Pemphigus, Benign Familial

Familjär benign pemfigus

Engelsk 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.

Svenska synonymer

Hailey-Haileys sjukdom

Engelska synonymer

Benign Familial Pemphigus Familial Pemphigus, Benign Chronic Benign Familial Pemphigus Benign Chronic Pemphigus Familial Benign Chronic Pemphigus Hailey-Hailey Disease Hailey Hailey Disease