December 2016 | Case of the Month

The diagnosis is Darier's disease.

Darier's disease is inherited as autosomal dominant, meaning that a single gene passed from one parent causes the condition. The chance of a child inheriting gene if one parent is affected is 1 in 2 but not all people with the abnormal gene will develop symptoms of the disease. Symptoms tend to first present in the second decade of life. Heat and sunlight can exacerbate symptoms.

Distribution

• The seborrhoeic areas of the trunk and face (ie more central), along with the scalp, hairline, temples and ears are the most commonly affected sites
• The flexures are also commonly involved
• Less commonly Darier's can have a Blaschkoid distribution

Morphology

• There can be significant variation between individuals, with some having very mild skin changes, while others have extensive lesions
• The characteristic lesion is a persistent, greasy-looking, firm, rough papule, which is skin-coloured or yellow-brown. Lesions can coalesce to form large warty plaques, which if arise in the flexures can be very malodorous
• The scalp is often heavily crusted, and has a rough feel
• Less common presentations include multiple pale macules, especially in darker-skinned individuals, and nodular acne

Lesions on the hands and nails

• Small pits on the palms and soles are very characteristic
• Flat-topped papules on the dorsa of the hands and feet can be a very early sign
• Most patients will have white or red longitudinal bands affecting the nails, often ending in a characteristic V-shaped notch at the free edge of the nail

Management

• The mainstay of treatment is emollients and systemic retinoids. The latter can only be prescribed in Secondary Care as they are highly teratogenic, and as such are not suitable for fertile women

Please refer to the chapter on Darier's disease for more information.