ICD-9: 701.1 ○ ICD-10: L 87
A rare autosomal-dominant inherited disease with late onset.
Multiple discrete scaling, crusted, and pruritic papules mainly in seborrheic and flexural areas.
Malodorous and disfiguring, also involving nails and mucous membranes.
Itching and/or painful.
Histologically characterized by suprabasal acantholysis and dyskeratosis.
Caused by loss-of-function mutation in the ATP2A2 gene.
Synonym: Darier–White disease, keratosis follicularis.
Epidemiology and Etiology
Usually in the first or second decade, males and females equally affected.
Autosomal-dominant trait, new mutations common, penetrance >95%. Loss-of-function mutations in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium adenosine triphosphatase isoform 2 (SERCA 2), which impair intracellular Ca2+ signaling.
Frequently worse in summer with heat and humidity; also exacerbated by UVB, mechanical trauma, and bacterial infections. Often associated with affective disorders and rarely with decreased intelligence.
Usually insidious; is abrupt onset after precipitating factors; associated with severe pruritus and often pain.
Multiple discrete scaling of crusted, pruritic papules (Fig. 5-3); when scaling crust is removed, a slitlike opening becomes visible (Fig. 5-4). Confluence to large plaques covered by hypertrophic warty masses that are foul smelling, particularly in intertriginous areas.
Darier disease: chest Primary lesions are reddish-brown, scaling, and crusted papules that feel warty when stroked. Where crusts have been removed, there are slitlike erosions that are later covered by hemorrhagic crusts.
Darier disease: forehead Partly coalescing, hyperkeratotic papules that are eroded and crusted. The main concern of this young female was disfigurement.
Corresponding to the “seborrheic areas”: chest (Fig. 5-3), back, ears, nasolabial folds, forehead (Fig. 5-4), scalp; axilla, neck, groin.
Multiple, flat, cobblestone-like papules.
Hair not involved, but permanent alopecia may result from extensive scalp involvement and scarring. Nails thin, splitting distally, and showing characteristic V-shaped scalloping.
White, centrally depressed papules on mucosa of cheeks, hard and soft palate, and gums, “cobblestone” lesions.
Associated with acrokeratosis verruciformis, allelic with DD. Multiple, small flat-topped papules predominantly on dorsa of hands and feet.
Dyskeratotic cells in the spinous layer (corps ronds) and stratum corneum (grains), suprabasal acantholysis and clefts (lacunae), and papillary overgrowth of the epidermis and hyperkeratosis.
Diagnosis and Differential Diagnosis
Diagnosis based on history of familial involvement, clinical appearance, and histopathology. May be confused with seborrheic dermatitis, Grover disease, benign familial pemphigus (Hailey–Hailey disease), and pemphigus foliaceus. Acrokeratosis verruciformis: flat warts (verrucae planae juveniles).
Persisting throughout life and not associated with cutaneous malignancies.
Sunscreens, avoidance of friction and rubbing (turtle neck sweaters), antibiotic therapy (systemic and topical) to suppress bacterial infection, topical retinoids (tazarotene and adapalene), or systemic retinoids (isotretinoin or acitretin).