Darier disease: A rare genodermatosis

Abstract

Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity. It is caused by mutations of ATP2A2 gene which encodes the sarco/endoplasmic reticulum Ca²⁺ ATPase isoform 2. It is clinically manifested by hyperkeratotic papules primarily affecting seborrheic areas on the head, neck and thorax, with less frequent involvement of the oral mucosa. When oral manifestations are present, they primarily affect the palatal and alveolar mucosa, are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions show suprabasal clefts with acantholytic and dyskeratotic cells. We present a case of 35-year-old female patient with typical clinical and histological features of DD.

Keywords: Autosomal dominant; Darier disease; keratosis follicularis.

Figure 1

Presence of warty plaques on forehead and anterior scalp area

Figure 2

Hyperkeratotic papules and plaques on preauricular areas, external ear and neck

Figure 3

Hyperkeratotic plaques on dorsal surface of the hands

Figure 4

Hyperkeratotic plaques and papules on dorsal surface of legs

Figure 5

Hyperkeratosis on soles

Figure 6

V-shaped notching seen on the right middle finger with longitudinal bands on nails

Figure 7

Photomicrograph showing hyperkeratosis, keratin plugging along with suprabasilar split (H & E stain, ×100 magnification)

Figure 8

Photomicrograph showing dyskeratotic cells, i.e., corps ronds (round bodies) or grains (H & E stain, ×400 magnification)

Figure 9

Photomicrograph showing dyskeratotic cells (H & E stain, ×400 magnification)