About CINCA syndrome

What is CINCA syndrome?

CINCA syndrome, also known as chronic infantile neurological cutaneous and articular syndrome, is a rare genetic disorder that affects the skin, joints, and nervous system. It is characterized by chronic inflammation of the skin, joints, and other organs, as well as neurological problems such as seizures, developmental delays, and intellectual disability.

What are the symptoms of CINCA syndrome?

The most common symptoms of CINCA syndrome (also known as Chronic Infantile Neurological Cutaneous and Articular Syndrome) include:

-Chronic Inflammation of the skin, joints, and other organs

-Fever

-Rash

-Chronic fatigue
-Growth delay
-Developmental delay
-Hearing loss
-Eye problems
-Seizures
-Abnormalities of the brain and spinal cord
-Abnormalities of the heart and blood vessels
-Abnormalities of the kidneys and urinary tract
-Abnormalities of the gastrointestinal tract
-Abnormalities of the immune system

What are the causes of CINCA syndrome?

CINCA syndrome, also known as Chronic Infantile Neurological Cutaneous and Articular Syndrome, is an autoinflammatory disorder caused by mutations in the CIAS1/NALP3 gene. This gene is responsible for producing a protein called cryopyrin, which helps regulate the body's inflammatory response. Mutations in this gene can cause the body to produce too much of the inflammatory response, leading to the symptoms of CINCA syndrome.

What are the treatments for CINCA syndrome?

The primary treatment for CINCA syndrome is corticosteroids, which are used to reduce inflammation and suppress the immune system. Other treatments may include non-steroidal anti-inflammatory drugs (NSAIDs), immunosuppressants, and physical therapy. In some cases, surgery may be necessary to correct joint deformities or to remove fluid from the joints.

What are the risk factors for CINCA syndrome?

The primary risk factor for CINCA syndrome is a genetic mutation in the NLRP3 gene. Other risk factors include a family history of the condition, being of Ashkenazi Jewish descent, and having a weakened immune system.

Is there a cure/medications for CINCA syndrome?

Yes, there are medications available to treat CINCA syndrome. These medications are used to reduce inflammation and control the symptoms of the condition. Common medications used to treat CINCA syndrome include non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and immunosuppressants. In some cases, physical therapy and occupational therapy may also be recommended.