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DeCS
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Descriptor English:
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Darier Disease
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Descriptor Spanish:
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Enfermedad de Darier
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Descriptor Portuguese:
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Doença de Darier
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Synonyms English:
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Acrokeratosis Verruciformis of Hopf
Darier-White Disease
Keratosis Follicularis
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Tree Number:
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C16.320.850.190
C17.800.428.275
C17.800.827.190
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Definition English:
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An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES. |
History Note English:
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2009 (1966)
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Allowable Qualifiers English:
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Record Number:
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7811
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Unique Identifier:
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D007644
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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