Recurrent fevers, progressive lipodystrophy, and annular plaques in a child
•Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autoinflammatory disorder characterized by recurrent fevers, progressive lipodystrophy, and failure to thrive. Cutaneous manifestations include violaceous eyelid edema, perniosis-like acral...
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| Published in | Journal of the American Academy of Dermatology Vol. 80; no. 1; pp. 291 - 295 |
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| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.01.2019
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0190-9622 1097-6787 1097-6787 |
| DOI | 10.1016/j.jaad.2018.08.043 |
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| Abstract | •Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autoinflammatory disorder characterized by recurrent fevers, progressive lipodystrophy, and failure to thrive. Cutaneous manifestations include violaceous eyelid edema, perniosis-like acral lesions, and annular erythematous plaques.•CANDLE syndrome is caused by mutations in genes encoding proteins involved in assembly or function of the proteasome.•The histopathology of CANDLE syndrome is distinct and demonstrates dermal infiltration of atypical myeloid cells, occasionally mimicking leukemia cutis. |
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| AbstractList | •Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autoinflammatory disorder characterized by recurrent fevers, progressive lipodystrophy, and failure to thrive. Cutaneous manifestations include violaceous eyelid edema, perniosis-like acral lesions, and annular erythematous plaques.•CANDLE syndrome is caused by mutations in genes encoding proteins involved in assembly or function of the proteasome.•The histopathology of CANDLE syndrome is distinct and demonstrates dermal infiltration of atypical myeloid cells, occasionally mimicking leukemia cutis. KEY TEACHING POINTS. KEY TEACHING POINTS.KEY TEACHING POINTS. |
| Author | Goldbach-Mansky, Raphaela Richard Lee, Chyi-Chia Montealegre Sanchez, Gina A. Cardis, Michael A. Cowen, Edward W. |
| AuthorAffiliation | a Medstar Washington Hospital Center/Georgetown University Hospital, Washington, DC b Translational Autoinflammatory Disease Studies Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda d National Institute of Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda c National Institute of Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda |
| AuthorAffiliation_xml | – name: c National Institute of Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda – name: a Medstar Washington Hospital Center/Georgetown University Hospital, Washington, DC – name: d National Institute of Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda – name: b Translational Autoinflammatory Disease Studies Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda |
| Author_xml | – sequence: 1 givenname: Michael A. surname: Cardis fullname: Cardis, Michael A. organization: Medstar Washington Hospital Center/Georgetown University Hospital, Washington, DC – sequence: 2 givenname: Gina A. surname: Montealegre Sanchez fullname: Montealegre Sanchez, Gina A. organization: Translational Autoinflammatory Disease Studies Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland – sequence: 3 givenname: Raphaela surname: Goldbach-Mansky fullname: Goldbach-Mansky, Raphaela organization: Translational Autoinflammatory Disease Studies Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland – sequence: 4 givenname: Chyi-Chia surname: Richard Lee fullname: Richard Lee, Chyi-Chia organization: Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland – sequence: 5 givenname: Edward W. surname: Cowen fullname: Cowen, Edward W. email: cowene@mail.nih.gov organization: Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland |
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endoplasmic reticulum stress and insulin resistance in the liver publication-title: Diabetes doi: 10.2337/db11-1652 – volume: 142 start-page: 613 issue: 4 year: 2010 ident: 10.1016/j.jaad.2018.08.043_bib5 article-title: Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress publication-title: Cell doi: 10.1016/j.cell.2010.07.036 |
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| SubjectTerms | autoinflammatory CANDLE Child Chronic Disease Disease Progression Female Fever - etiology genodermatosis Humans interferonopathy lipodystrophy Lipodystrophy - etiology neutrophilic dermatosis Neutrophils proteasome Recurrence Skin Diseases - complications Skin Diseases - diagnosis |
| Title | Recurrent fevers, progressive lipodystrophy, and annular plaques in a child |
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