Conditions / Immune
neonatal nephrocutaneous inflammatory syndrome
info ยท Immune
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