Pediatr. praxi. 2025;26(3):188-191 | DOI: 10.36290/ped.2025.036

A rare cause of extreme hypotrophy in newborns

MUDr. Marie Kasíková, MUDr. Alice Mocková, Ph.D.
Neonatologické oddělení FN Plzeň a LF UK, Plzeň

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.

Accepted: June 16, 2025; Published: July 4, 2025  Show citation

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Kasíková M, Mocková A. A rare cause of extreme hypotrophy in newborns. Pediatr. praxi. 2025;26(3):188-191. doi: 10.36290/ped.2025.036.
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