Hailey–Hailey disease

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A skin-blistering disease (familial chronic benign pemphigus) due to a defect in epidermal cell junctions, even though apparently normal desmosomes and adherens junctions can be assembled. Transmitted as an autosomal dominant and caused by mutation in a calcium-transporting ATPase (ATP2C1) that is highly expressed in human epidermal keratinocytes. It is not clear how this leads to the adhesion problem.

Subjects: Medicine and Health.

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