DEAR EDITOR, Chronic atypical neutrophilic dermatosis with lipodystrophy 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 with rigors and a red, raised, painful and itchy cutaneous eruption. Other features included pleuritic chest pain, arthralgia, mouth ulcers and painful cervical lymphadenopathy. Our patient is the eighth of nine children. Her father died in 2006 of cancer and her mother is well. Her five older brothers and a sister are healthy. Two sisters died, aged 17 and 5 years, in Bangladesh, of a similar illness characterized by fevers, rigors, rash and poor weight gain and growth (Fig. 1a). On examination, she was small and thin at 38 kg, with very wasted muscles, facial lipodystrophy and hypertrichosis of the forehead. Her lips were full and there was marked erythema