Chilblain lupus 1 [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C535924
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