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Netherton Syndrome

Form of ichthyosis affecting skin, hair, and immune system, characterized by red scaly skin, bamboo hair (fragile ridged hair), and increased susceptibility to allergies, asthma, and eczema.

What Is Netherton Syndrome?

Netherton syndrome is a less common form of ichthyosis. It generally affects the skin, hair and immune system.

Infants with Netherton syndrome are usually born with red, scaly skin that may leak fluid. In older children and adults, the scaling of the skin may have a circular pattern. Bamboo hair is common; hair that has ridges or knots similar to bamboo stalks, and is fragile and breaks easily. People with Netherton syndrome are also more prone to allergies, asthma and eczema.

Longterm Course

May be erythrodermic at birth; lifelong involvement with fluctuation in severity; extent of erythema and hair fragility may improve with age; increased risk for bacterial and fungal infections of skin; normal longevity

Key Findings

Skin
Generally red; characteristic serpiginous, double-edged, migratory scale or peeling (ILC); mild epidermal thickening or ridging often seen at flexures; itching is common; not all individuals with ILC have associated findings; some individuals may not have ILC
Hair
Trichorrhexis invaginata leading to fragile, short hair

Associated Findings

Immunologic
Elevated serum IgE clinical features of atopic dermatitis in 1/3; may have increased incidence of hives and other allergic problems such as anaphylactic reactions to foods
Nutrition
Short stature and failure to thrive in some

Clinical Resources

Clinicians seeking to confirm a diagnosis should visit the Edvyce portal to submit a case to experts in ichthyosis .
Learn more about FIRST’s Resources for individuals and families affected by Ichthyosis?
Information about current clinical trials and research studies can be found here.

Community Story

A New Beginning

Arya G.
North Vancouver, BC Canada

What Causes Netherton Syndrome?

Netherton syndrome is not contagious. It is caused by a change or variant in the SPINK5 gene so it does work as it should. As a result, there are not enough outer layers of skin (stratum corneum). The skin is too thin and breaks down easily; it can also lead to abnormal hair growth and immune system changes that can make allergies, asthma and eczema more likely. People with Netherton syndrome inherit two copies of the altered SPINK5 gene – one from each parent

How Common is it?

Other names you might hear it called

Bamboo hair syndrome
Comel-Netherton syndrome
Ichthyosis erythroderma. With hypotrichosis and hyper-IgE
Ichthyosis linearis circumflexa

What are the Signs & Symptoms?

Infants with Netherton syndrome may be born prematurely. They may

Have scaly or reddened skin (erythroderma)
Be born with a thick shell-like covering of the skin (collodion membrane) that usually sheds within the first weeks of life
Develop recurrent infections of the skin or blood (sepsis)
Have very little hair
Be at risk of dehydration or have higher than normal sodium levels in the blood due to excessive loss of water and fluid from the skin’s surface
Have difficulty maintaining a normal body temperature

Older children and adults with Netherton syndrome tend to have red, scaly skin throughout their lives. The scaling may have a circular look to it and be itchy. People with Netherton syndrome may also have

Thin or fragile hair that breaks easily called Bamboo hair
Frequent bacterial skin infections, as well as viral infections including herpes and the human papilloma virus due, in part, to how thin and broken the skin is
Infections of the bloodstream (sepsis)
Skin buildup in the ears that can affect their hearing
Difficulty moving hands, arms, feet and legs because of skin tightness
Immune system-related problems, including food allergies, asthma and eczma are common
Inability to sweat

It’s not uncommon for babies or children with Netherton syndrome to be misdiagnosed with atopic dermatitis (red, itchy patches of skin), cradle cap, psoriasis, or ARCI-CIE at first.

What to Expect

Infants and children affected by Netherton syndrome may not grow or gain weight as would usually be expected.
Developing a daily routine to support the viability of the skin is important, but may be a bit of trial and error at first. You may need to try a variety of skin care products and approaches before finding the one that gives you/your child the best results.
Every person’s experience with Netherton syndrome is unique. In general, the skin is red, dry and itchy and can peel. How severe the condition will be varies by person. While you may hear about treatments that were a sure win for some people, everyone is different. For a complete product listing, send an email to info@firstskinfoundation.org.
It’s important to find a dermatologist who knows how to treat Netherton syndrome, and will coordinate with other specialists, including asthma/allergy, ear, nose and throat, and primary care to optimally manage your care.
While you can live a fulfilling life with Netherton syndrome, you may need to be flexible and make adjustments.

What is the Treatment?

Treatment for Netherton syndrome and related health issues can be challenging.

Skin Care

Bathing frequently using a mild, soap-free cleanser to soften the skin is helpful for many people
Applying moisturizers to the skin after bathing and throughout the day can reduce skin dryness and help the skin be more flexible and comfortable. In particular, regular use of emollients and moisturing creams containing petrolatum or lanolin and/or skin barrier repair therapies with ceramides or cholesterol is often recommended.
Other topical creams and treatments, for example thaopical calcineurin inhibitors (pimecrolimus and tacrolimus) may be helpful, but need to be used with caution and sparingly as some of the medications can be absorbed into the bloodstream.
Topical steroids are sometimes recommended, but use should be limited and not continous. For example, itch and discomfort might be treated with a few days of steroids. Steroid substitutes call calcineurin inhibitors may also be considered, but they, too, can be absorbed and should not be used over large body surface areas or chronically.
Because the skin is so thin, treatments to exfoliate or remove scale, such as the alpha-hydroxy acids (lactic acid, glycolic acid), salicylic acid and oral retinoids are not helpful in the management of this disorder, and may actually aggravate the symptoms.

For tips on skin care, visit Skin Care Tips

Other measures to manage Netherton syndrome may include

Watching out for possible infections. Ask your doctor’s office if you have concerns.
Good nutrition is important, as is a higher calorie diet for young children who burn more calories than their same-sized peers because of the loss of water through the skin.
Oral antihistamines to help with itchy eczema.
Topical or oral anitbiotics to treat infection(s).
Medications for allergies or asthma; for people with food allergies or sensitivities, avoiding certain foods seems to help the skin – What about recent reports of systemic immunomodulatory medications?

Research is ongoing to improve treatments and ultimately to find a cure for Netherton Syndrome. To learn more about ichthyosis research or find out how you can take part in a research study, go to Clinical Trials & Patient Recruitment Opportunities .

Things to Keep in Mind

Netherton syndrome is a chronic condition that needs lifelong, daily care. Researchers are trying to better understand Netherton syndrome and find better treatments.
It is not contagious. No one can catch it by touching or being close to you or to your child.
People (some well meaning, others less so) may stare at you, or at your child with HI, and ask questions like “What’s wrong with your skin/your child?” or “Does it hurt?”.

Parents of a child with Netherton syndrome may feel a need to be very protective of them.
- Do your best to treat your child in the same way as unaffected children in the family, while allowing for the fact that he or she needs a special skin care regimen and must take certain precautions. Try to hold them to the same expectations and encourage them to follow their dreams and ambitions just as you do any other children.
- Reinforce in your child with Netherton syndrome that their skin condition does not define who they are or what they can achieve in their lives.
- Talking with other parents and families can be helpful.

Questions to Ask

What makes Netherton syndrome different from other types of ichthyosis?
Why do babies and kids with Netherton syndrome gain weight so slowly?
What are the best treatments for Netherton syndrome?
What’s the link with allergies, asthma and eczma?
What tends to make Netherton syndrome worse? Are there triggers?
Are there activities I need to be more careful about, especially given how thin the skin is?
How can I best protect myself from the sun?
Can children with Netherton syndrome swim in pool, lake or ocean water?
Is the sun more harmful?
Where can I find support or other parents to talk to?