hrp0086p1-p695 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

CANDLE Syndrome: A New Autoinflammatory Lipodystrophic Disorder with Challenging Diagnosis and Limited Therapeutic Options

Boyadzhiev Martin , Boyadzhiev Veselin , Marinov Luchezar , Iotova Violeta

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 inve...