CANDLE syndrome: A rare case report documented for the first time in the Middle East

CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature) is an autoinflammatory disorder characterized by recurrent fever, skin lesions, and other symptoms caused by a mutation in the PSMB8 gene.

This case report aims to describe the clinical features of a 3-year-old male patient with this syndrome. The patient, of Syrian origin, presented with recurrent fever and widespread skin lesions since the age of 7 months. There was a family history of similar skin lesions. On examination, erythematous eruptions and generalized lymphadenopathy were noted.

Genetic studies confirmed a homozygous nonsense mutation in PSMB8, a diagnostic of CANDLE syndrome. The patient showed symptomatic improvement with oral prednisolone.

The mutation associated with CANDLE syndrome is in PSMB8 (proteasome subunit β type 8), activated by interferon γ, and produces cytokines.

This case is significant as it is the first reported CANDLE syndrome in Syria and the Middle East.

We highlight the variability in symptoms and responses to treatment and emphasize the noticeable improvement observed following treatment with corticosteroids alone.