Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5

Abstract Here we report a lethal case of Netherton syndrome presenting with neurologic complications, hypernatremic dehydration, failure to thrive, and episodes of sepsis. Molecular analysis of the serine protease inhibitor Kazal‐type 5 gene identified a homozygous mutation (c.1111 C > T , p. A rg371 X ). This case highlights the importance of early diagnosis to start appropriate care in a timely fashion and prevent disease complications.