: MeSH: Pemphigus, Benign Familial

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Vesiculobullous > Pemphigus, Benign Familial

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Pemphigus, Benign Familial

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Pemphigus, Benign Familial

Pemphigus, Benign Familial

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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