Netherton syndrome

Common Name(s)

Netherton syndrome

Netherton syndrome is a type of ichthyosis. Symptoms vary but commonly include inflamed, red, scaly skin, short, brittle, lustreless hair, and a predisposition to allergy problems (e.g., to nuts, hay fever, and asthma).  Symptoms may be mild or severe and tend to present in infancy. Failure to thrive and recurrent infection are possible complications in infants with this syndrome. Netherton syndrome is caused by mutations in the SPINK5 gene. It is inherited in an autosomal recessive fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Netherton syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Netherton syndrome" returned 24 free, full-text research articles on human participants. First 3 results:

Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome.
 

Author(s): Laetitia Furio, Simon de Veer, Madeleine Jaillet, Anais Briot, Aurelie Robin, Celine Deraison, Alain Hovnanian

Journal: J. Exp. Med.. 2014 Mar;211(3):499-513.

 

Netherton syndrome (NS) is a severe genetic skin disease in which absence of a key protease inhibitor causes congenital exfoliative erythroderma, eczematous-like lesions, and atopic manifestations. Several proteases are overactive in NS, including kallikrein-related peptidase (KLK) ...

Last Updated: 11 Mar 2014

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Netherton syndrome with multiple non-melanoma skin cancers.
 

Author(s): Ella A M van der Voort, Errol P Prens

Journal: Acta Derm. Venereol.. 2013 Nov;93(6):727-8.

 

Last Updated: 23 Oct 2013

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Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.
 

Author(s): Matthieu Lacroix, Laetitia Lacaze-Buzy, Laetitia Furio, Elodie Tron, Manthoula Valari, Gerda Van der Wier, Christine Bodemer, Anette Bygum, Anne-Claire Bursztejn, George Gaitanis, Mauro Paradisi, Alexander Stratigos, Lisa Weibel, CĂ©line Deraison, Alain Hovnanian

Journal: J. Invest. Dermatol.. 2012 Mar;132(3 Pt 1):575-82.

 

Netherton syndrome (NS) is a severe skin disease caused by loss-of-function mutations in SPINK5 (serine protease inhibitor Kazal-type 5) encoding the serine protease inhibitor LEKTI (lympho-epithelial Kazal type-related inhibitor). Here, we disclose new SPINK5 defects in 12 patients, ...

Last Updated: 13 Feb 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Netherton syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.
 

Author(s): Banu Bingol, Seval Tasdemir, Ziya Gunenc, Faruk Abike, Semra Esenkaya, Safak Tavukcuoglu, Hakan Berkil

Journal: J. Assist. Reprod. Genet.. 2011 Jul;28(7):615-20.

 

Last Updated: 26 Aug 2011

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy for Netherton Syndrome
 

Status: Not yet recruiting

Condition Summary: Netherton Syndrome

 

Last Updated: 17 Oct 2013

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Clinical Trial Using Humira in Netherton Syndrome
 

Status: Recruiting

Condition Summary: Netherton Syndrome

 

Last Updated: 20 Jun 2014

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Natural History and Biological Study of Netherton Syndrome
 

Status: Not yet recruiting

Condition Summary: Netherton Syndrome; Healthy

 

Last Updated: 6 Mar 2014

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