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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature
Author(s) -
Kluk J.,
Rustin M.,
Brogan P.A.,
Omoyinmi E.,
Rowczenio D.M.,
Willcocks L.C.,
Melly L.,
Lachmann H.J.
Publication year - 2014
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.12600
Subject(s) - lipodystrophy , neutrophilic dermatosis , medicine , dermatology , mutation , pathology , disease , genetics , immunology , biology , gene , pyoderma gangrenosum , human immunodeficiency virus (hiv) , viral load , antiretroviral therapy
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a report of a novel mutation and review of the literature DOI: 10.1111/bjd.12600 DEAR EDITOR, Chronic atypical neutrophilic dermatosis with lip-odystrophy and elevated temperature (CANDLE) syndrome is a new autoinflammatory syndrome caused by mutations in the gene for proteasome subunit, beta type, 8 (PSMB8). We report a young adult with a novel homozygous PSMB8 mutation and marked skin disease. A 22-year-old Bangladeshi woman was referred to the National Amyloidosis Centre, having been unwell since infancy with episodes occurring every 3–4 weeks for up to 7 days. She reported a fever of up to 42 °C associated wit