Chloe Adams
CANDLE syndrome, or chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, is a rare autoinflammatory disease that usually manifests in infancy. As of 2015, there have been approximately 30 reported cases, while other sources claim there are only 60 known cases worldwide. The disease is caused by a mutation in the PSMB8 gene, which results in the buildup of protein waste products and subsequent cell malfunction. Symptoms of CANDLE syndrome include skin lesions, lipodystrophy, fevers, joint pain, muscle wasting, and abnormal fat loss. Treatments for CANDLE syndrome include physical therapy, nutrition therapy, and targeted organ therapies.
| Characteristics | Values |
|---|---|
| Type | Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome |
| Disorder Type | Autosomal recessive disorder |
| Symptoms | Various autoinflammatory responses throughout the body, multiple types of skin lesions, recurrent long-term fever symptoms, swollen eyelids, joint pain, developmental delays, enlarged livers, high levels of liver enzymes, chronic anemia, low height and weight, fat loss, muscle contractures and stiffness, muscle wasting, abnormal fat loss, seizures, meningitis, meningoencephalitis, chronic inflammation in the CNS, basal ganglia calcifications, multi-organ inflammation, acute sterile epididymitis, conjunctivitis, nodular episcleritis, parotitis, pneumonitis, nephritis, carditis, otitis |
| Cause | Mutation in the PSMB8 gene or mutations in other closely related genes |
| Number of Cases | 60 known cases worldwide, fewer than 100 cases reported |
| Diagnosis | Genetic testing, skin biopsy, blood tests, imaging |
| Treatment | Physical therapy, nutrition therapy, treatments targeted towards affected organs, regular clinical follow-ups, joint, eye, and skin exams |
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What You'll Learn
CANDLE syndrome is a rare autoinflammatory disease
CANDLE syndrome, or Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome, is a rare autoinflammatory disease that typically manifests in infants within the first year of life. It is characterised by a range of symptoms, including skin lesions, recurrent fevers, joint pain, muscle stiffness, and abnormal fat loss. The syndrome is caused by mutations in the PSMB8 gene, which result in the buildup of protein waste products and subsequent malfunction of other cells.
As of 2015, there have been approximately 30 reported cases of CANDLE syndrome in the scientific literature. However, according to the Autoinflammatory Alliance, there are only around 60 known cases worldwide, making it an exceptionally rare condition. The rarity of the disease presents challenges in understanding risk factors and prognosis, but early intervention is crucial for improving patients' quality of life and increasing life expectancy.
The symptoms of CANDLE syndrome can vary between patients, but they often include characteristic skin lesions, early-onset fevers, joint pain, developmental delays, swollen eyelids, progressive fat loss, muscle contractures, and muscle wasting. Some patients may also experience enlarged livers, high levels of liver enzymes, chronic anemia, and low height and weight. The variability of symptoms can make diagnosis challenging, and genetic testing is currently the most definitive method of confirmation. Skin biopsies and advanced imaging techniques may also aid in diagnosis.
Treatment for CANDLE syndrome aims to manage pain and symptoms, improve quality of life, and prevent high-risk complications such as multi-organ inflammation. Physical therapy and nutrition therapy are often employed to prevent joint contractures and optimise growth, respectively. Other targeted therapies may be directed at affected organs to address specific complications. Regular clinical follow-ups, including joint, eye, and skin examinations, are essential to monitor inflammatory attacks and adjust treatments accordingly.
While the rarity of CANDLE syndrome poses challenges in research and patient care, dedicated providers at specialised centres, such as the UPMC Children's Hospital of Pittsburgh, are committed to providing cutting-edge treatments and improving outcomes for children with this rare autoinflammatory disease.
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It often starts in infancy, causing fevers and skin lesions
CANDLE syndrome, or chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, is a rare autoinflammatory disease that usually starts in infancy. It is characterised by recurrent fevers, skin lesions, and multisystemic inflammatory manifestations. The syndrome was first named and classified in 2010 after four patients were reviewed with similar symptoms. As of 2015, there have been approximately 30 cases reported in the scientific literature, and 60 known cases worldwide.
The disease typically forms within the first year of a child's life, with signs and symptoms varying from child to child. Many of the symptoms of CANDLE syndrome cause pain and discomfort. Children with CANDLE syndrome may experience joint pain, developmental delays, swollen eyelids, muscle stiffness, and muscle wasting. They may also present with abnormal fat loss in the face, neck, chest, arms, and belly.
The most common cause of CANDLE syndrome is a mutation in the Proteasome Subunit, Beta Type, 8 (PSMB8) gene, which codes for proteasomes that break down other proteins. This mutation results in the proteins not being degraded and oxidative proteins building up in cellular tissues, leading to apoptosis, particularly in muscle and fat cells. Other mutations that can cause CANDLE syndrome include PSMA3 (encodes α7), PSMB4 (encodes β7), PSMB9 (encodes β1i), and the proteasome maturation protein (POMP).
CANDLE syndrome is typically diagnosed through a clinical exam, with blood tests, imaging, and skin lesion biopsies aiding in diagnosis. Genetic testing is currently the only way to confirm a CANDLE syndrome diagnosis. Treatments for CANDLE syndrome may include physical therapy to prevent joint contractures and nutrition therapy to optimise growth. Other therapies may be targeted toward affected organs. Early diagnosis and intervention are important, as they may improve a child's quality of life and increase life expectancy.
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It is caused by a mutation in the PSMB8 gene
CANDLE syndrome, or Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature syndrome, is a rare autoinflammatory disorder that typically manifests in infants. The syndrome is caused by a mutation in the PSMB8 gene, which provides instructions for making one part (subunit) of cell structures called immunoproteasomes. This mutation results in a buildup of protein waste products and causes other cells to malfunction, leading to autoinflammation and lipodystrophy.
The PSMB8 gene normally codes for proteasomes, which are responsible for breaking down other proteins. However, when a mutation occurs, it causes the homozygous recessive form to emerge, resulting in proteins not being degraded and oxidative proteins building up in cellular tissues. This buildup of proteins can lead to apoptosis, especially in muscle and fat cells. The specific mutation associated with CANDLE syndrome replaces the amino acid cysteine with a signal to stop protein production prematurely, greatly reducing protein production from the PSMB8 gene.
The syndrome was first named and classified in March 2010 after four patients presented with similar symptoms. As of 2015, there have been approximately 30 cases reported in the scientific literature, with 60 known cases worldwide according to the Autoinflammatory Alliance. The rarity of the condition means that more research is needed to fully understand the risk factors and prognosis. However, early intervention is key to improving a child's quality of life and increasing life expectancy, as the risk of organ inflammation is high.
In addition to CANDLE syndrome, mutations in the PSMB8 gene have also been implicated in other syndromes, including Nakajo-Nishimura syndrome (NKJO) and Joint contractures, Muscular Atrophy, Microcytic anemia, and Panniculitis-induced Lipodystrophy (JMP) syndrome. These syndromes share some overlapping features with CANDLE syndrome, such as skin lesions, joint problems, and fever. However, they also have distinct differences, such as the lack of fever in JMP syndrome and the lack of seizures in NKJO syndrome.
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Symptoms vary but can include joint pain, muscle wasting, and fat loss
CANDLE syndrome, or chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome, is a rare autoinflammatory disease that usually starts in infancy, within the first year of life. It is caused by a mutation in the PSMB8 gene, which results in the buildup of protein waste products and the malfunction of other cells. This mutated gene causes proteins to not be degraded and oxidative proteins to build up in cellular tissues, leading to apoptosis, especially in muscle and fat cells.
Symptoms of CANDLE syndrome vary from child to child but often include joint pain, muscle wasting, and fat loss. Joint pain and muscle stiffness can lead to contractures, or the tightening of muscles, tendons, joints, ligaments, or skin that restricts movement. Physical therapy can help prevent these contractures. Patients may also experience joint and limb pain, developmental delays, swollen eyelids, and recurrent fevers.
Fat loss, or lipodystrophy, in patients with CANDLE syndrome can be progressive and affect the face, neck, chest, arms, and belly. Abnormal fat loss is one of the defining symptoms of CANDLE syndrome. This fat loss is related to the syndrome's impact on lipodystrophy, or the abnormal distribution of body fat.
As CANDLE syndrome is a rare disease with only 60 known cases worldwide, more research is needed to understand the range of symptoms and develop treatments. Early diagnosis and intervention are critical to improving quality of life and increasing life expectancy, as the risk of organ inflammation is high.
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Treatments include physical therapy and nutrition therapy
CANDLE syndrome is an extremely rare autoinflammatory disorder, with only 60 known cases worldwide. It is a new and rare condition, typically diagnosed among infants, with symptoms manifesting within the first year of life. The syndrome is caused by a mutation in the PSMB8 gene, leading to a buildup of protein waste products and causing other cells to malfunction. The symptoms of CANDLE syndrome vary from child to child but often include skin lesions, joint pain, developmental delays, recurrent fevers, swollen eyelids, abnormal fat loss, muscle wasting, and enlarged livers.
Given the rarity of the syndrome, more research is needed to fully understand risk factors and develop standard treatments. However, early diagnosis and intervention are critical to improving a child's quality of life and increasing life expectancy, as the risk of organ inflammation is high. Treatments are tailored to each patient and focus on managing pain and symptoms, preventing high-risk complications, and optimizing growth.
Physical Therapy
Physical therapy is one of the key treatments for CANDLE syndrome. It helps to prevent joint contractures, which are a common symptom of the syndrome, and can improve mobility and flexibility. Physical therapy can also help to manage the pain and discomfort associated with the syndrome. This may include exercises, stretches, and other physical activities specifically designed to target the joints and improve overall movement and function.
Nutrition Therapy
Nutrition therapy is another important aspect of treating CANDLE syndrome. Given that children with the syndrome often experience abnormal fat loss, chronic anemia, and low height and weight, nutritional interventions are crucial to optimizing growth and ensuring proper development. This may involve working with a dietitian or nutritionist to develop a specialized diet plan that meets the unique needs of each patient.
In addition to physical and nutrition therapy, medications such as corticosteroids and methotrexate are commonly used to reduce inflammation. Doctors may also recommend regular clinical follow-ups, including joint, eye, and skin exams, to monitor inflammatory attacks and adjust treatments as needed. Early diagnosis and a combination of these treatments can greatly improve the quality of life for children with CANDLE syndrome.
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