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Neonatal Inflammatory Skin and Bowel Disease (NISBD2)

Neonatal Inflammatory Skin and Bowel Disease (NISBD2)

OMIM number: 616069

Comments closing date: 09/10/2019

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Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome. The main symptoms of the condition include early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections, dilated cardiomyopathy and viral myocarditis (inflammation of the heart muscle). Recurrent skin and lung infections can lead to red, swollen and itchy eyelids, inflammation of the ear canals and bronchiolitis. The condition results in failure to thrive which is associated with chronic diarrhoea, gastrointestinal infections, renal enlargement and feeding troubles. Chronic diarrhoea can lead to malabsorption (which prevents the bowel from absorbing important nutrients and fluids). In addition, individuals can have short broken hair, and wiry eyelashes and eyebrows. They can also develop thickened nails which are prone to infection. NISBD (1 and 2) is inherited in an autosomal recessive manner which means that if both couples are carriers of the condition they have a 1 in 4 chance of having a child affected with the condition.

Review date: 11 September 2021