Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5
Version of Record online: 17 JAN 2013
© 2013 Wiley Periodicals, Inc.
Volume 30, Issue 4, pages e65–e67, July/August 2013
How to Cite
Diociaiuti, A., Castiglia, D., Fortugno, P., Bartuli, A., Pascucci, M., Zambruno, G. and El Hachem, M. (2013), Lethal Netherton Syndrome Due to Homozygous p.Arg371X Mutation in SPINK5. Pediatric Dermatology, 30: e65–e67. doi: 10.1111/pde.12076
- Issue online: 2 JUL 2013
- Version of Record online: 17 JAN 2013
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.1111C>T, p.Arg371X). This case highlights the importance of early diagnosis to start appropriate care in a timely fashion and prevent disease complications.