Page 1 of 1: Dariers Disease

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Dariers dis is Vitamin ___________ dependant condition

a.A
b.B1
c.C
d.D

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A??

2shar · Credits: 7830 My Scrapbook

what is Dariers dis?

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vitamin A

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Darier's disease
Darier's disease is also known as ‘keratosis follicularis’. 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. It is inherited in an autosomal dominant pattern, which means that a single gene passed from one parent causes the condition. The chance of a child inheriting the abnormal gene if one parent is affected is 1 in 2 (50%) but not all people with the abnormal gene will develop symptoms of the disease.

Reccently the abnormal gene in Darier's 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.

If symptoms are particularly severe then a trial of an oral retinoid medication such as acitretin or isotretinoin may be effective. Ciclosporin has been reported to be effective in a few patients.

Treatment is required only if there are troublesome symptoms. For patients with mild disease simple moisturisers, sun protection and selection of the right clothing to avoid heat and sweating are usually sufficient.

Dermabrasion (sanding off the surface of the skin) may be effective in localised disease. Localised Darier's disease may also be treated successfully with topical retinoids.

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Vit A

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