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Title:
Chilblain lupus erythematosusāa review of literature | Clinical Rheumatology
Description:
Chilblain lupus erythematosus (CHLE) is a rare, chronic form of cutaneous lupus erythematosus. Sporadic cases and two families with autosomal dominant-inherited CHLE have been reported. In familial CHLE, two missense mutations in TREX1 encoding the 3ā²ā5ā² repair exonuclease 1 were described in affected individuals. The pathogenesis of sporadic CHLE remains unknown. Up to 20% of patients develop systemic lupus erythematosus (SLE). An association with anorexia is discussed. In many cases, there is good response to symptomatic therapy. SLE therapeutics have good effects on SLE-typical symptoms but not on chilblains themselves. This article reviews the clinical presentation, pathogenesis, diagnosis and treatment of CHLE. As an index patient with unique features, we report a 13-year-old boy developing CHLE after anorexia nervosa. Sequencing of TREX1 was normal. With psychotherapeutic support for anorexia and after antibiotic therapy, topical steroids, physical warming and calcium channel blockers, the patient experienced significant relief. Improvement of phalangeal perfusion was demonstrated by angio-MRI.
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lupus, article, google, scholar, erythematosus, pubmed, cas, chilblain, dermatol, trex, chle, systemic, syndrome, clinical, access, university, privacy, cookies, content, hedrich, patients, med, dresden, information, publish, search, rheumatology, review, fiebig, hauck, cutaneous, familial, exonuclease, sle, anorexia, treatment, study, open, dna, antigen, hutchinson, clin, hospital, germany, data, log, journal, research, published, sallmann,
Topics {āļø}
dominant aicardiāgoutieres syndrome antiphospholipid antibody syndrome systemic lupus erythematosus min ae lee-kirsch month download article/chapter t-cell ligand activity aicardiāgoutiĆØres syndrome cutaneous lupus erythematosus familial chilblain lupus bollain-y-goytia jj chilblain lupus erythematosus chilblain lupus erythematosus autosomal dominant-inherited chle adult-onset sle ro/ssa antigen expression chronic myelomonocytic leukemia chilblain lupus erythematodes syndrome access full article pdf keratinocyte cell membrane privacy choices/manage cookies 1007/s10067-008-0975-0 rights lupus erythematosus uncommon clinical manifestations phalangeal perfusion endothelial receptor expression anti-ro/ss european economic area scope submit manuscript chronic form calcium channel blockers mayo clinic experience van den maagdenberg c-terminal truncations phorbol 12-myristate 13-acetate familial chle conditions privacy policy technical university dresden ribonucleoproteins ro/ssa sle-typical symptoms boy developing chle check access instant access accepting optional cookies article log symptomatic therapy antibiotic therapy article reviews journal finder publish books a
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- Childhood-Onset Systemic Lupus Erythematosus (cSLE): Is It Really Different Than Adult-Onset SLE?
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headline:Chilblain lupus erythematosusāa review of literature
description:Chilblain lupus erythematosus (CHLE) is a rare, chronic form of cutaneous lupus erythematosus. Sporadic cases and two families with autosomal dominant-inherited CHLE have been reported. In familial CHLE, two missense mutations in TREX1 encoding the 3ā²ā5ā² repair exonuclease 1 were described in affected individuals. The pathogenesis of sporadic CHLE remains unknown. Up to 20% of patients develop systemic lupus erythematosus (SLE). An association with anorexia is discussed. In many cases, there is good response to symptomatic therapy. SLE therapeutics have good effects on SLE-typical symptoms but not on chilblains themselves. This article reviews the clinical presentation, pathogenesis, diagnosis and treatment of CHLE. As an index patient with unique features, we report a 13-year-old boy developing CHLE after anorexia nervosa. Sequencing of TREX1 was normal. With psychotherapeutic support for anorexia and after antibiotic therapy, topical steroids, physical warming and calcium channel blockers, the patient experienced significant relief. Improvement of phalangeal perfusion was demonstrated by angio-MRI.
datePublished:2008-06-10T00:00:00Z
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Chilblain lupus erythematosus
Cutaneous lupus erythematosus
Lupus therapy
Phalangeal vasoconstriction
Raynaudās syndrome
Rheumatology
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headline:Chilblain lupus erythematosusāa review of literature
description:Chilblain lupus erythematosus (CHLE) is a rare, chronic form of cutaneous lupus erythematosus. Sporadic cases and two families with autosomal dominant-inherited CHLE have been reported. In familial CHLE, two missense mutations in TREX1 encoding the 3ā²ā5ā² repair exonuclease 1 were described in affected individuals. The pathogenesis of sporadic CHLE remains unknown. Up to 20% of patients develop systemic lupus erythematosus (SLE). An association with anorexia is discussed. In many cases, there is good response to symptomatic therapy. SLE therapeutics have good effects on SLE-typical symptoms but not on chilblains themselves. This article reviews the clinical presentation, pathogenesis, diagnosis and treatment of CHLE. As an index patient with unique features, we report a 13-year-old boy developing CHLE after anorexia nervosa. Sequencing of TREX1 was normal. With psychotherapeutic support for anorexia and after antibiotic therapy, topical steroids, physical warming and calcium channel blockers, the patient experienced significant relief. Improvement of phalangeal perfusion was demonstrated by angio-MRI.
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Cutaneous lupus erythematosus
Lupus therapy
Phalangeal vasoconstriction
Raynaudās syndrome
Rheumatology
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