[Netherton syndrome].
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.
Serra-Guillén
Carlos
C
Servicio de Dermatología, Hospital Niño Jesús, Madrid, España.
Torrelo
Antonio
A
Drake
Marta
M
Armesto
Susana
S
Fernández-Llaca
Héctor
H
Zambrano
Antonio
A
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
D002352:Carrier Proteins; D053491:Proteinase Inhibitory Proteins, Secretory; C120650:SPINK5 protein, human; D000074163:Serine Peptidase Inhibitor Kazal-Type 5