Neonatal onset multisystem inflammatory disease

Neonatal Onset Multisystem Inflammatory Disease (NOMID), also known as Chronic Infantile Neurological Cutaneous and Articular Syndrome (CINCA), is a rare genetic disorder characterized by persistent inflammation and tissue damage. It is part of the larger group of diseases known as autoinflammatory diseases.

Symptoms

NOMID is characterized by a triad of symptoms that are present from birth or early infancy: skin rash, joint involvement, and chronic meningitis. The skin rash is often the first symptom to appear, typically within the first weeks of life. Joint involvement can lead to abnormal growth and bone deformities. Chronic meningitis can result in neurological complications such as hearing loss, vision loss, and developmental delays.

Causes

NOMID is caused by mutations in the NLRP3 gene, which is involved in the body's immune response. These mutations lead to an overactive inflammatory response, causing the symptoms of the disease. However, in some cases, the cause of NOMID is unknown.

Diagnosis

Diagnosis of NOMID is based on clinical symptoms and genetic testing. The presence of the characteristic triad of symptoms can suggest the diagnosis, which can then be confirmed by genetic testing for mutations in the NLRP3 gene.

Treatment

Treatment for NOMID is aimed at managing symptoms and preventing complications. This can include anti-inflammatory medications, physical therapy for joint problems, and regular monitoring for neurological complications.

Prognosis

The prognosis for individuals with NOMID varies. With early diagnosis and treatment, many of the symptoms can be managed and complications can be prevented. However, the disease can be life-threatening if not treated.

See also

• Autoinflammatory diseases
• NLRP3
• Meningitis

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