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Chilblain lupus 1 MeSH Supplementary Concept Data 2023


MeSH Supplementary
Chilblain lupus 1
Unique ID
C535924
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535924
Entry Term(s)
CHBL1
Chilblain lupus
Registry Number
0
Heading Mapped to
*Chilblains
*Lupus Erythematosus, Cutaneous
Frequency
69
Note
A hereditary, autosomal dominant form of systemic lupus erythematosus (OMIM: 152700) that is characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) and is precipitated by cold and wet exposure. Mutations in the TREX1 gene have been identified. OMIM: 610448
Date of Entry
2010/08/25
Revision Date
2015/08/18
Chilblain lupus 1 Preferred
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