CANDLE syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = CANDLE syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = CANDLE syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature | |||
| pronounce = | |||
| specialty = [[Rheumatology]], [[Genetics]] | |||
| symptoms = [[Fever]], [[skin rash]], [[lipodystrophy]], [[joint contractures]], [[muscle weakness]] | |||
| onset = Infancy | |||
| duration = Lifelong | |||
| causes = Mutations in the [[PSMB8]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Neonatal-onset multisystem inflammatory disease]], [[SAVI syndrome]] | |||
| treatment = [[Corticosteroids]], [[immunosuppressive drugs]], [[biologic agents]] | |||
| prognosis = Variable, can be severe | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare autoinflammatory genetic disorder}} | {{Short description|A rare autoinflammatory genetic disorder}} | ||
'''CANDLE syndrome''' (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature) is a rare [[autoinflammatory disease]] characterized by recurrent fevers, skin rashes, and joint pain. It is caused by mutations in the [[PSMB8]] gene and is inherited in an [[autosomal recessive]] manner. | '''CANDLE syndrome''' (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature) is a rare [[autoinflammatory disease]] characterized by recurrent fevers, skin rashes, and joint pain. It is caused by mutations in the [[PSMB8]] gene and is inherited in an [[autosomal recessive]] manner. | ||
==Genetics== | ==Genetics== | ||
[[File:Autosomal_recessive_-_en.svg|thumb | [[File:Autosomal_recessive_-_en.svg|left|thumb|Diagram of autosomal recessive inheritance.]] | ||
CANDLE syndrome is associated with mutations in the [[PSMB8]] gene, which encodes a component of the immunoproteasome. This gene is located on chromosome 6. The syndrome follows an [[autosomal recessive]] pattern of inheritance, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. | CANDLE syndrome is associated with mutations in the [[PSMB8]] gene, which encodes a component of the immunoproteasome. This gene is located on chromosome 6. The syndrome follows an [[autosomal recessive]] pattern of inheritance, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. | ||
==Clinical Features== | ==Clinical Features== | ||
Patients with CANDLE syndrome typically present in infancy or early childhood. The main clinical features include: | Patients with CANDLE syndrome typically present in infancy or early childhood. The main clinical features include: | ||
* Recurrent fevers | * Recurrent fevers | ||
* Skin rashes, often with a neutrophilic dermatosis appearance | * Skin rashes, often with a neutrophilic dermatosis appearance | ||
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* Joint pain and swelling | * Joint pain and swelling | ||
* Muscle weakness | * Muscle weakness | ||
==Pathophysiology== | ==Pathophysiology== | ||
The [[PSMB8]] gene mutations lead to a dysfunctional immunoproteasome, which is crucial for the degradation of proteins and the regulation of the immune response. The impaired function results in the accumulation of protein aggregates and an inappropriate inflammatory response, contributing to the symptoms of CANDLE syndrome. | The [[PSMB8]] gene mutations lead to a dysfunctional immunoproteasome, which is crucial for the degradation of proteins and the regulation of the immune response. The impaired function results in the accumulation of protein aggregates and an inappropriate inflammatory response, contributing to the symptoms of CANDLE syndrome. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of CANDLE syndrome is based on clinical presentation, family history, and genetic testing to identify mutations in the [[PSMB8]] gene. Laboratory tests may show elevated inflammatory markers and abnormal immune cell function. | Diagnosis of CANDLE syndrome is based on clinical presentation, family history, and genetic testing to identify mutations in the [[PSMB8]] gene. Laboratory tests may show elevated inflammatory markers and abnormal immune cell function. | ||
==Treatment== | ==Treatment== | ||
There is no cure for CANDLE syndrome, and treatment is primarily supportive. Management strategies include: | There is no cure for CANDLE syndrome, and treatment is primarily supportive. Management strategies include: | ||
* Anti-inflammatory medications, such as corticosteroids | * Anti-inflammatory medications, such as corticosteroids | ||
* Immunosuppressive agents | * Immunosuppressive agents | ||
* Biologic therapies targeting specific inflammatory pathways | * Biologic therapies targeting specific inflammatory pathways | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with CANDLE syndrome varies. Early diagnosis and management can improve quality of life, but the condition can be chronic and debilitating. | The prognosis for individuals with CANDLE syndrome varies. Early diagnosis and management can improve quality of life, but the condition can be chronic and debilitating. | ||
==See also== | |||
== | |||
* [[Autoinflammatory disease]] | * [[Autoinflammatory disease]] | ||
* [[Lipodystrophy]] | * [[Lipodystrophy]] | ||
* [[Neutrophilic dermatosis]] | * [[Neutrophilic dermatosis]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Autoinflammatory syndromes]] | [[Category:Autoinflammatory syndromes]] | ||
Latest revision as of 21:10, 4 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| CANDLE syndrome | |
|---|---|
| |
| Synonyms | Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature |
| Pronounce | |
| Specialty | Rheumatology, Genetics |
| Symptoms | Fever, skin rash, lipodystrophy, joint contractures, muscle weakness |
| Complications | N/A |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the PSMB8 gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Neonatal-onset multisystem inflammatory disease, SAVI syndrome |
| Prevention | N/A |
| Treatment | Corticosteroids, immunosuppressive drugs, biologic agents |
| Medication | N/A |
| Prognosis | Variable, can be severe |
| Frequency | Rare |
| Deaths | N/A |
A rare autoinflammatory genetic disorder
CANDLE syndrome (Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature) is a rare autoinflammatory disease characterized by recurrent fevers, skin rashes, and joint pain. It is caused by mutations in the PSMB8 gene and is inherited in an autosomal recessive manner.
Genetics[edit]
CANDLE syndrome is associated with mutations in the PSMB8 gene, which encodes a component of the immunoproteasome. This gene is located on chromosome 6. The syndrome follows an autosomal recessive pattern of inheritance, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.
Clinical Features[edit]
Patients with CANDLE syndrome typically present in infancy or early childhood. The main clinical features include:
- Recurrent fevers
- Skin rashes, often with a neutrophilic dermatosis appearance
- Lipodystrophy, which is the abnormal distribution of body fat
- Joint pain and swelling
- Muscle weakness
Pathophysiology[edit]
The PSMB8 gene mutations lead to a dysfunctional immunoproteasome, which is crucial for the degradation of proteins and the regulation of the immune response. The impaired function results in the accumulation of protein aggregates and an inappropriate inflammatory response, contributing to the symptoms of CANDLE syndrome.
Diagnosis[edit]
Diagnosis of CANDLE syndrome is based on clinical presentation, family history, and genetic testing to identify mutations in the PSMB8 gene. Laboratory tests may show elevated inflammatory markers and abnormal immune cell function.
Treatment[edit]
There is no cure for CANDLE syndrome, and treatment is primarily supportive. Management strategies include:
- Anti-inflammatory medications, such as corticosteroids
- Immunosuppressive agents
- Biologic therapies targeting specific inflammatory pathways
Prognosis[edit]
The prognosis for individuals with CANDLE syndrome varies. Early diagnosis and management can improve quality of life, but the condition can be chronic and debilitating.
