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Darier disease

11 June 2012, by El FEKIH N. & KHARFI M. & KAMOUN M.R.


Darier disease is a rare genodermatosis caused by abnormal adhesion between keratinocytes. It is transmitted in an autosomal dominant pattern, with almost total penetrance and variable expressivity. The disease is caused by a mutation in the ATP2A2 gene located on chromosome 12 q23-24.1 [1, 2, 3] that disrupts the regulation of intracellular calcium levels and affects the intercellular adhesion system and/or the organisation of the cytoskeleton. This abnormal keratinocyte adhesion is thought to be connected to abnormalities of the dendritic cells, which are involved in local immune response [4].

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