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.  

What causes it?

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?

Netherton syndrome is very rare. According to the National Organization of Rare Disorder, there are about 150 reported cases , with the total population of people living with Netherton estimated to be fewer than 5,000.

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 adjustements.

Treatments and Self-Care

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?”.
  • Other children may tease, bully  or exclude your child because of their appearance.
  • Explaining to people that you, or your child, were born with Netherton syndrome may help them to understand that you’re not sick, it’s not something they can catch, and that you live with the condition every day.
  • Although your skin may look different from other people’s, you can still do most things that other people do.
  • You are not responsible for other people’s reactions to your or your child’s appearance, nor should you feel obligated to explain yourself.
• 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.

To learn more about managing ichthyosis, visit Tools & Tips for Living with Ichthyosis.

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?

• To learn more about ichthyosis research or find out how you can partner with FIRST members on a research study, visit the current clinical trials and research studies section on FIRST's website.  »
• Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis. »
• Learn more about FIRST's Support Services - connecting affected individuals and families with each other. Or call the FIRST office at 800-545-3286. »

Results of genetic tests, even when they identify a specific mutation, can rarely tell how mild or how severe a condition will be in any particular individual. There may be a general presentation in a family or consistent findings for a particular diagnosis, but it's important to know that every individual is different. The result of a genetic test may be "negative," meaning no mutation was identified. This may help the doctor exclude certain diagnoses, although sometimes it can be unsatisfying to the patient. "Inconclusive" results occur occasionally, and this reflects the limitation in our knowledge and techniques for doing the test. But we can be optimistic about understanding more in the future, as science moves quickly and new discoveries are being made all the time. You can participate in research studies and also receive genetic testing through the National Ichthyosis Registry at Yale University or for more information about genetic tests performed you can visit GeneDx, www.genedx.com.

Download a PDF version of this information