التفاصيل البيبلوغرافية
| العنوان: |
Netherton syndrome—A therapeutic challenge in childhood |
| المؤلفون: |
Kostova, Polina, Petrova, Guergana, Shahid, Martin, Papochieva, Vera, Miteva, Dimitrinka, Yordanova, Ivelina, Drenovska, Kossara, Bradinova, Irena, Janniger, Camila K., Schwartz, Robert A., Vassileva, Snejina |
| المصدر: |
Clinical Case Reports ; volume 12, issue 4 ; ISSN 2050-0904 2050-0904 |
| بيانات النشر: |
Wiley |
| سنة النشر: |
2024 |
| المجموعة: |
Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: |
Key Clinical Message High‐dose intravenous immunoglobulin exhibits great potential in the treatment of Netherton syndrome. Abstract Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It is caused by loss‐of‐function mutations in the SPINK5 gene, which encode a key kallikrein protease inhibitor. There are two subtypes of the syndrome that differ in clinical presentation and immune profile: ichthyosiform erythroderma and ichthyosis linearis circumflexa. NS is a multisystemic disease with numerous extracutaneous manifestations. Current therapy for patients with NS is mainly supportive, as there is no curative or specific treatment, especially for children with NS, but targeted therapies are being developed. We describe an 8‐year‐old boy with genetically proven NS treated with intravenous immunoglobulin for recurrent skin and systemic infections from infancy, growth retardation, and associated erythroderma. Under this therapy, his skin status, infectious exacerbations, and quality of life all improved. Knowledge of the cytokine‐mediated pathogenesis of NS and the development of new biologic drugs open new possibilities for NS patients. However, the different therapeutic options have been applied in a limited number of cases, and variable responses have been shown. Randomized controlled trials with a sufficient number of patients stratified and treated according to their specific immune profile and clinical phenotype are needed to evaluate the safety and efficacy of treatment options for patients with NS. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1002/ccr3.8770 |
| الإتاحة: |
https://doi.org/10.1002/ccr3.8770Test |
| حقوق: |
http://creativecommons.org/licenses/by-nc/4.0Test/ |
| رقم الانضمام: |
edsbas.7D40211B |
| قاعدة البيانات: |
BASE |
