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DeCS
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Descriptor English:
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Pemphigus, Benign Familial
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Descriptor Spanish:
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Pénfigo Familiar Benigno
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Descriptor Portuguese:
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Pênfigo Familiar Benigno
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Synonyms English:
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Benign Chronic Pemphigus
Benign Familial Pemphigus
Chronic Benign Familial Pemphigus
Familial Benign Chronic Pemphigus
Familial Pemphigus, Benign
Hailey Hailey Disease
Hailey-Hailey Disease
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Tree Number:
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C16.320.850.700
C17.800.827.700
C17.800.865.858
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Definition English:
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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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History Note English:
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92
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Allowable Qualifiers English:
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Record Number:
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29899
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Unique Identifier:
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D016506
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Occurrence in VHL:
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Similar:
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DeCS
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