A 23-year-old woman presents with rough bumps on her neck, trunk, and shoulders first noted approximately 6 months ago. She states that her symptoms intensify during the warmer months and when she sweats. The lesions are itchy and sometimes have a foul odor. The patient reports that her mother, aunt, and several cousins all have similar rashes. On examination, the patient has numerous hyperkeratotic papules on her neck and shoulders, as well as erythematous patches on her upper chest.
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Keratosis follicularis, also known as Darier disease, is an uncommon, autosomal-dominant inherited disease first described independently by both Darier and White in 1889. It is characterized by loss of intercellular adhesion and disordered keratinization that give rise to warty plaques and papules in seborrheic body areas. This disease affects both sexes, and most affected individuals will have either a positive family history or undiagnosed family members who experience similar presentations.1
Darier disease involves a mutation in the ATP2A2 gene encoding sarco/endoplasmic reticulum calcium pumping ATPase type 2 on chromosome 12.2 Some reports have found a correlation between Darier disease and underlying autoimmune disease.3
Clinically, lesions associated with this disease appear as greasy hyperkeratotic papules localized to the trunk, forehead, scalp, and other seborrheic areas. On flexural surfaces, they may become malodorous or infected due to friction. When appearing on the palms and soles, lesions usually present as discrete, punctate papules with centrally depressed pits. Nail involvement is not uncommon and appears as longitudinal bands, V-shaped nicking of the distal nail bed, and subungual hyperkeratosis. Papular mucosal lesions may also be present. Factors that exacerbate this condition include heat and humidity, sweat, sunlight, oral corticosteroids, and mechanical trauma.4,5
Treatment of Darier disease is focused on controlling irritation. Patients are advised to use emollients, keep cool, wear comfortable cotton clothing, and apply sunscreen. Mild cases may respond to topical retinoids and corticosteroids; more severe cases may warrant oral retinoids. Alternative therapeutic approaches such as topical 5-fluorouracil, dermabrasion, electrodessication, and ablative laser have been reported but with limited efficacy.1,5
Nelson Maniscalco, DPM, is a podiatric-dermatology fellow under the aegis of St. Luke’s Medical Center and the DermDox Centers for Dermatology, and Stephen Schleicher, MD, is director of the DermDox Center for Dermatology, as well as an associate professor of medicine at Commonwealth Medical College and a clinical instructor of dermatology at Arcadia University and Kings College.
- Cooper SM, Burge SM. Darier’s disease: epidemiology, pathophysiology, and management. Am J Clin Dermatol. 2003;4(2):97-105.
- Shi B-J, Feng J, Ma C-C, et al. Novel mutations of the ATP2A2 gene in two families with Darier’s disease. Arch Dermatol Res. 2009;301(1):27-30.
- Pignataro F, Marigliano B, Sambataro G, Afeltra A. Darier’s disease and rheumatoid arthritis: a new association and a review of the literature. Int J Rheum Dis. 2017;20(12):2146-2147.
- Parwanda N, Kumari N, Bhardwaj P. Darier-White disease. Indian Pediatr. 2013;50(7):717-718.
- Avery HL, Hughes BR, Coley C, Cooper HL. Clinical improvement in Darier’s disease with photodynamic therapy. Australas J Dermatol. 2010;51(1):32-35.