Recurrent fevers, progressive lipodystrophy, and annular plaques in a child - 13/12/18
Doi : 10.1016/j.jaad.2018.08.043
Michael A. Cardis, MD a, Gina A. Montealegre Sanchez, MD, MS b, Raphaela Goldbach-Mansky, MD, MHSc b, Chyi-Chia Richard Lee, MD, PhD c, Edward W. Cowen, MD, MHSc d, ⁎ 
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, Maryland
c Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland
d Dermatology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland
∗Correspondence to: Edward W. Cowen, MD, MHSc, NIAMSD, National Dermatology Branch, 10 Center Dr, MSC 1908, Bethesda, MD 20892.NIAMSDNational Dermatology Branch10 Center Dr, MSC 1908BethesdaMD20892
Abstract |
Key teaching points |
• | 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 words : autoinflammatory, CANDLE, genodermatosis, interferonopathy, lipodystrophy, neutrophilic dermatosis, proteasome
Abbreviations used : CANDLE, NIH, POMP, PSMB8
Plan
| Funding sources: Supported by the Intramural Research Program of the National Institutes of Health (National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Allergy and Infectious Diseases, and National Cancer Institute). |
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| Conflicts of interest: None disclosed. |
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| Note: Drs Goldbach-Mansky and Montealegre Sanchez at the NIH are currently studying patients with autoinflammatory syndromes. Clinicians can refer interested patients to the NIH Patient Recruitment and Referral Office at 800-411-1222 or by e-mail to prpl@mail.cc.nih.gov. |
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| Reprints not available from the authrs. |
© 2018
Publié par Elsevier Masson SAS.
Vol 80 - N° 1
P. 291-295 - janvier 2019 Retour au numéro
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