A moderately obese 40-year-old white woman presents with a long-standing history of an intermittently pruritic rash affecting her chest and the flexural and anogenital regions. Over the years, the eruption has waxed and waned in intensity, worsening in the summer months. Multiple topical medications have provided little relief. Several other family members are similarly affected. The dermatitis is characterized by the presence of numerous hyperpigmented, hyperkeratotic papules, many covered by a waxy scale. Her nails have white longitudinal ridges.
Submit your diagnosis to see full explanation.
Darier disease, also known as keratoses follicularis, is a keratinization disorder that has an autosomal-dominant inheritance pattern. Onset usually occurs from ages 6 to 20 years,1 and it is linked to a mutation in the ATP2A2 gene found on chromosome 12q23-24.2
Affected individuals typically present with greasy hyperkeratotic papules and plaques that usually occur in seborrheic areas including the scalp, face, and central chest.3 Lesions are typically asymptomatic but may cause pruritus or irritation.4 The hyperkeratotic variant is most common; other subtypes include vesiculobullous, hypopigmented, cornifying, zosteriform, and comedonal.5
Treatment modalities include oral and topical retinoids, dermabrasion, and laser surgery. Although the oral retinoids acitretin and isotretinoin are effective for the majority of patients, adverse effects can make-long term management difficult.1,6 One case report documented significant improvement following localized administration of botulinum toxin.7
John Pappas is a medical student at the Geisinger Commonwealth School of Medicine in Scranton, Pennsylvania. Stephen Schleicher, MD, is an associate professor of medicine at the Commonwealth Medical College in Scranton, Pennsylvania, and an adjunct assistant professor of dermatology at the Perelman School of Medicine at the University of Pennsylvania in Philadelphia. He practices dermatology in Hazleton, Pennsylvania.
- Burge SM, Wilkinson JD. Darier-White disease: a review of the clinical features in 163 patients. J Am Acad Dermatol. 1992;27:40-50.
- Sakuntabhai A, Burge S, Monk S, Hovnanian A. Spectrum of novel ATP2A2 mutations in patients with Darier’s disease. Hum Mol Genet. 1999;8:1611-1619.
- Aliağaoğlu C, Atasoy M, Anadolu R, Ismail Engin R. Comedonal, cornifying and hypertrophic Darier’s disease in the same patient: a Darier combination. J Dermatol. 2006;33:477-480.
- Hall JR, Holder W, Knox JM, Knox JM, Verani R. Familial dyskeratotic comedones. A report of three cases and review of the literature. J Am Acad Dermatol. 1987;17:808-814.
- Derrick EK, Darley CR, Burge S. Comedonal Darier’s disease. Br J Dermatol. 1995;132:453-455.
- Cooper SM, Burge SM. Darier’s disease: epidemiology, pathophysiology, and management. Am J Clin Dermatol. 2003;4:97-105.
- Kontochristopoulos G, Katsavou AN, Kalogirou O, Agelidis S, Zakopoulou N. Letter: Botulinum toxin type A: an alternative symptomatic management of Darier’s disease. Dermatol Surg. 2007;33:882-883.