CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature—a rare case with a novel mutation

European Journal of Pediatrics

Volumn 175, Issue 5, 2016, Pages 735-740

  Cavalcante, Miria Paula V ^a,b   Brunelli, Juliana B ^b   Miranda, Clarissa C ^b   Novak, Glaucia V ^b   Malle, Louise ^c   Aikawa, Nadia E ^b,c   Jesus, Adriana A ^c   Silva, Clovis Artur ^a,d  

^a HOSPITAL GERAL DE FORTALEZA   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^d NONE   (Brazil)

Author keywords

CANDLE syndrome; PSMB8 gene; Sweet syndrome; Tocilizumab

Indexed keywords

ACUTE PHASE PROTEIN; ASPARTATE AMINOTRANSFERASE; AZATHIOPRINE; C REACTIVE PROTEIN; COLCHICINE; CYCLOSPORIN; GLUCOCORTICOID; HEMOGLOBIN; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN M; LOW DENSITY LIPOPROTEIN CHOLESTEROL; METHOTREXATE; METHYLPREDNISOLONE; PREDNISOLONE; PREDNISONE; PROTEASOME; PROTEASOME SUBUNIT BETA TYPE 8 PROTEIN; TOCILIZUMAB; UNCLASSIFIED DRUG; DNA; LMP7 PROTEIN;

ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CAUCASIAN; CHILD; CHILL; CHOLESTEROL BLOOD LEVEL; CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME; CLINICAL FEATURE; CONSANGUINITY; CORTICOSTEROID THERAPY; CYANOSIS; DRUG DOSE REDUCTION; DRUG MEGADOSE; DRUG RESPONSE; DRUG TREATMENT FAILURE; DRUG WITHDRAWAL; ECHOCARDIOGRAPHY; ERYTHEMA; ERYTHROCYTE SEDIMENTATION RATE; FACIES; FEVER; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HEMATOCRIT; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; HYPERPIGMENTATION; HYPERTRIGLYCERIDEMIA; IMMUNOTHERAPY; INFLAMMATORY INFILTRATE; IRON DEFICIENCY ANEMIA; IRRITABILITY; LEUKOCYTE COUNT; LIPODYSTROPHY; MALE; NEUTROPHIL CHEMOTAXIS; NEUTROPHILIA; PAPULAR RASH; PERICARDITIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PRURITUS; REMISSION; SKIN BIOPSY; SKIN DEFECT; SKIN DISEASE; SKIN EDEMA; SPLENOMEGALY; SYNDROME; THROMBOCYTOSIS; TREATMENT DURATION; ACUTE FEBRILE NEUTROPHILIC DERMATOSIS; BODY TEMPERATURE; CHRONIC DISEASE; DNA MUTATIONAL ANALYSIS; GENETICS; MAJOR HISTOCOMPATIBILITY COMPLEX; METABOLISM; MUTATION; PATHOPHYSIOLOGY;

BODY TEMPERATURE; CHILD, PRESCHOOL; CHRONIC DISEASE; DNA; DNA MUTATIONAL ANALYSIS; FEVER; HUMANS; LIPODYSTROPHY; MAJOR HISTOCOMPATIBILITY COMPLEX; MALE; MUTATION; PROTEASOME ENDOPEPTIDASE COMPLEX; SWEET SYNDROME;

EID: 84946924864     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-015-2668-4     Document Type: Article

References (14)

1. Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K, Tang ML (2014) Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 5:162. doi:10.3389/fimmu.2014.00162
2. Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, Montealegre G, Biancotto A, Reinhardt A, Almeida de Jesus A, Pelletier M, Tsai WL, Remmers EF, Kardava L, Hill S, Kim H, Lachmann HJ, Megarbane A, Chae JJ, Brady J, Castillo RD, Brown D, Casano AV, Gao L, Chapelle D, Huang Y, Stone D, Chen Y, Sotzny F, Lee CR, Kastner DL, Torrelo A, Zlotogorski A, Moir S, Gadina M, McCoy P, Wesley R, Rother K, Hildebrand PW, Brogan P, Kruger E, Aksentijevich I, Goldbach-Mansky R (2015) Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest 125:4196–4211. doi:10.1172/JCI81260
3. Goldbach-Mansky R (2012) Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1. Clin Exp Immunol 167:391–404. doi:10.1111/j.1365-2249.2011.04533.x
4. Gomes AV (2013) Genetics of proteasome diseases. Scientifica 2013:637629. doi:10.1155/2013/637629
5. Gonul M, Cevirgen Cemil B, Keseroglu HO, Kaya Akis H (2014) New described dermatological disorders. Biomed Res Int 2014:616973. doi:10.1155/2014/616973
6. Infevers: an online database for autoinflammatory mutations. Copyright. Available at http://fmf.igh.cnrs.fr/ISSAID/infevers/. Accessed 05/15 2013
7. Jesus AA, Fujihira E, Watase M, Terreri MT, Hilario MO, Carneiro-Sampaio M, Len CA, Oliveira SK, Rodrigues MC, Pereira RM, Bica B, Silva NA, Cavalcanti A, Marini R, Sztajnbok F, Quintero MV, Ferriani VP, Moraes-Vasconcelos D, Silva CA, Oliveira JB (2012) Hereditary autoinflammatory syndromes: a Brazilian multicenter study. J Clin Immunol 32:922–932. doi:10.1007/s10875-012-9688-x
8. Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, Toyoshima Y, Takahashi H, Standley DM, Tanaka K, Hamazaki J, Murata S, Obara K, Toyoshima I, Yasutomo K (2011) A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest 121:4150–4160. doi:10.1172/JCI58414
9. Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A (2012) Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum 64:895–907. doi:10.1002/art.33368
10. McDermott A, Jacks J, Kessler M, Emanuel PD, Gao L (2015) Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management. Int J Dermatol 54:121–129. doi:10.1111/ijd.12695
11. Sanchez GA, de Jesus AA, Goldbach-Mansky R (2013) Monogenic autoinflammatory diseases: disorders of amplified danger sensing and cytokine dysregulation. Rheum Dis Clin N Am 39:701–734. doi:10.1016/j.rdc.2013.08.001
12. Torrelo A, Patel S, Colmenero I, Gurbindo D, Lendinez F, Hernandez A, Lopez-Robledillo JC, Dadban A, Requena L, Paller AS (2010) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol 62:489–495. doi:10.1016/j.jaad.2009.04.046
13. Tripathi SV, Leslie KS (2013) Autoinflammatory diseases in dermatology: CAPS, TRAPS, HIDS, FMF, Blau, CANDLE. Dermatol Clin 31:387–404. doi:10.1016/j.det.2013.04.005
14. Tufekci O, Bengoa S, Karapinar TH, Ataseven EB, Irken G, Oren H (2015) CANDLE syndrome: a recently described autoinflammatory syndrome. J Pediatr Hematol Oncol 37:296–299. doi:10.1097/MPH.0000000000000212