neonatal inflammatory skin and bowel disease 1

An autoinflammatory disease that has_material_basis_in homozygous mutation in the ADAM17 gene on chromosome 2p25.

Signs and symptoms

• Increased circulating IgE concentration
• Pustule
• Bloody diarrhea
• Duodenitis
• Perioral erythema
• Perianal erythema
• Onychogryphosis
• Paronychia
• Erythroderma
• Blepharitis