Rare Endocrinology News
5 Facts you should know about
CANDLE syndrome
1
CANDLE Syndrome (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature) is an autoinflammatory disorder characterized by early-onset recurrent fevers, skin lesions, lipodystrophy, and systemic inflammation
2
It typically begins in early childhood, with symptoms including persistent fevers, joint stiffness, skin rashes, and progressive loss of subcutaneous fat, leading to a distinctive facial appearance and body shape
3
CANDLE Syndrome is caused by mutations in genes involved in the regulation of type I interferon signaling, contributing to the activation of the immune system and chronic inflammation
4
Diagnosis involves clinical evaluation, skin biopsies to identify specific histopathological changes, and genetic testing to confirm mutations related to interferonopathies
5
Treatment aims to manage symptoms and reduce inflammation using corticosteroids, disease-modifying antirheumatic drugs (DMARDs), and biologic agents targeting the overactive immune response
Rare Endocrinology News
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