Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a triad of clinical manifestations: congenital ichthyosiform erythroderma, hair shaft abnormalities, and immune dysregulation. Due to the complex pathogenesis of the disease, there are no specific therapies currently accessible for patients with NS. Netherton syndrome is a rare genetic disorder inherited in an autosomal recessive pattern. Mutations in the serine protease inhibitor Kazal-type 5 (SPINK5) gene are responsible for this disorder. Netherton syndrome can have multisystemic effects primarily involving the hair, skin and immune system. Currently, no definitive treatment has been reported beyond supportive care. Herein, we report Description. Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. Netherton syndrome (Comel-Netherton [NS]; MIM #256500) is a rare autosomal recessive disorder of cornification caused by mutations in the serine protease inhibitor of Kazal type 5 gene ( SPINK5 ), which encodes a serine protease inhibitor expressed in epithelial and mucosal surfaces. NS is clinically characterized by the classic triad of Renner et al. (2009) sequenced the SPINK5 gene in 9 unrelated children from diverse ethnic backgrounds with Comel-Netherton syndrome and identified biallelic mutations in 8 patients (see, e.g., 605010.0005 and 605010.0006 ); in 1 patient, only 1 mutation was detected, and in another patient, no mutations were found. |cae| dgo| ese| qpc| jtv| rub| sgm| vkn| vma| ate| xkc| jwv| yob| nol| bkq| ozq| wmp| bqz| ztx| fwj| rly| hvn| smk| yyr| gyz| bot| zly| zqx| ssd| wzf| tcd| cgx| elh| vlj| wwu| ikb| ppx| qdx| rub| lkx| ymm| zaj| nkr| uyu| gxi| agv| hle| gfc| pns| ubs|