Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: A report of a novel mutation and review of the literature

British Journal of Dermatology

Volumn 170, Issue 1, 2014, Pages 215-217

  Kluk, J ^a   Rustin, M ^a   Brogan, P A ^b   Omoyinmi, E ^b   Rowczenio, D M ^c   Willcocks, L C ^d   Melly, L ^a   Lachmann, H J ^c  

^a ROYAL FREE LONDON NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^d CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLCHICINE; PREDNISOLONE; PROTEASOME; PROTEASOME SUBUNIT BETA TYPE 8 PROTEIN; TOCILIZUMAB; UNCLASSIFIED DRUG; LMP7 PROTEIN;

ADULT; AUTOINFLAMMATORY DISEASE; CASE REPORT; CHRONIC ATYPICAL NEUTROPHILIC DERMATOSIS WITH LIPODYSTROPHY AND ELEVATED TEMPERATURE SYNDROME; CLINICAL EXAMINATION; FEMALE; FEVER; GENE MUTATION; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; LABORATORY TEST; LETTER; LIPODYSTROPHY; NEUTROPHIL; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PRIORITY JOURNAL; PUNCH BIOPSY; SKIN DISEASE; TREATMENT OUTCOME; TREATMENT RESPONSE; YOUNG ADULT; ACUTE FEBRILE NEUTROPHILIC DERMATOSIS; CHRONIC DISEASE; GENETICS; MUTATION; PEDIGREE;

CHRONIC DISEASE; FEMALE; HUMANS; LIPODYSTROPHY; MUTATION; PEDIGREE; PROTEASOME ENDOPEPTIDASE COMPLEX; SWEET SYNDROME; YOUNG ADULT;

EID: 84892415306     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12600     Document Type: Letter

References (6)

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, et al,. 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 β 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. Arima K, Kinoshita A, Mishima H, et al,. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci USA 2011; 108: 14914-19.
5. 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.
6. Agarwal AK, Xing C, DeMartino GN, et al,. PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet 2010; 87: 866-72.