Candle syndrome: An extended clinical spectrum

Rheumatology (United Kingdom)

Volumn 53, Issue 11, 2014, Pages 2119-2120

  Wang, Hao ^a   Das, Lena ^b   Tiong, Justin Tan Hung ^b   Vasanwala, Rashida F ^c   Arkachaisri, Thaschawee ^a,b  

^a DUKE NUS MEDICAL SCHOOL   (Singapore)

^b Rheumatology and Immunology Service Department of Paediatric Subspecialties   (Singapore)

^c KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CANAKINUMAB; CYCLOSPORIN A; ETANERCEPT; GLUCOSE; HEMOGLOBIN; IRON; METHYLPREDNISOLONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; THALIDOMIDE; THYROTROPIN; TOCILIZUMAB;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALOPECIA; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUTOINFLAMMATORY DISEASE; BASAL GANGLION; BODY TEMPERATURE DISORDER; BONE MARROW BIOPSY; BRAIN CALCIFICATION; CASE REPORT; CAUSE OF DEATH; CHILD; CHILDHOOD MORTALITY; CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME; CHRONIC DISEASE; CINCA SYNDROME; CLINICAL FEATURE; CLINICAL TRIAL (TOPIC); CORTICOSTEROID THERAPY; DIABETES MELLITUS; DIABETIC KETOACIDOSIS; EPILEPTIC STATE; ERYTHROCYTE SEDIMENTATION RATE; FAILURE TO THRIVE; FEMALE; FREE THYROXINE INDEX; GLUCOSE INTOLERANCE; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; HYPERTRIGLYCERIDEMIA; HYPOTHYROIDISM; IRON DEFICIENCY ANEMIA; IRON THERAPY; JOINT CONTRACTURE; LETTER; LIPODYSTROPHY; MACROPHAGE ACTIVATION SYNDROME; MEAN CORPUSCULAR VOLUME; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOUTH EDEMA; MULTIPLE ORGAN FAILURE; MUSCLE ATROPHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCREATITIS; PNEUMONIA; REPEAT PROCEDURE; SCHOOL CHILD; SEPTIC SHOCK; SKIN BIOPSY; SKIN DISEASE; SUBARACHNOID HEMORRHAGE; SYNDROME; TONIC CLONIC SEIZURE; WHITE MATTER;

EID: 84911481308     PISSN: 14620324     EISSN: 14620332     Source Type: Journal    
DOI: 10.1093/rheumatology/keu298     Document Type: Letter

References (7)

1. Torrelo A, Patel S, Colmenero I et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol 2010;62:489-95.
2. Ramot Y, Czarnowicki T, Maly A, Navon-Elkan P, Zlotogorski A. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report. Pediatr Dermatol 2011;28:538-41.
3. Liu Y, Ramot Y, Torrelo A et al. Mutations in proteasome subunit b type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum 2012;64:895-907.
4. Garg A, Hernandez MD, Sousa AB et al. An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. J Clin Endocrinol Metab 2010;95:E58-63.
5. Agarwal AK, Xing C, DeMartino GN et al. PSMB8 encoding the b5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet 2010;87:866-72.
6. Deng GY, Muir A, Maclaren NK, She JX. Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies. Am J Hum Genet 1995;56: 528-34.
7. Kunimoto K, Kimura A, Uede K et al. A new infant case of Nakajo-Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations. Dermatology 2013;227:26-30.