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Darier's Disease - Symptoms and Treatment
Darier's Disease is a chronis skin disorder. Darier's Disease is a comman condition which can occur in any age group. Darier's Disease is an autosomal dominantly inherited skin disorder, characterized by loss of adhesion between epidermak cells and abnormal keratinization. It is a rare genetic disorder that is manifested predominantly by skin changes. Onset of skin changes is usually in adolescence and the disease is usually chronic. Darier's disease is known because of dark crusty patches on the skin, sometimes containing pus. The crusty patches are also known as keratotic papules and also called keratosis follicularisis. It affects both men and women. It is not contagious (catching) or due to an allergy. It runs in certain families, being inherited in a pattern known as 'dominant inheritance' - which means that there is a 1 in 2 chance that each child of an affected parent will inherit the problem. At times the rash will cause a bad odor. This disease can also cause the fingernails to be fragile at the tips causing V-shaped notches at the end of the nails as pictured below. The disease affects the outermost layer of the skin, the epidermis, which thickens around the hair follicles. The disorder also manifests as impaired cell adhesion, meaning that the cells do not bind to each other as they should, and as a result the skin becomes frail.
Darier disease is also known as 'keratosis follicularis'. Abnormal keratinocyte-keratinocyte adhesion and aberrant epidermal keratinization are the primary histologic features of Darier disease. Usually Darier disease is diagnosed by its appearance and the family history, but it is often is mistaken for other skin problems. Diagnosis may require a skin biopsy. Patients with Darier disease experience pruritus and sometimes pain in the affected skin areas. Psychosocial consequences from the appearance and odor of the lesions also constitute the major morbidity of this condition. The disease is hereditary and dominant. The disease often starts during or later than the teenage years, typically by the third decade. In Darier's disease the sticky junctions that hold the skin cells together are not made properly, and the skin may become scaly or lumpy or even form blisters. The severity of the condition varies a lot and is unpredictable. The finger nails are usually affected. Darier's Disease is an autosmoal dominant disease that typically arises during the first or second decades of life. It involves the abnormal keratinization of the epidermis, moucosa and nails. Reccently the abnormal gene in Darier disease has been identified as ATP2A2 , found on chromosome 12q23-24.1. This gene codes for the SERCA enzyme or pump (SarcoEndoplasmic Reticulum Calcium-ATPase) that is required to transport calcium within the cell. The exact mechanism by which this abnormal gene causes the disease is still under investigation but is appears that the way in which skin cells join together may be disrupted. The skin cells (keratinocytes) stick together via structures called desmosomes and it seems the desmosomes do not assemble properly if there is insufficient calcium.
Causes of Darier Disease
Common causes and risk factor's of Darier's Disease include the following :
Symptoms of Darier Disease
Some sign and symptoms related to Darier's Disease are as follows:
Treatment of Darier Disease
Here is list of the methods for treating Darier's Disease:
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