Darier’s disease

Darier’s disease is an autosomal dominant disorder. Darier’s disease is first described by dermatologist Ferdinand-Jean Dairer. Dark crusty patches, sometimes containing pus, is the characteristic appearance of skin in darier’s disease. Skin condition aggravates during high humidity, stress and wearing tight fitting clothes. Vertical striation in fingernails and fragile nails are diagnostic features of darier’s disease. Rashes in darier’s disease have a distinct odour. Intraoral papule can be found, palms and soles may become thick. Darier’s disease is not a contagious disease.

Commonly affected parts of the body are scalp, forehead, behind the ears, arms, elbows, back, chest and knee. Mucous membranes also get involved.

Occasionally patient with darier’s disease may develop neurological disorders as depression, epilepsy or mild intellectual disability. A minor form of the disease may remain undiagnosed lifelong.

Age/Sex prevalence of Darier's Disease
Darier’s disease affects both males and females.
Darier’s disease commonly starts from 6-20 years of age. However, a patient of age 4 and up to 70 years are also seen affected with the disease.
Mortality/morbidity of Darier's Disease
In darier’s disease, there is increased susceptibility to cutaneous bacterial and viral infections. Misdiagnosis of darier’s disease leads to under-treatment of these infections and may prove fatal.

However, the patient with darier’s disease has a life expectancy as that of the general population.

Causes of Darier's Disease
The cause of development of Darier’s disease is a mutation in the gene that codes for enzyme SERCA2 (sarcoendoplasmic’s reticulum CA2+-ATP ase). The gene ATP2A2 is localised in chromosome 12 and controls the synthesis of the SARCA2 enzyme. This enzyme pumps calcium across the cell membrane. If one of the two genes ATP2A2 is affected, the normal functionality in skin cells is not maintained, there is impaired passage of calcium in skin cells resulting in the development of horny cells prematurely before they reach the surface of the skin.
Signs and symptoms of Darier's Disease
Symptoms start with the appearance of rough papules in the outermost layer of skin, mainly around the hair follicle. The papules then develop into a brownish rash then grow together and form a thick plaque with a moist surface. Plaques are susceptible to infections from bacteria and herpesvirus. The severity of the disease varies over time. Hot and humid climate aggravate the rashes. There is increased growth of bacteria on skin lesions that emit an unpleasant odour. Rashes are moist and bleed less often. Acute swelling of parotid gland occurs as a result of obstruction of salivary glands.
Investigations for Darier's Disease
Skin biopsy shows degenerated cells in the epidermis and increased keratinization.
Treatment for Darier's Disease
• Treatment aims at relieving the symptoms.
• Softening creams are used to counteract the thickening of the horny layer.
• Oral retinoids are used to normalise the keratinization process. But the restricted use of retinoid is recommended as it has side effects. It is strictly avoided in pregnant women as it can cause birth defects.
• Surgery may be required in case of obstruction of salivary glands.
• In the case of skin infection, antibacterial treatment is required. In herpes virus infection antiviral agents are used.
Prevention of Darier's Disease
• Avoid exposure to direct sunlight.
• Loose fitting clothes are advised to wear.
• Frequent showering proves beneficial but excessive scrubbing may cause weeping sores.
Differential diagnosis of Darier's Disease
• Seborrheic dermatitis.
• Transient Acantholytic Dermatosis.
• Familial benign pemphigus.
• Acrokeratosis verruciformis of Hopf.

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