title: [Netherton syndrome].
abstract: Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome.
authors.affiliation: Servicio de Dermatología, Hospital Niño Jesús, Madrid, España.
authors.forename: Carlos
authors.initials: C
authors.lastname: Serra-Guillén
authors.forename: Antonio
authors.initials: A
authors.lastname: Torrelo
authors.forename: Marta
authors.initials: M
authors.lastname: Drake
authors.forename: Susana
authors.initials: S
authors.lastname: Armesto
authors.forename: Héctor
authors.initials: H
authors.lastname: Fernández-Llaca
authors.forename: Antonio
authors.initials: A
authors.lastname: Zambrano
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D003876:Dermatitis, Atopic / Q000235:genetics / Q000473:pathology*; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000473:pathology*; D009154:Mutation; D053491:Proteinase Inhibitory Proteins, Secretory; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5