论文信息 - Novel mutation of the ATP2A2 gene in a case of Darier’s disease featuring erosive lesions

Novel mutation of the ATP2A2 gene in a case of Darier’s disease featuring erosive lesions

Darier's disease (DD) is caused by defects in the ATP2A2 gene on chromosome 12q23-24.1, which encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2 (SERCA2) [1]. Here we report a novel mutation of ATP2A2 in a sporadic case of DD featuring erosive skin lesions.A 46-year-old woman presented with brown keratotic plaques surrounded by crusted, red papules on the neck (figure 1A), prothorax, axillae and groin and painful erosive lesions with extensive fragility and fissuring on the dorsa of the [...]

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