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 characteristic appearance of skin in darier’s disease. Skin condition aggravates during high humidity, stress and wearing tight fitting clothes. Vertical striation in finger nails and fragile nails are diagnostic feature of darier’s disease. Rashes in darier’s disease have a distinct odor. Intra oral papule can be found, palms and soles may become thick. Darier’s disease is not a contagious disease.
Commonly affected parts of 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. Minor form of the disease may remain undiagnosed lifelong.
Age/sex prevalence of Darier's Disease
Darier’s disease affects both males and females.Mortality/morbidity of Darier's Disease
Darier’s disease commonly starts from 6-20 years of age. However patient of age 4 and up to 70 years are also seen affected with the disease.
Causes 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 proves fatal.
However, patient with darier’s disease have a life expectancy as that of general population.
Cause of development of Darier’s disease is mutation in the gene that codes for enzyme SERCA2 (sarco-endoplasmic reticulum CA2+-ATP ase). The gene ATP2A2 is localized in chromosome 12 and controls the synthesis of 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 development of horny cells prematurely before they reach surface of skin.
Signs and symptoms of Darier's Disease
Symptoms starts with appearance of rough papules in outer most layer of skin, mainly around 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 herpes virus. Severity of disease varies over time. Hot and humid climate aggravate the rashes. There is increased growth of bacteria on skin lesions that emits unpleasant odor. 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 epidermis and increased keratinisation.
Treatment for Darier's Disease
• Treatment aims at relieving the symptoms.Prevention of Darier's Disease
• Softening creams are used to counteract the thickening of horny layer.
• Oral retinoids are used to normalize the keratinisation process. But 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 case of skin infection antibacterial treatment is required. In herpes virus infection antiviral agents are used.
• Avoid exposure to direct sunlight.Differential diagnosis of Darier's Disease
• Loose fitting clothes are advised to wear.
• Frequent showering proves beneficial but excessive scrubbing may cause weeping sores.
• Seborrheic dermatitis.
• Transient Acantholytic Dermatosis.
• Familial benign pemphigus.
• Acrokeratosis verruciformis of Hopf.