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Article

Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome

15 Apr 2020

Abstract excerpt

BACKGROUND: Familial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in TREX1, SAMHD1 and STING have been described in FCL patients. Less than 10 TREX1 mutation positive FCL families have been described in the literature. CASE PRESENTATION: Genetic study was performed in a...

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PMID: 32293470
DOI: 10.1186/s12969-020-00423-y

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