Darier’s disease is a rare, genetic disorder which causes a decreased and abnormal sticking together of skin cells and results in a variety of changes including irritating greasy crusted lumps on the skin and nail changes.
Darier’s disease is caused by a gene mutation. Each child of an affected adult will have a 50% chance of inheriting the disorder. The disorder may also be caused by a new mutation without any previous history of family members being affected.
The head and neck are the most commonly affected sites, especially the scalp and eyebrows. In some cases, the skin lesions can be more widespread.
There are a number of different clinical appearances. Typically there are pink papules (small bumps) or plaques (larger raised or thickened areas of skin) with prominent pores which are the hair follicle openings. The mucin (gelatinous clear material) may ooze from these pores, especially if the area is touched or squeezed. There is usually loss of hair in the affected areas, sometimes accompanied by scarring. The skin lesions may be itchy.
There are no clear distinguishing features between benign or non-cancerous and lymphoma-associated cases.
Benign cases are more likely to occur in younger people. There are a small number of skin lesions which are localised to the head and neck.
Lymphoma-associated cases are more likely to occur in older people. A larger number of lesions occur across multiple body sites.
The most significant association is cutaneous T-cell lymphoma (mycosis fungoides).
A skin biopsy is necessary to confirm the diagnosis.
There is no known cure for Darier’s disease. Treatment is given to relieve symptoms, treat complications such as infection and improve quality of life.
The following general measures may be helpful in preventing flare-ups. These include: avoiding triggers, using adequate sun protection, avoiding excessive heat and wearing loose cool cotton clothing.
Soap substitutes, moisturisers and creams containing urea or lactic acid may be used in addition to topical vitamin A creams, although these may also cause irritation. Topical steroid creams may be helpful in reducing irritation and itch. Regular use of antiseptics in the bath may be recommended to reduce the chance of developing an infection.
Sudden onset of pain or weeping or blisters requires a visit to the local doctor for a swab and then treatment with antibiotics or antiviral medication.
Oral medication (acitretin) may be used to treat widespread Darier’s disease especially in the summer months. However, this form of treatment is not suitable for all affected individuals. Acitretin is not safe in pregnancy and must be prescribed by a dermatologist.
Surgical or laser removal may be appropriate for smaller severely affected areas such as under the armpits.
Referral to a geneticist or genetic counselling may be appropriate.
This information has been written by Dr Sara Tritton
