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pemfigus benígny familiárny
Č. záznamu d016506 Dátum 12.05.2026 Typ M - MESH Tematický termín pemfigus benígny familiárny Iný termín Angličtina (Pseudonym) Chronic Benign Familial Pemphigus
Angličtina (Pseudonym) Familial Benign Chronic Pemphigus
Angličtina (Pseudonym) Hailey-Hailey Disease
Slovenčina (Pseudonym) pemfigus benígny chronický
Slovenčina (Pseudonym) pemfigus benígny familiárny chronický
Slovenčina (Pseudonym) Haileyova-Haileyova choroba
Slovenčina (Pseudonym) Hailey-Haileyova choroba
MDT C16.320.850.700C17.800.827.700C17.800.865.858 Poznámka 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. 
predmetové heslo
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