucosa is affected in 50% of the cases [4], and lesions are usually asymptomatic and discovered during routine dental examination [5, 6]. Lesions are represented by multiple firm papules with normal, whitish, or reddish color, primarily affecting the palatal and alveolar mucosa. Histologically, 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]. Precipitating factors include heat and humidity, mechanical trauma like friction, sunlight, and secondary bacterial infections [8]. Associated anomalies