CANDLE-LIKE SYNDROME: CLINICAL OBSERVATION

Abstract

The article provides information about a 1-year and 5-month-old girl with one of the rare pathologies – CANDLE-like syndrome (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature). The patient underwent a comprehensive clinical-immunological laboratory and instrumental examination. Genetic analysis of the PSMB4, PSMB8, PSMB9, and PSMA3 genes was conducted, but these genes were not detected. However, considering that all clinical signs and the course of the disease are similar to CANDLE syndrome, the patient was diagnosed with CANDLE-like syndrome. The article briefly outlines information about CANDLE syndrome, which is caused by a non-specific immune mechanism and, in some cases, as a result of a specific immune regulation disorder, transmitted in an autosomal recessive manner. Alongside this, the article presents a case observed in the author's practice. The study of this disease is of great practical importance due to the typical features of its clinical symptoms, the complexity of diagnosis, and treatment.