Dariers disease

Darier's disease: Description, Causes and Risk Factors:Abbreviation: DD.Alternative Names: Keratosis follicularis, dyskeratosis follicularis.Darier's disease is a genetic disease that causes dark, wart-like lesions on the skin. These lesions may appear anywhere on the body, but typically occur on the scalp, forehead, arms, chest and back, and may be mild to severe in size and occurrence. The lesions not only affect the appearance of the skin, but also cause itching and discomfort. The prevalence is estimated at around 1/50,000. Onset of the disease usually occurs around puberty. Darier disease is not contagious; that is, it does not spread from person to person.Darier's disease is an autosomal dominant skin disorder, caused by mutations of the ATP2A2 gene. The ATP2A2 gene provides instructions for making an enzyme called sarco/endoplasmic reticulum calcium transport ATPases (SERCA2). This enzyme belongs to a family of ATPase enzymes that helps control the level of positively charged calcium ions inside cells. Within the cell, SERCA2 is found in the endoplasmic reticulum and a related structure in muscle cells called the sarcoplasmic reticulum. The endoplasmic reticulum is a structure inside the cell that is involved in protein processing and transport. The sarcoplasmic reticulum assists with muscle contraction and relaxation by releasing and storing calcium ions. Calcium ions act as signals for a large number of activities that are important for the normal development and function of cells. SERCA2 allows calcium ions to pass into and out of the cell in response to cell signals.DD is characterized by hyperkeratotic papules and plaques primarily in seborrheic areas, palmoplantar pits, papules on the dorsum of the feet and hands, and broken papillary lines. Hypopigmented macules may be seen in black-colored patients. Associated findings include whitish coats or papules of the oral mucous membrane, nail abnormalities with distal v-shaped notches, and various neuropsychiatric abnormalities, from learning difficulties to affective psychosis and schizophrenia. Salivatory stones and cysts of the long bones have been described infrequently in DD patientsBoth sexes are equally affected.Darier's disease is aggravated by sunlight, sweating, mechanical trauma and infection.Darier's diseaseSymptoms:Symptoms of Darier disease usually first appear around 6 to 20 years of age, with a peak incidence between the ages of 11 and 15 years. Some common features of this disease are itching, little brownish, rough-topped bumps may develop on the skin. And also pits occur on the palms of the hands and the soles of the feet.In DD an unpleasant smell may occur from the patient.The ducts of the salivary glands in the cheek may be obstructed.Occasionally, people who have DD also experience a form of neurological disorder, such as epilepsy, depression, or a mild intellectual disability. Learning and behavioral difficulties have also been reported among persons with DD.Diagnosis:Differential diagnoses include Hailey-Hailey disease, pemphigus and warty dyskeratoma, as well as transient acantholytic dermatosis.In most cases, Darier disease is diagnosed by its appearance and the person's family history, although it is many times mistaken for other forms of skin issues. The diagnosis is based on the typical characteristics of skin lesions in Darier disease. A skin biopsy will usually show characteristic degeneration of cells in the epidermis (acantholysis) and abnormally increased keratinisation (hyperkeratinization). DNA-based diagnosis is possible but is not done routinely.Treatment:There is currently no permanent cure for Darier disease, but symptomatic relief is available. It is particularly important to prevent skin infections and to counteract abnormal keratinisation.Cleansing the skin with a mild antibacterial soap sometimes helps control the odor.
  • The doctor may give you a prescription for a gel or lotion to use on your skin.
  • Patients should avoid sun and heat. Emollients containing urea or lactic acid are of benefit for more limited lesions. Topical application of tretinoin or isotretinoin is effective against hyperkeratosis, but the risk of irritation limits their use. Topical steroids may reduce irritation, but they are not effective when used alone. Retinoids such as tazarotene are better tolerated. In case of severe disease, acitretin (an oral retinoid) is the most effective treatment, but possible side-effects must be monitored.
  • Dermabrasion, electrodessication and surgical removal were once the only options for removing DD lesions. These methods each have limitations on the type of skin, skin area and degree of the DD skin condition that may be effectively treated. Carbon dioxide (CO2) laser vaporization emerged as another option for removing skin lesions caused by DD, but this method poses side effects, risks and complications that outweigh the benefits for many patients.
Disclaimer: The above information is just informative purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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