Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) Syndrome is a rare auto-inflammatory syndrome.
CANDLE is one of the Proteasome-Associated Autoinflammatory Syndromes (PRASS).
Chromosome location: 6p21.32
Gene: PSMB8 (proteasome subunit beta 8)
Inheritance: autosomal recessive
Key findings:
(1) recurrent fevers starting during infancy
(2) widespread purpuric/erythematous skin lesions
(3) progressive lipodystrophy and panniculitis
Additional findings may include:
(1) insulin-resistant diabetes mellitus
(2) CNS calcifications (basal ganglia and other sites)
(3) early onset joint contractures
(4) lymphadenopathy
(5) hepatosplenomegaly
(6) autoimmune hemolytic anemia
(7) short stature
(8) microdontia and diastema
(9) immunosuppression with recurrent infection
(10) hypertrophic pulmonary osteodystrophy (clubbing)
(11) muscle atrophy
(12) mild mental retardation
(13) macroglossia
(14) coarse facial features with flat nasal bridge and microstomia
