Background: We present a 3 years old boy born on term from young non-consanguineous parents with negative family history. Shortly after birth swelling of the feet and multiple generalised erythematous cutaneous plaques and nodules gradually appeared. Recurrent fever attacks, hepatosplenomegaly, significant growth delay (height 4.0 S.D.) and progressive loss of subcutaneus fat tissue followed.
Objective and hypotheses: Laboratory investigations found anaemia, thrombocytopenia, elevated leucocytes count and CRP levels. Bone marrow samples were not diagnostic and skin biopsy revealed allergic vasculitis. The immunological tests showed slightly elevated pANCA and cANCA, but normal ANA, IgG, IgA, IgM, IgE, C3, C4, AST and WR.
Method: In the differential diagnosis a list of dermatologic, inflammatory, hematologic, systemic and allergic disorders were taken into consideration. The treatment attempts included the usage of corticosteroids, resorchin, methotrexate, with a little or no effect.
Results: CANDLE syndrome a chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature was suspected and later on genetically proven in NIH, USA. This is a newly described autoinflammatory disease with presentation shortly after birth. It is inherited in an autosomal recessive way and is due, in most cases, to mutations in the proteasome subunit, beta type, 8 (PSMB8) gene (6p21.3) that lead to dysregulation of the IFN pathway.
Conclusion: The CANDLE syndrome is another example of autoinflammatory disorder affecting the subcutaneous fat tissue. At the moment various treatments have been proposed with dubious effect, but experiments with JAK inhibitors show some promises.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology