Pemphigus, Benign Familial

**Definition:** 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.

**Tree numbers:** - C16.320.850.700 - C17.800.827.700 - C17.800.865.858

**Synonyms:** - Familial Benign Chronic Pemphigus - Hailey-Hailey Disease - Benign Chronic Pemphigus - Chronic Benign Familial Pemphigus