Article: Netherton Syndrome in a Mother and Her Two Children.
South Dakota medicine : the journal of the South Dakota State Medical Association
2023 Volume 75, Issue 12, Page(s) 554–556
Abstract: Netherton syndrome (NS) is a rare autosomal recessive condition caused by mutations in the serine peptidase inhibitor, Kazal type 5 (SPINK5) gene which encodes for a serine protease inhibitor, lymphoepithelial Kazal-typerelated inhibitor (LEKT1). NS is ... ...
Abstract | Netherton syndrome (NS) is a rare autosomal recessive condition caused by mutations in the serine peptidase inhibitor, Kazal type 5 (SPINK5) gene which encodes for a serine protease inhibitor, lymphoepithelial Kazal-typerelated inhibitor (LEKT1). NS is characterized by a triad of ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis with elevated IgE levels. The syndrome typically presents in infancy, where life-threatening complications are frequent, and evolves into a less severe condition with milder clinical symptoms in adulthood. This case report details the clinical history and genetic testing of a mother and two children with clinically symptomatic and genetically proven NS. |
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MeSH term(s) | Humans ; Child ; Female ; Netherton Syndrome/complications ; Netherton Syndrome/diagnosis ; Netherton Syndrome/genetics ; Mothers ; Serine Peptidase Inhibitor Kazal-Type 5/genetics ; Ichthyosiform Erythroderma, Congenital/genetics ; Mutation ; Serine Proteinase Inhibitors/genetics |
Chemical Substances | Serine Peptidase Inhibitor Kazal-Type 5 ; Serine Proteinase Inhibitors |
Language | English |
Publishing date | 2023-03-10 |
Publishing country | United States |
Document type | Case Reports |
ZDB-ID | 2278073-7 |
ISSN | 0038-3317 |
ISSN | 0038-3317 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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