Chronic Infantile Neurologic Cutaneous and Articular syndrome

Also known as: CINCA; Neonatal Onset Multisystem Inflammatory Disease (NOMID)

Overview

Chronic infantile neurologic cutaneous and articular syndrome (CINCA) causes persistent inflammation and tissue damage mostly affecting the nervous system, skin, and joints. People affected have a skin rash that occurs from birth and may have a characteristic facial appearance. CINCA also causes headaches, fever, seizures, and vomiting resulting from chronic meningitis, (inflammation of the tissue that covers and protects the brain and spinal cord – called meninges). Hearing and vision problems may occur as well as joint inflammation, swelling, and cartilage overgrowth, causing skeletal abnormalities. Changes (mutations) in the NLRP3 gene cause CINCA in around half of those affected. It is diagnosed by blood and spinal fluid tests together with X-rays to identify the bone effects of the condition and genetic tests can confirm diagnosis in some people. Management of CINCA includes treatments with anakinra (a biological agent), which interferes with specific parts of the body’s immune response. Other supportive measures may be needed for joint problems, such as physiotherapy. In most cases CINCA occurs sporadically (with no family history), but the gene mutation in NLRP3 is inherited in an autosomal dominant manner. Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text written December 2012 by Contact a Family. Approved January 2013 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT.

Is there support?

There is no support group for CINCA in the UK. Cross referrals to other entries in The Contact a Family Directory are intended to provide relevant support for those particular features of the disorder. Organisations identified in those entries do not provide support specifically for CINCA.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also connect with other families in our closed Facebook group