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Netherton syndrome

Jonathan A Dyer, MD
Section Editors
Moise L Levy, MD
Jennifer L Hand, MD
Deputy Editor
Rosamaria Corona, MD, DSc


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 congenital ichthyosiform erythroderma, a specific hair shaft abnormality termed trichorrhexis invaginata ("bamboo hair"), and an atopic diathesis [1].

NS is one of the most severe disorders of cornification. Infants typically present at birth with a generalized scaling erythroderma and have a high risk of life-threatening complications, such as hypernatremic dehydration, failure to thrive, and sepsis. In older children, a wide range of allergic manifestations may occur, including severe atopic dermatitis, asthma, hay fever, and markedly elevated serum levels of immunoglobulin E.  

This topic will review the pathogenesis, clinical manifestations, diagnosis, and management of NS. Other disorders of cornification and disorders characterized by peeling skin are discussed separately. Other causes of neonatal and infantile erythroderma are also discussed separately.

(See "Overview and classification of the inherited ichthyoses".)

(See "Peeling skin syndrome".)

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Literature review current through: Nov 2017. | This topic last updated: Oct 31, 2016.
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