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:
- Skin rashes
- Chronic meningitis
- Mental retardation
- 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?