title: An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation.
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.
authors.affiliation: Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, California, USA.
authors.forename: Cathy A
authors.initials: CA
authors.lastname: Macknet
authors.forename: Ashraf
authors.initials: A
authors.lastname: Morkos
authors.forename: Leela
authors.initials: L
authors.lastname: Job
authors.forename: Maria C
authors.initials: MC
authors.lastname: Garberoglio
authors.forename: Robin D
authors.initials: RD
authors.lastname: Clark
authors.forename: Kenneth D
authors.initials: KD
authors.lastname: Macknet
authors.forename: Ricardo L
authors.initials: RL
authors.lastname: Peverini
mesh_terms: D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D015199:Extracorporeal Membrane Oxygenation; D005260:Female; D006197:Hair / Q000473:pathology*; D006201:Hair Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000151:congenital* / Q000628:therapy; D016113:Ichthyosiform Erythroderma, Congenital / Q000235:genetics; D007231:Infant, Newborn; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D012867:Skin / Q000473:pathology; D013577:Syndrome
chemical_list: D018389:Codon, Nonsense; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5