An Infant with Netherton Syndrome and Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation
Article first published online: 9 JUN 2008
© 2008 The Authors. Journal compilation © 2008 Blackwell Publishing, Inc.
Volume 25, Issue 3, pages 368–372, May/June 2008
How to Cite
Macknet, C. A., Morkos, A., Job, L., Garberoglio, M. C., Clark, R. D., Macknet, K. D. and Peverini, R. L. (2008), An Infant with Netherton Syndrome and Persistent Pulmonary Hypertension Requiring Extracorporeal Membrane Oxygenation. Pediatric Dermatology, 25: 368–372. doi: 10.1111/j.1525-1470.2008.00685.x
- Issue published online: 9 JUN 2008
- Article first published online: 9 JUN 2008
Abstract: Netherton syndrome is a rare genodermatosis characterized by ichthyosiform scaling, hair shaft abnormalities, and atopic features. Affected infants typically have delayed growth and development, immune abnormalities with recurrent infections, and intermittent aminoaciduria. We report a 23-day-old girl who presented with severe primary pulmonary hypertension, exfoliative erythroderma, and trichorrhexis invaginata. Genetic studies confirmed a premature termination mutation R350X in exon 12 of SPINK5. This mutation further supports the genotypic-phenotypic prediction that severe sequela result from premature termination mutations. To our knowledge, this is the first instance of Netherton syndrome associated with primary pulmonary hypertension to be reported. Further postulated is a possible link between excessive desquamation of fetal skin and respiratory failure in a neonate with Netherton syndrome.