Chronic, infantile, neurological, cutaneous, articular syndrome

Chronic, Infantile, Neurological, Cutaneous, and Articular (CINCA) syndrome, also known as Neonatal-Onset Multisystem Inflammatory Disease (NOMID), is a rare, systemic, autoinflammatory disease characterized by a triad of symptoms: cutaneous (skin), neurological, and articular (joint). It is a severe form of CAPS (Cryopyrin-Associated Periodic Syndromes) which also includes milder forms such as Muckle-Wells syndrome and Familial Cold Autoinflammatory Syndrome (FCAS).

Symptoms and Signs

CINCA syndrome presents a wide range of symptoms, which can vary significantly among patients. The most common features include:

• Rash: A distinctive, urticaria-like rash that is typically present from birth or early infancy.
• Neurological involvement: Chronic aseptic meningitis leading to headaches, seizures, and cognitive impairment.
• Arthropathy: Abnormal growth and development of the joints, leading to deformities and chronic arthritis.
• Vision and hearing impairment: Including chronic uveitis, which can lead to blindness, and sensorineural hearing loss.

Other symptoms may include fever, growth retardation, and elevated levels of inflammatory markers in the blood.

Etiology

CINCA syndrome is caused by mutations in the NLRP3 (NACHT, LRR, and PYD domains-containing protein 3) gene, which encodes a protein called cryopyrin. Cryopyrin plays a crucial role in the regulation of inflammation and mutations in NLRP3 lead to overactivation of the inflammatory response.

Diagnosis

Diagnosis of CINCA syndrome is based on clinical presentation, family history, and genetic testing for mutations in the NLRP3 gene. Imaging studies, such as MRI, may be used to assess neurological involvement, while skin biopsy can confirm the characteristic rash.

Treatment

There is no cure for CINCA syndrome, but treatments are available to manage symptoms and reduce inflammation. These include:

• Anti-inflammatory medications: High doses of corticosteroids may be used initially to control symptoms.
• Biologic agents: IL-1 inhibitors, such as Anakinra, Canakinumab, and Rilonacept, have shown effectiveness in controlling inflammation and improving symptoms.

Prognosis

The prognosis for individuals with CINCA syndrome varies. With early diagnosis and appropriate treatment, many of the symptoms can be managed effectively, improving quality of life and potentially normalizing life expectancy. However, untreated or poorly managed cases may lead to severe complications and reduced life expectancy.

See Also

• CAPS (Cryopyrin-Associated Periodic Syndromes)
• Autoinflammatory diseases
• Muckle-Wells syndrome
• Familial Cold Autoinflammatory Syndrome (FCAS)

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