Darier Disease (Keratosis Follicularis)

Synonyms

Darier-White disease; Dyskeratosis follicularis

Definition

Keratosis follicularis is a genodermatosis characterized by abnormal keratinization of the epidermis, nails, and mucous membranes.

Etiology

Keratosis follicularis is an autosomal dominant disorder caused by mutations in the ATP2A2 gene, which encodes the Ca²⁺ ATPase 2 isoform. This defect results in disturbed cell-to-cell adhesion and differentiation of the epidermis (Ringpfeil et al. 2001).

Clinical Presentation

Clinical features consist of disseminated warty papules and plaques with an affinity for the seborrheic areas of the body including the face, scalp, and upper trunk (Sehgal and Srivastava 2005).

Ocular involvement in keratosis follicularis is relatively uncommon. Eyelid manifestations parallel cutaneous findings and are characterized by warty hyperkeratotic plaques with accumulation of seborrhea-like debris at the eyelid margin. Most of the affected patients have dry eye syndrome with and without Sjögren’s...