Conditions / Immune

neonatal nephrocutaneous inflammatory syndrome

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An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the

An autoinflammatory disease characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction that has_material_basis_in mutation in homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11.

Signs and symptoms

  • Polyhydramnios
  • Increased circulating IgE concentration
  • Pustule
  • Coarctation of aorta
  • Epidermal acanthosis
  • Failure to thrive
  • Dehydration
  • Hypertension
  • Papule
  • Secretory diarrhea

Also known as: neonatal inflammatory skin and bowel disease 2