CANDLE syndrome: an extended clinical spectrum

Wang, Hao; Das, Lena; Tiong, Justin Tan Hung; Vasanwala, Rashida Farhad; Arkachaisri, Thaschawee

doi:10.1093/rheumatology/keu298

Cited by 14 publications

(15 citation statements)

References 6 publications

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“…Several reports expand the spectrum of the clinical and histological findings with more variables and novel gene mutations; one patient with CANDLE syndrome had no mutations, which probably emphasizes the phenotypic variation and genetic heterogeneity underlying this syndrome. [14][15][16][17] SLE is the prototypical model of autoimmune diseases. It is a complex disease with heterogeneous presentations and chronic unpredictable, relapsingremitting course.…”

Section: Discussionmentioning

confidence: 99%

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

et al. 2017

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Objective: To report the clinical and genetic features of the first cases of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome in an Arab population and to compare them with patients of C1q deficient systemic lupus erythematosus (SLE). Materials and Methods:This is a retrospective case series of patients with CANDLE syndrome and C1q deficient SLE seen at a single tertiary hospital. Medical records were reviewed for demographic data, clinical and laboratory features, histopathology and imaging findings, and response to therapeutic intervention. Descriptive data were summarized.

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Section: Discussionmentioning

confidence: 99%

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

et al. 2017

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“…The histological findings of an atypical mixed myeloid, neutrophilic and histiocytic infiltrate are highly specific and may alert to diagnosis . The course of the disease is variable, including some cases with fatal outcome; however, our patient's condition seems to be stable with little impact on her daily life …”

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confidence: 73%

Fever, lipodystrophy and cutaneous lesions

et al. 2017

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“…Fat loss is a key manifestation of CANDLE ( 1 , 3 , 30 – 32 ). It can be seen in most patients before the age of two, but it is progressive and may take some years to become fully developed.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…Patients with CANDLE have a mild to moderate growth delay and show low weight and height ( 1 , 30 – 32 ). Chronic inflammation may explain this physical delay, but muscle wasting and lipoatrophy are also major contributors.…”

Section: Clinical Featuresmentioning

confidence: 99%

“…Arthralgias are very common in children with CANDLE, but patients do not show radiologic features of arthritis. Some joint swelling can appear in the interphalangeal joints, but the absence of overt arthritis distinguishes CANDLE from rheumatoid arthritis or juvenile idiopathic arthritis ( 1 , 30 – 32 ). With time, hyperextensibility of interphalangeal joints can occur, and during adulthood, most patients will develop variable degrees of joint contractures on the hands and feet, which are often severely disabling ( 4 ).…”

Section: Clinical Featuresmentioning

confidence: 99%

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CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

Torrelo

2017

Front. Immunol.

107

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CANDLE syndrome (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature) is a rare, genetic autoinflammatory disease due to abnormal functioning of the multicatalytic system proteasome–immunoproteasome. Several recessive mutations in different protein subunits of this system, located in one single subunit (monogenic, homozygous, or compound heterozygous) or in two different ones (digenic and compound heterozygous), cause variable defects in catalytic activity of the proteasome–immunoproteasome. The final result is a sustained production of type 1 interferons (IFNs) that can be very much increased by banal triggers such as cold, stress, or viral infections. Patients start very early in infancy with recurrent or even daily fevers, characteristic skin lesions, wasting, and a typical fat loss, all conferring the patients a unique and unmistakable phenotype. So far, no treatment has been effective for the treatment of CANDLE syndrome; the JAK inhibitor baricitinib seems to be partially helpful. In this article, a review in depth all the pathophysiological, clinical, and laboratory features of CANDLE syndrome is provided.

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CANDLE syndrome: an extended clinical spectrum

Cited by 14 publications

References 6 publications

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

Fever, lipodystrophy and cutaneous lesions

CANDLE Syndrome As a Paradigm of Proteasome-Related Autoinflammation

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