Learn About Netherton Syndrome

What is the definition of Netherton Syndrome?

Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature.

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What are the causes of Netherton Syndrome?

Netherton syndrome is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is found in the skin and in the thymus, which is a gland located behind the breastbone that plays an important role in the immune system by producing white blood cells called lymphocytes. LEKT1 controls the activity of certain serine peptidases in the outer layer of skin (the epidermis), especially the tough outer surface known as the stratum corneum, which provides a sturdy barrier between the body and its environment. Serine peptidase enzymes are involved in normal skin shedding by helping to break the connections between cells of the stratum corneum. LEKT1 is also involved in normal hair growth, the development of lymphocytes in the thymus, and the control of peptidases that trigger immune system function.

How prevalent is Netherton Syndrome?

Netherton syndrome is estimated to affect 1 in 200,000 newborns.

Is Netherton Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Netherton Syndrome Local Doctors?
Elite
Highly rated in
24
conditions

St John's Institute Of Dermatology

London, ENG, GB 

Jemima Mellerio is in London, United Kingdom. Mellerio is rated as an Elite expert by MediFind in the treatment of Netherton Syndrome. She is also highly rated in 24 other conditions, according to our data. Her top areas of expertise are Netherton Syndrome, Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa, and Dominant Dystrophic Epidermolysis Bullosa.

Elite
Highly rated in
58
conditions
Dermatology
Pediatrics

Outpatient Center In Northbrook

1131 Techny Rd 
Northbrook, IL 60062

Amy Paller is a Dermatologist and a Pediatrics doctor in Northbrook, Illinois. Dr. Paller has been practicing medicine for over 44 years and is rated as an Elite doctor by MediFind in the treatment of Netherton Syndrome. She is also highly rated in 58 other conditions, according to our data. Her top areas of expertise are Atopic Dermatitis, Nonbullous Congenital Ichthyosiform Erythroderma, Netherton Syndrome, and Lamellar Ichthyosis. She is licensed to treat patients in Illinois. Dr. Paller is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
26
conditions

Université Paris Descartes, Sorbonne Paris Cité

Paris, FR 

Alain Hovnanian is in Paris, France. Hovnanian is rated as an Elite expert by MediFind in the treatment of Netherton Syndrome. He is also highly rated in 26 other conditions, according to our data. His top areas of expertise are Netherton Syndrome, Olmsted Syndrome, Judge Misch Wright Syndrome, and Dystrophic Epidermolysis Bullosa.

What are the latest Netherton Syndrome Clinical Trials?
Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children
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A Randomized Double-blinded Pilot Study of the Efficacy and Safety of Dupilumab Versus Placebo in Patients With Netherton Syndrome
Who are the sources who wrote this article ?

Published Date:updated Last, March

Published By: National Institutes of Health

What are the Latest Advances for Netherton Syndrome?
A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.
Netherton syndrome associated to Candida parapsilosis otomycosis.
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Safe and effective use of alitretinoin in children with recalcitrant hand eczema and other dermatoses - a retrospective analysis.