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.
 

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.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 27 free, full-text research articles on human participants. First 3 results:

Skin Biopsy in Netherton Syndrome: A Histological Review of a Large Series and New Findings.
 

Author(s): Stephanie Leclerc-Mercier, Christine Bodemer, Laetitia Furio, Smail Hadj-Rabia, Laetitia de Peufeilhoux, Lisa Weibel, Anne-Claire Bursztejn, Emmanuelle Bourrat, Nicolas Ortonne, Thierry Jo Molina, Alain Hovnanian, Sylvie Fraitag

Journal: Am J Dermatopathol. 2016 Feb;38(2):83-91.

 

Netherton syndrome (NS) is a severe genetic skin disorder, with often delayed or misleading clinical signs. The histological features of skin biopsies, usually described as a psoriasiform hyperplasia, have only been reported in isolated case reports or small case series. The aim of ...

Last Updated: 30 Jan 2016

Go To URL
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.
 

Author(s): Liliana Guerra, Paola Fortugno, Cristina Pedicelli, Cinzia Mazzanti, Vittoria Proto, Giovanna Zambruno, Daniele Castiglia

Journal: Acta Derm. Venereol.. 2015 Jul;95(6):720-4.

 

Ichthyosis linearis circumflexa (ILC) presents as serpiginous and migratory erythematous patches with double-edged scales. ILC is rarely an isolated skin manifestation, but most commonly a part of Netherton syndrome (NS). NS is caused by SPINK5 mutations, which lead to absent or sometimes ...

Last Updated: 24 Jun 2015

Go To URL
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome.
 

Author(s): Maraya de Jesus Semblano Bittencourt, Emanuella Rosyane Duarte Moure, Olga Ten Caten Pies, Alena Darwich Mendes, Monique Morales Deprá, Anna Luiza Piqueira de Mello

Journal: An Bras Dermatol. ;90(1):114-6.

 

Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic. We report the case of a ...

Last Updated: 12 Feb 2015

Go To URL

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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Therapy for Netherton Syndrome
 

Status: Recruiting

Condition Summary: Netherton Syndrome

 

Last Updated: 18 Oct 2016

Go to URL
The Efficacy and Safety of Secukinumab in Patients With Ichthyoses
 

Status: Recruiting

Condition Summary: Ichthyosis; Autosomal Recessive Congenital Ichthyosis; Lamellar Ichthyosis; Congenital Ichthyosiform Erythroderma; Epidermolytic Ichthyosis; Netherton Syndrome

 

Last Updated: 8 Sep 2017

Go to URL