Darier's Disease: A Clinical Rarity

Abstract

ABSTRACT Darier's disease (DD) is a rare autosomal dominant genodermatosis clinically manifested by greasy hyperkeratotic papules primarily affecting seborrheic areas with less frequent involvement of the oral mucosa. Oral manifestations, if present, are usually asymptomatic, and are discovered in routine dental examination. Acantholysis and dyskeratosis represented by corps ronds and corps grains are the typical histological findings. We report a case with clinical signs of DD in the palatal mucosa and skin. Skin biopsy and analysis of clinical history helped to diagnose DD. We report this case because of its clinical rarity as the prevalence of the disease has been estimated at 1/50,000-1,00,000. This could be a case of sporadic mutation as there was no family history. This case emphasizes the importance of oral examination among dermatologists, clinicians and pathologists to clinch the diagnosis of DD as it has a wide range of clinical presentations, therefore going undiagnosed for many years.