Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.
Copyright policy )Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1.
Chilblain lupus erythematosus is a rare form of cutaneous lupus erythematosus characterized by bluish red infiltrates in acral locations of the body mostly affecting middle-aged women. We recently described a familial form of chilblain lupus manifesting in early childhood caused by a heterozygous mutation in the TREX1 gene, which encodes a 3′-5′ DNA exonuclease. Thus, familial chilblain lupus represents the first monogenic form of cutaneous lupus erythematosus. Here we describe the unusual clinical course of this newly defined genodermatosis in an 18-year-old female member of the family in which familial chilblain lupus was originally described.
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- TU Dresden Germany
Adolescent, TREX1 gene, DNAse, Chilblain lupus, Lupus erythematosus, Risk Assessment, Rare Diseases, Lupus Erythematosus, Cutaneous, Humans, Genetic Predisposition to Disease, info:eu-repo/classification/ddc/610, ddc:610, Aspirin, Biopsy, Needle, Phosphoproteins, Immunohistochemistry, Exodeoxyribonucleases, Gene Expression Regulation, Fluorescent Antibody Technique, Direct, Chronic Disease, Mutation, Disease Progression, Drug Therapy, Combination, Female, TREX1, Desoxyribonuklease, Lupus erythematodes, Chilblain Lupus erythematodes, Chilblain-Lupus, Follow-Up Studies, Hydroxychloroquine
Adolescent, TREX1 gene, DNAse, Chilblain lupus, Lupus erythematosus, Risk Assessment, Rare Diseases, Lupus Erythematosus, Cutaneous, Humans, Genetic Predisposition to Disease, info:eu-repo/classification/ddc/610, ddc:610, Aspirin, Biopsy, Needle, Phosphoproteins, Immunohistochemistry, Exodeoxyribonucleases, Gene Expression Regulation, Fluorescent Antibody Technique, Direct, Chronic Disease, Mutation, Disease Progression, Drug Therapy, Combination, Female, TREX1, Desoxyribonuklease, Lupus erythematodes, Chilblain Lupus erythematodes, Chilblain-Lupus, Follow-Up Studies, Hydroxychloroquine
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