Desiree Lie, MD, MSEd

Disclosures

May 24, 2001

Question

What is the best way to manage a patient with Darier's disease?

Vernon L. Ompok, MD

Response from Desiree Lie, MD, MSEd

Darier's disease, or keratosis follicularis, is a rare inherited autosomal dominant disease affecting the skin, nails, and mucosa. Gene mutation at a single locus on chromosome 12q23-q24.1 has been shown to be the cause.[1]

Skin biopsy is diagnostic. The disease presents in a time period typically ranging from 6 years to 20 years. The initial symptom is often a rash that mimics acne or seborrheic dermatitis. The rash is sun- and heat-sensitive. It is characterized by crusted follicular papules that become malodorous, inflammatory eczematization, and skin fragility often accompanied by painful fissuring.

Nail manifestations are also common and include dystrophy with subungual hyperkeratosis. Palmar and sole hyperkeratosis are variable features. Papules, fissures, and crusts may appear on mucosal surfaces.

The disease is chronic and runs a variable course. Some patients suffer exacerbations in the summer, and some female patients experience premenstrual exacerbation.[2,3]

Management is symptom-based and directed at comfort and control. Patient education and support, including participation in patient support groups, is recommended. Routine use of cotton clothing, high-SPF sunblock, and moisturizers containing urea or lactic acid is important. Studies on the use of prescription medications have been conducted only in small cohorts, and good evidence for treatment outcomes is limited.

The following categories of treatment have been described:

Topical

  • Topical retinoids have been shown to reduce hyperkeratosis within 3 months but can be drying and may cause pruritis.[4] Careful dosing with frequent adjustment may be necessary.

  • Moderately potent topical steroids, which show variable success in controlling inflammation, may be used as a supplement to retinoid treatment.

  • When secondary bacterial infection (usually Staphylococcus aureus) is present topical antibiotics may be indicated.

Systemic

  • Oral retinoids are considered the most effective treatment for widespread disease. They can control malodor, flexural plaques, and hyperkeratosis. Isotretinoin 0.5-1 mg/kg/day is recommended for childbearing-age females, who should avoid pregnancy during and for 1 month after treatment. Retinoids take several months to be effective, and may also be used episodically for seasonal control. Lipids and liver enzymes should be monitored during oral retinoid use. Photosensitization and mucosal dryness are troublesome side effects, which may outweigh the benefits of treatment with this medication.[5]

  • Oral antibiotics are often indicated for secondary bacterial infection. Acyclovir is used for herpes simplex superinfection, which may be painful and blistering.

  • Oral contraceptives may help control premenstrual exacerbation.

Other interventions that may be of benefit have been studied only in very small numbers of patients. These include: topical 1% 5-fluorouracil, cyclosporin, electrosurgery, carbon dioxide laser vaporization, and oral essential fatty acids. These interventions require larger-scale investigation.

In summary, treatment for this rare condition is limited to symptom control, and is tailored to the needs of the individual patient and to the disease severity.

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