title: 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.1111C>T, p.Arg371X). This case highlights the importance of early diagnosis to start appropriate care in a timely fashion and prevent disease complications.
authors: Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. andrea.diociaiuti@tin.it
authors: Andrea
authors: A
authors: Diociaiuti
authors: Daniele
authors: D
authors: Castiglia
authors: Paola
authors: P
authors: Fortugno
authors: Andrea
authors: A
authors: Bartuli
authors: Monica
authors: M
authors: Pascucci
authors: Giovanna
authors: G
authors: Zambruno
authors: May
authors: M
authors: El Hachem
mesh_terms: D017809:Fatal Outcome; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D056770:Netherton Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D017354:Point Mutation; D053491:Proteinase Inhibitory Proteins, Secretory / Q000235:genetics*; D000074163:Serine Peptidase Inhibitor Kazal-Type 5
chemical_list: D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5