Which are the symptoms of CINCA syndrome?

Symptoms of CINCA Syndrome

CINCA syndrome, also known as Chronic Infantile Neurological Cutaneous and Articular syndrome, is a rare autoinflammatory disorder that primarily affects infants and children. It is characterized by a range of symptoms that can have a significant impact on the affected individual's quality of life. While the severity and specific symptoms may vary from person to person, there are several key features commonly associated with CINCA syndrome.

1. Skin Rash: One of the hallmark symptoms of CINCA syndrome is a persistent, non-itchy rash that typically appears during infancy. This rash often presents as red, raised patches on the skin and may be accompanied by swelling and inflammation.

2. Joint Inflammation: Individuals with CINCA syndrome commonly experience joint inflammation, which can lead to pain, stiffness, and limited mobility. This inflammation primarily affects the large joints, such as the knees and elbows, but can also involve smaller joints.

3. Neurological Symptoms: CINCA syndrome can cause various neurological manifestations, including chronic headaches, increased intracranial pressure, and progressive hearing loss. Some individuals may also experience developmental delays, cognitive impairment, and seizures.

4. Ocular Abnormalities: Eye problems are frequently observed in individuals with CINCA syndrome. These may include conjunctivitis, uveitis (inflammation of the middle layer of the eye), and optic nerve damage, leading to vision impairment or loss.

5. Growth Impairment: Children with CINCA syndrome may experience growth delays, resulting in short stature. This can be attributed to the chronic inflammation affecting various body systems and interfering with normal growth processes.

6. Systemic Inflammation: CINCA syndrome is characterized by systemic inflammation, which can affect multiple organs and systems in the body. This chronic inflammation can lead to organ damage and dysfunction if left untreated.

7. Fever: Recurrent fevers are a common feature of CINCA syndrome. These fevers are typically low-grade but can persist for extended periods, often accompanied by other symptoms such as fatigue and malaise.

8. Other Symptoms: Additional symptoms that may be present in individuals with CINCA syndrome include lymphadenopathy (enlarged lymph nodes), hepatosplenomegaly (enlarged liver and spleen), and skeletal abnormalities.

It is important to note that CINCA syndrome is a chronic condition, and the symptoms tend to persist throughout an individual's life. Early diagnosis and appropriate management are crucial in minimizing the impact of the disease and improving the overall prognosis.