Neonatal-Onset Multisystem Inflammatory Disease (NOMID) a.k.a. Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) Syndrome

What is NOMID/CINCA?

Neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic, cutaneous,and  articular (CINCA) syndrome, is a rare disorder that causes persistent inflammation and tissue damage primarily affecting the nervous system, skin, and joints. NOMID/CINCA is the most severe and rarest form of cryopyrin-associated periodic syndrome (CAPS).

What are the symptoms of NOMID/CINCA?

The following are common symptoms of NOMID/CINCA:

• Fever
• Skin rashes
• Chronic meningitis
• Mental retardation
• Seizures
• Sensory organ dysfunction which may result in vision and hearing loss
• Joint inflammation and joint and bone deformities
• Enlargement of the knee-cap
• Stunted growth
• Enlargement of the liver and spleen
• Abnormal increase in the number of white blood cells
• Elevation in levels of the protein amyloid A and C-reactive protein in the blood and an increase in the erythrocyte sedimentation rate
• Abnormal facial features can sometimes be seen

What causes NOMID/CINCA?

NOMID appears to follow autosomal dominant inheritance. About 50-60 percent of those who are diagnosed with NOMID have heterozygous mutations in the CIAS1/NLRP3 gene that codes for the protein cryopyrin (NALP3). Mutations in this gene are thought to cause increased activity of a protein complex containing cryopyrin. This protein complex is known as the inflammasome and regulates inflammation in the body. Increased inflammasome activity results in increased release of a protein known as interleukin (IL) 1ß, which leads to symptoms of inflammation such as fever and joint pain.

How is NOMID/CINCA diagnosed?

NOMID/CINCA is diagnosed through an evaluation of a patient’s symptoms and medical history. Confirmation of the diagnosis is achieved through genetic testing although almost half of all NOMID patients do not possess a mutation in the CIAS1/NLRP3 gene.

What are the available treatments for NOMID/CINCA?

There are no FDA-approved therapies for the treatment of NOMID/CINCA. Therapies that suppress inflammation, including high-dose corticosteroids and disease-modifying antirheumatic drugs have been used to treat NOMID. However, these treatments tend to be only moderately effective, with inflammation persisting in most children.

Where can I find out more about NOMID/CINCA?

• NIH
• Autoinflammatory Alliance
• National Organization for Rare Disorders (NORD)