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Page 1
Netherton Syndrome.
Drivenes JL, Bygum A. Drivenes JL, et al. JAMA Dermatol. 2022 Nov 1;158(11):1315. doi: 10.1001/jamadermatol.2022.3796. JAMA Dermatol. 2022. PMID: 36169939
Netherton Syndrome in Children: Management and Future Perspectives.
Barbati F, Giovannini M, Oranges T, Lodi L, Barni S, Novembre E, Baldo E, Cristofolini M, Stagi S, Ricci S, Mori F, Filippeschi C, Azzari C, Indolfi G. Barbati F, et al. Front Pediatr. 2021 May 10;9:645259. doi: 10.3389/fped.2021.645259. eCollection 2021. Front Pediatr. 2021. PMID: 34041207 Free PMC article. Review.
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. ...
Netherton syndrome (NS) is a genetic, multisystemic disease classically distinguished by a triad of clinical manifestations: c …
Netherton Syndrome: A Genotype-Phenotype Review.
Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, Zafiriou E, Patsatsi A, Stamatis C, Gidarokosta P, Sotiriadis D, Sarafidou T, Mamuris Z. Sarri CA, et al. Mol Diagn Ther. 2017 Apr;21(2):137-152. doi: 10.1007/s40291-016-0243-y. Mol Diagn Ther. 2017. PMID: 27905021 Review.
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherto …
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and …
Netherton Syndrome: A Systematic Review of the Challenges of Diagnosis and Treatment.
Reese MS, Nguyen R, Chughtai N, Haynos PJ, Alkhatib S, Amin S, Speer E, Nichols J. Reese MS, et al. Cureus. 2025 Dec 2;17(12):e98322. doi: 10.7759/cureus.98322. eCollection 2025 Dec. Cureus. 2025. PMID: 41487865 Free PMC article. Review.
Netherton syndrome is an autosomal recessive genodermatosis caused by biallelic mutations in the SPINK5 gene, a gene that codes for lymphoepithelial Kazal-type-related inhibitor 1 (LEKT1) protein. ...A systematic review of 30 case reports and clinical studies on …
Netherton syndrome is an autosomal recessive genodermatosis caused by biallelic mutations in the SPINK5 gene, a gene that code …
Netherton Syndrome Perspectives.
Hon KLE, Cheung YC, Chan ZM, Law YT, Lam HT, Chu A, Leung AKC, Chandran NS, Leong KF. Hon KLE, et al. Curr Pediatr Rev. 2025 Jun 19. doi: 10.2174/0115733963361849250611072347. Online ahead of print. Curr Pediatr Rev. 2025. PMID: 40551686
Netherton syndrome (NS), also known as Comel-Netherton syndrome, is a rare disorder of cornification resulting from pathogenic variants in the Kazal type 5 (SPINK5) gene encoding serine protease inhibitor LEKTI. ...
Netherton syndrome (NS), also known as Comel-Netherton syndrome, is a rare disorder of cornification resulting f …
Netherton Syndrome: A Comprehensive Literature Review of Pathogenesis, Clinical Manifestations, and Therapeutic Strategies.
Mocarska M, Muciek A, Dolinkiewicz J, Maryńczak AM, Nitschke N, Strakowska K, Opalska L, Orłowska AM. Mocarska M, et al. J Mother Child. 2025 Sep 2;29(1):106-113. doi: 10.34763/jmotherandchild.20252901.d-25-00014. eCollection 2025 Feb 1. J Mother Child. 2025. PMID: 40899446 Free PMC article. Review.
Netherton syndrome (NS) is a rare, autosomal recessive genodermatosis resulting from mutations in the SPINK5 gene, which encodes the LEKTI (Lympho-Epithelial Kazal-type-related inhibitor) protein. ...
Netherton syndrome (NS) is a rare, autosomal recessive genodermatosis resulting from mutations in the SPINK5 gene, which encod …
Netherton Syndrome: Case Report and Review of the Literature.
Herz-Ruelas ME, Chavez-Alvarez S, Garza-Chapa JI, Ocampo-Candiani J, Cab-Morales VA, Kubelis-López DE. Herz-Ruelas ME, et al. Skin Appendage Disord. 2021 Aug;7(5):346-350. doi: 10.1159/000514699. Epub 2021 Jun 15. Skin Appendage Disord. 2021. PMID: 34604321 Free PMC article. Review.
Netherton syndrome (NS) is a rare genodermatosis with an autosomal recessive pattern of inheritance caused by pathogenic variants in the SPINK5 gene. ...
Netherton syndrome (NS) is a rare genodermatosis with an autosomal recessive pattern of inheritance caused by pathogenic varia …
Biological treatments for pediatric Netherton syndrome.
Pontone M, Giovannini M, Filippeschi C, Oranges T, Pedaci FA, Mori F, Barni S, Barbati F, Consonni F, Indolfi G, Lodi L, Azzari C, Ricci S, Hovnanian A. Pontone M, et al. Front Pediatr. 2022 Dec 23;10:1074243. doi: 10.3389/fped.2022.1074243. eCollection 2022. Front Pediatr. 2022. PMID: 36619513 Free PMC article. Review.
Netherton syndrome (NS) is a rare and potentially life-threatening genetic skin disease responsible for skin inflammation and scaling, hair abnormalities and severe allergic manifestations. ...
Netherton syndrome (NS) is a rare and potentially life-threatening genetic skin disease responsible for skin inflammation and …
Dual antibody inhibition of KLK5 and KLK7 for Netherton syndrome and atopic dermatitis.
Chavarria-Smith J, Chiu CPC, Jackman JK, Yin J, Zhang J, Hackney JA, Lin WY, Tyagi T, Sun Y, Tao J, Dunlap D, Morton WD, Ghodge SV, Maun HR, Li H, Hernandez-Barry H, Loyet KM, Chen E, Liu J, Tam C, Yaspan BL, Cai H, Balazs M, Arron JR, Li J, Wittwer AJ, Pappu R, Austin CD, Lee WP, Lazarus RA, Sudhamsu J, Koerber JT, Yi T. Chavarria-Smith J, et al. Sci Transl Med. 2022 Dec 14;14(675):eabp9159. doi: 10.1126/scitranslmed.abp9159. Epub 2022 Dec 14. Sci Transl Med. 2022. PMID: 36516271
Imbalance of proteolytic activity caused by a deficiency of LEKTI leads to excessive desquamation due to increased activities of KLK5, KLK7, and KLK14 and results in Netherton syndrome (NS), a debilitating condition with an unmet clinical need. Increased activity of …
Imbalance of proteolytic activity caused by a deficiency of LEKTI leads to excessive desquamation due to increased activities of KLK5, KLK7, …
Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Kraljević D, Mikulić S, Damjanović A. Kraljević D, et al. Acta Dermatovenerol Croat. 2025 May;33(1):26-30. Acta Dermatovenerol Croat. 2025. PMID: 41178654 Review.
Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, leading to LEKTI deficiency and skin barrier dysfunction. ...
Netherton syndrome (NS) is a rare autosomal recessive disorder caused by SPINK5 mutations, leading to LEKTI deficiency and ski …
664 results