Medicine · 2025
CANDLE syndrome: A rare case report documented for the first time in the Middle East.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Alhiraki Hind, Hamdi Mohammad, Alhiraki Hossam, Alhiraki Ismail
Аннотация
RATIONALE: 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.
PATIENT CONCERNS: 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.
DIAGNOSES: Genetic studies confirmed a homozygous nonsense mutation in PSMB8, a diagnostic of CANDLE syndrome. The patient showed symptomatic improvement with oral prednisolone.
INTERVENTIONS: The mutation associated with CANDLE syndrome is in PSMB8 (proteasome subunit β type 8), activated by interferon γ, and produces cytokines.
OUTCOMES: This case is significant as it is the first reported CANDLE syndrome in Syria and the Middle East.
LESSONS: We highlight the variability in symptoms and responses to treatment and emphasize the noticeable improvement observed following treatment with corticosteroids alone.
PATIENT CONCERNS: 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.
DIAGNOSES: Genetic studies confirmed a homozygous nonsense mutation in PSMB8, a diagnostic of CANDLE syndrome. The patient showed symptomatic improvement with oral prednisolone.
INTERVENTIONS: The mutation associated with CANDLE syndrome is in PSMB8 (proteasome subunit β type 8), activated by interferon γ, and produces cytokines.
OUTCOMES: This case is significant as it is the first reported CANDLE syndrome in Syria and the Middle East.
LESSONS: We highlight the variability in symptoms and responses to treatment and emphasize the noticeable improvement observed following treatment with corticosteroids alone.