Neonatal inflammatory skin and bowel disease
Definition:
Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations that cause NISBD have been identified.
References:
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[1]. Diana C Blaydon, et al. Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J Med. 2011 Oct 20;365(16):1502-8. [Content Brief]
[2]. Patrick Campbell, et al. Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. J Invest Dermatol. 2014 Oct;134(10):2570-2578. [Content Brief]
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