[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-detail-46510-en":3,"doc-seo-46510-105":30,"detail-sidebar-cat-0-en-105":92},{"code":4,"msg":5,"data":6},0,"success",{"doc_id":7,"user_id":8,"nickname":9,"user_avatar":10,"doc_module":4,"category_id":11,"category_name":12,"doc_title":13,"doc_description":14,"doc_content":15,"file_id":16,"file_url":17,"file_type":18,"file_size":19,"view_count":20,"is_deleted":4,"is_public":21,"is_downloadable":21,"audit_status":21,"page_count":22,"language":23,"language_code":24,"site_id":25,"html_lang":24,"table_of_contents":26,"faqs":27,"seo_title":13,"seo_description":14,"update_tm":28,"read_time":29},46510,1099513958762,"Logic","https://ap-avatar.wpscdn.com/avatar/1000023916a998db790?x-image-process=image/resize,m_fixed,w_180,h_180&k=1784791008015729253",8,"Research & Report","The Challenging Management of a Series of 43 Infants with Netherton Syndrome","A cohort analysis of 43 infants with Netherton syndrome examines unexpected systemic complications and newly described SPINK5 mutations that complicate clinical care in early life. The study links hypernatremia in 53.5% of cases to higher likelihood of enteral and/or parenteral nutritional support and associates risk with skin manifestations at birth and the c.153delT exon 3 mutation. Overall mortality was 9%, higher within the c.153delT subset (OR 11.8). Multidisciplinary recommendations emphasize NS as a systemic, life-long, potentially lethal multisystem disorder requiring specific neonatal protocols.","DR NATHALIA BELLON (Orcid ID : 0000-0003-3311-1674)  \nArticle type : Original Article  \nThe challenging management of a series of 43 infants with Netherton syndrome: unexpected  \ncomplications and novel mutations  \nN. Bellon, 1 S. Hadj-Rabia, 1,2 F. Moulin,3 C. Lambe,4 G. Lezmi,2,5 F. Charbit-Henrion,6 C. Alby,6  \nL. Le Saché-de Peufeilhoux, 1 S. Leclerc-Mercier,7 A. Hadchouel,2,5 J. Steffann,2,6 A. Hovnanian,2,6,8 A. Lapillonne2,9 and C. Bodemer 1,2  \n1Department of Dermatology, Reference Centre for Genodermatoses and rare skin diseases (MAGEC), Imagine Institute, Necker-Enfants Malades Hospital (AP-HP), Paris, France  \n2Paris-Centre University, Paris, France  \n3Department of Paediatric Intensive Care Unit, Necker-Enfants Malades Hospital (AP-HP), Paris, France  \n4Department of Paediatric Gastroenterology, Hepatology and Nutrition, Necker-Enfants Malades Hospital (AP-HP), Paris, France  \n5Department of Pneumo-allergology, Necker-Enfants Malades Hospital (AP-HP), Paris, France  \n6Department of Genetics, Necker-Enfants Malades Hospital (AP-HP), Paris, France  \n7Department of Pathology, Referral Centre for Genodermatoses (MAGEC), Necker-Enfants Malades Hospital (AP-HP), Paris, France  \nThis article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi:  \n10. 1111/BJD.19265  \nThis article is protected by copyright. All rights reserved  \n8INSERM UMR 1163 Laboratory of Genetic Skin Diseases, Imagine Institute, Paris, France  \n9Department of Neonatology, Necker-Enfants Malades Hospital (AP-HP), Paris, France  \nCorresponding author: Professor Christine Bodemer, Email: [christine.bodemer@aphp.fr](christine.bodemer@aphp.fr)  \nFunding: None  \nConflicts of interest: none  \nWhat’s already known about this topic?  \nNetherton syndrome (NS) is a rare genetic disease characterized by dermatitis, skin fragility, hair involvement, and (in most cases) severe allergic manifestations. Most previous clinical studies of NS have described older children.  \nWhat does this study add?  \nOur series of 43 NS infants showed unexpected systemic manifestations, new mutations and prompted us to make several recommendations on multidisciplinary work-up and management of life-threatening manifestations in young children with NS.  \nWhat are the clinical implications of this work?  \nInfants with NS require specific care protocols; Netherton syndrome should be considered as a systemic, life-long disease.  \nThis article is protected by copyright. All rights reserved  \nSummary  \nBackground  \nNetherton syndrome (NS) is a rare disease caused by SPINK5 mutations, featuring variable skin and hair involvement and, in many cases, allergic manifestations with a risk of lethality particularly in infants. The clinical management is challenging.  \nObjectives  \nTo analyse the clinical manifestations of a cohort of NS infants managed in a reference centre. To draw up recommendations for management.  \nMethods  \nThe inclusion criteria were a management in our reference centre, a histologically or molecularly confirmed diagnosis of NS and available epidemiological, clinical and laboratory data.  \nResults  \nForty-three patients with NS were included. Hypernatremia reported in 23 cases (53.5%) and associated with a greater likelihood of enteral and/or parenteral nutritional support (p\u003C0.0001) was more frequent in patients with skin manifestations at birth (p=0.026) and in patients bearing the c.153delT mutation in SPINK5 exon 3 (p=0.014). The need for enteral and/or parenteral nutritional support was associated with a history of hypernatraemic dehydration (p\u003C0.0001) . Several unexpected extracutaneous complications were recorded and new mutations reported. The death rate (9% overall) was higher among the subset of patients bearing the c.153delT deletion (p=0.04, OR=11.8) . ","cbCaikE06FnVmSAF","https://ap.wps.com/l/cbCaikE06FnVmSAF","pdf",7212623,5,1,17,"English","en",105,"# Summary\n## Background\n## Objectives\n## Methods\n## Results\n## Conclusions\n# Introduction\n# Patients and Methods","[{\"question\":\"What is Netherton syndrome and why is management challenging in infants?\",\"answer\":\"Netherton syndrome is a rare autosomal recessive disorder caused by SPINK5 loss-of-function mutations, leading to severe skin barrier defects and IgE-mediated allergic manifestations. In early infancy, high skin permeability can trigger hypernatremic dehydration, infections, and failure to thrive, making diagnosis and treatment particularly difficult.\"},{\"question\":\"What unexpected clinical findings were highlighted in this cohort?\",\"answer\":\"The series documented unexpected extracutaneous complications beyond skin and hair involvement, along with several new mutations. These findings expanded the phenotypic spectrum of Netherton syndrome in young children.\"},{\"question\":\"How were hypernatremia, nutrition support, and mortality related to specific mutations?\",\"answer\":\"Hypernatremia occurred in 23 of 43 patients (53.5%) and was associated with a greater likelihood of enteral and/or parenteral nutritional support. Nutritional support needs were linked to hypernatraemic dehydration history, and death rate (9% overall) was higher among patients with the c.153delT deletion (OR 11.8).\"}]",1783544889,43,{"code":4,"msg":31,"data":32},"ok",{"site_id":25,"language":24,"slug":33,"title":13,"keywords":34,"description":14,"schema_data":35,"social_meta":87,"head_meta":89,"extra_data":91,"updated_unix":28},"the-challenging-management-of-a-series-of-43-infants-with-netherton-syndrome","",{"@graph":36,"@context":86},[37,54,69],{"@type":38,"itemListElement":39},"BreadcrumbList",[40,44,48,51],{"item":41,"name":42,"@type":43,"position":21},"https://docshare.wps.com","Home","ListItem",{"item":45,"name":46,"@type":43,"position":47},"https://docshare.wps.com/document/","Document",2,{"item":49,"name":12,"@type":43,"position":50},"https://docshare.wps.com/document/research-report/",3,{"item":52,"name":13,"@type":43,"position":53},"https://docshare.wps.com/document/the-challenging-management-of-a-series-of-43-infants-with-netherton-syndrome/46510/",4,{"url":52,"name":13,"@type":55,"author":56,"headline":13,"publisher":58,"fileFormat":61,"inLanguage":24,"description":14,"dateModified":62,"datePublished":63,"encodingFormat":61,"isAccessibleForFree":64,"interactionStatistic":65},"DigitalDocument",{"name":9,"@type":57},"Person",{"url":41,"name":59,"@type":60},"DocShare","Organization","application/pdf","2026-07-18","2026-07-08",true,{"@type":66,"interactionType":67,"userInteractionCount":20},"InteractionCounter",{"@type":68},"ViewAction",{"@type":70,"mainEntity":71},"FAQPage",[72,78,82],{"name":73,"@type":74,"acceptedAnswer":75},"What is Netherton syndrome and why is management challenging in infants?","Question",{"text":76,"@type":77},"Netherton syndrome is a rare autosomal recessive disorder caused by SPINK5 loss-of-function mutations, leading to severe skin barrier defects and IgE-mediated allergic manifestations. In early infancy, high skin permeability can trigger hypernatremic dehydration, infections, and failure to thrive, making diagnosis and treatment particularly difficult.","Answer",{"name":79,"@type":74,"acceptedAnswer":80},"What unexpected clinical findings were highlighted in this cohort?",{"text":81,"@type":77},"The series documented unexpected extracutaneous complications beyond skin and hair involvement, along with several new mutations. These findings expanded the phenotypic spectrum of Netherton syndrome in young children.",{"name":83,"@type":74,"acceptedAnswer":84},"How were hypernatremia, nutrition support, and mortality related to specific mutations?",{"text":85,"@type":77},"Hypernatremia occurred in 23 of 43 patients (53.5%) and was associated with a greater likelihood of enteral and/or parenteral nutritional support. Nutritional support needs were linked to hypernatraemic dehydration history, and death rate (9% overall) was higher among patients with the c.153delT deletion (OR 11.8).","https://schema.org",{"og:url":52,"og:type":88,"og:title":13,"og:site_name":59,"og:description":14},"article",{"robots":90,"canonical":52},"index,follow",{"doc_id":7,"site_id":25},{"code":4,"msg":5,"data":93},[94,98,102,106,110,115,120,123,128,131,135],{"id":21,"doc_module":4,"doc_module_name":46,"category_name":95,"show_sort_weight":96,"slug":97},"Story & Novel",90,"story-novel",{"id":47,"doc_module":4,"doc_module_name":46,"category_name":99,"show_sort_weight":100,"slug":101},"Literature",80,"literature",{"id":53,"doc_module":4,"doc_module_name":46,"category_name":103,"show_sort_weight":104,"slug":105},"Exam",70,"exam",{"id":20,"doc_module":4,"doc_module_name":46,"category_name":107,"show_sort_weight":108,"slug":109},"Comic",60,"comic",{"id":111,"doc_module":4,"doc_module_name":46,"category_name":112,"show_sort_weight":113,"slug":114},6,"Technology",50,"technology",{"id":116,"doc_module":4,"doc_module_name":46,"category_name":117,"show_sort_weight":118,"slug":119},7,"Healthcare",40,"healthcare",{"id":11,"doc_module":4,"doc_module_name":46,"category_name":12,"show_sort_weight":121,"slug":122},30,"research-report",{"id":124,"doc_module":4,"doc_module_name":46,"category_name":125,"show_sort_weight":126,"slug":127},9,"Religion & Spirituality",20,"religion-spirituality",{"id":126,"doc_module":4,"doc_module_name":46,"category_name":129,"show_sort_weight":126,"slug":130},"World Cup","world-cup",{"id":132,"doc_module":4,"doc_module_name":46,"category_name":133,"show_sort_weight":132,"slug":134},10,"Lifestyle","lifestyle",{"id":136,"doc_module":4,"doc_module_name":46,"category_name":137,"show_sort_weight":20,"slug":138},19,"General","general"]