An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to darier disease - both have abnormal, unstable desmosomes between keratinocytes and defective calcium-transporting atpases. It is unrelated to pemphigus VULGARIS though it closely resembles that disease.


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