Vzácná příčina extrémní hypotrofie u novorozenců // SOLEN

Pediatria pre prax 1/2026

A rare cause of extreme hypotrophy in newborns

We present a case report of a severely immature newborn with a rare cause of extreme hypotrophy. The girl was diagnosed with the so-called nephrocutaneous syndrome, caused by a mutation in the epidermal growth factor receptor (EGFR) gene. Along with hypotrophy, dominate inflammatory skin lesions, susceptibility to infections, ionic imbalance and enlarged kidneys.

Keywords: rare disease, IUGR, hypotrophy, nephrocutaneous syndrome, skin inflammation, EGFR mutation, epidermal growth factor receptor