Welcome to Netherton Network, part of the Vereniging voor Ichthyosis Netwerken.

This  foundation was established as an initiative from Netherton Syndrome patients in The Netherlands. In The Netherlands we all visit the Netherton Expertise Center in Rotterdam. The patient association Vereniging voor Ichthyosis Netwerken collects donations for people with the skin condition Ichthyosis. In The Netherlands it is called an ‘ANBI foundation’, a foundation for the benefit of public welfare.

The patient assosioation was raised to unite patients and to support them when needed.

You can donate by using the donate button on the front page, in the main menu. It will lead you to the website of Vereniging voor Ichthyosis Netwerken

 

Netherton Syndrome is an inherited autosomal recessive disorder. This means that both the parents of a child with the syndrome are healthy carriers of a mutated gene. In each pregnancy where both parents are healthy carriers there is a 25 per cent risk that the child will inherit the disease. In 25 per cent of the cases the child will neither be affected nor be a carrier of the mutated gene. In 50 per cent of the cases the child will inherit one recessive mutant gene, and like the parents, he or she will be a healthy carrier.

If a parent with an autosomal recessive disorder (a parent who has Netherton Syndrome), in other words a person who has a double set of the recessive mutant gene for the condition, has children with a non-carrier (healthy), all their children will inherit only one of the two recessive genes and be healthy carriers. If an individual with an inherited autosomal recessive disorder has a child with someone who has one copy of the defective gene (healthy but carrier), there is a 50 per cent risk that the child will develop the disorder, while in 50 per cent of the cases the child will be a healthy carrier.

Netherton Syndrome is also known as the Comel Netherton Syndrome. In 1958, Earl W Netherton describes a first case of a four year old girl. This girl has a very red and scaly skin, and she also has an unusual hair disorder. He calls this strange hair growth ‘Bamboo Hair’, as that is what he saw through his microscope: a bamboo structure.

Nine years earlier, the Italian dermatologist Comel described a 23 year old woman with round and scaly patches on her skin, which he called ‘Ichthyosis Linearis Circumflexa’. The symptoms of these two patients were found to be related. Similar cases were described in the ‘60’s.

Netherton Syndrome is a very rare disease. In Holland there is a population of one in a million people, who is affected with the syndrome.  From online information, we know the same number of affected people in Sweden is also one in a million.  Dermatologists suspect that there are more patients with this skindisorder, they think that the diagnose is often missed. Therefore it is important to be informed about this disease. Netherton Syndrome can cause an early infant death, as their skin is very vulnerable.

Netherton Syndrome, and also other forms of Ichthyosis, require very good skin care. The skin is very dry and there is danger of dehydration. Infections should be closely monitored, because of the weak immunesystem.  You should inform other people about your skin condition and about allergies. Patients, parents, people at school and specialists should all work together.

Netherton Syndrome is a very rare condition. In the past and even now it is misdiagnosed regularly, because of  lack of experience and knowledge in the medical world. In the past, children with the syndrome often were diagnosed with other diseases like  Leinder Syndrome, Zinc deficiency or erythrodermisch eczema (scaling and red skin).

 

The diagnosis of NS is based on the clinical appearance in newborns. In Holland, recently, there is a protocol drawn up on how to take care of a baby with a red skin. In addition the ratio of salts in the body of the baby is being monitored, because there may be faster signs of dehydration. IgE, an index for allergy, is also included in the study.

 

Hair growth abnormalities are visible under a normal microscope, but the growth abnormality with the typical swelling in certain parts of the hair is not always already present at birth. It is therefore important to investigate hair of different parts of the head, and to repeat the search in the first months of the infant’s life regularly.

 

The diagnosis can be confirmed by the absence of the protein LEKTI in a skin biopsy, or by genetic research. If a defect is found in the gene set  SPINK5 prenatal diagnostics is possible.

The Dutch patient group is very diverse. There are people of different gender, severity of the condition, in age. All unique people, each with their own story nut there are also similarities.

 

In one of the first group meetings it turned out that all patients are shorter than the expected, based on height of the parents. Most Dutch Netherton patients have allergies or are hypersensitive to food and other things. Hay fever and asthma were mentioned. A number of patients reacted adversely to topical hormone treatments, resulting in adrenal insufficiency. In some patients this could be treated and cured, in others recovery was not possible.

 

A large number of patients are having problems with the growth of hair, and in some cases these problems are very severe. But there are also patients with normal hair growth. Skin infections are common and are difficult to treat. Most patients are quite used to hospital visits. The children and young people all go to school, but sometimes need extra support. The adult patients have a job or do volunteering.  Some of the patients have a social benefit, because of their disabilities. Sad is the story of one of the patients, who could not continue her study because of her illness. She wanted to follow her passion of working with children. Her health seemed to be too vulnerable and the education system was not set up to offer her the support she would need to continue.

 

The Dutch patient group meets on regular basis, often together with Professor in Dermatology Suzanne Pasmans. She has a chair at the pediatric dermatology department at the Erasmus University in Rotterdam. She is working in multi-disciplinary teams on a regular basis. In this context she evaluated the entire group of Dutch Netherton Syndrome patients.  Patients receive regular follow uos in order to get a complete picture of the syndrome. With the increased knowledge of Netherton Syndrome, doctors are now assuming that Neterton Syndrome is not just a skin condition, but instead occurs in the whole body. This is called a ‘systemic disorder’.

 

There is no cure for the syndrome, but symptoms can be relieved by treatment. To achieve optimal results, it is important that different doctors and specialists work together.

 

Newborns need to be carefully monitored and may require incubator care. Hospital care may also be needed in through adult life. At young age, it is important to control the salt and fluid balance in the body. Due to their skin, children can suffer from dehydration quickly. Diarrhea and vomiting are also a risk for fluid balance, even later in life. The skin should be moisturized several times a day, with a fat ointment. It is important to pay close attention to infections, including minor infections. Untreated infections can lead to life-threatening situations. Sometimes there is pain medication needed.

 

Nutrition can be a major problem, especially in the first year of life, and these problems may continue later in life. Because of food allergies it may be necessary to consult with dietitian. To avoid allergic reactions, it is important that everyone who has to take care of the child (at home or at school or in other situations), are working together as a team to make the risk of these problems as small as possible. Any caretaker of the child should be aware of allergies and how to deal with it.

 

Skin care routines are important. Effective routines are highly personal, what works for one person does not need to work for somebody else.  Caring for the skin and hair will take a long time every day, but it is very important.

 

 

Netherton Syndrome is also known as the Comel Netherton Syndrome. In 1958, Earl W Netherton describes a first case of a four year old girl. This girl has a very red and scaly skin, and she also has an unusual hair disorder. He calls this strange hair growth ‘Bamboo Hair’, as that is what he saw through his microscope: a bamboo structure.

Nine years earlier, the Italian dermatologist Comel described a 23 year old woman with round and scaly patches on her skin, which he called ‘Ichthyosis Linearis Circumflexa’. The symptoms of these two patients were found to be related. Similar cases were described in the ‘60’s.

Netherton Syndrome is a very rare disease. In Holland there is a population of one in a million people, who is affected with the syndrome.  From online information, we know the same number of affected people in Sweden is also one in a million.  Dermatologists suspect that there are more patients with this skindisorder, they think that the diagnose is often missed. Therefore it is important to be informed about this disease. Netherton Syndrome can cause an early infant death, as their skin is very vulnerable.

Netherton Syndrome, and also other forms of Ichthyosis, require very good skin care. The skin is very dry and there is danger of dehydration. Infections should be closely monitored, because of the weak immunesystem.  You should inform other people about your skin condition and about allergies. Patients, parents, people at school and specialists should all work together.

Soon after a baby with Netherton Syndrome is born, it becomes clear that the skin is different than the skin of other new born babies. The skin is red, weepy, thin and scaly. There might be problems in absorbing nutrients, what causes failure to thrive: the baby is vomiting and has diarrhea, this may be caused by a food allergy. Because of the loss of water through the skin and the vomiting and diarrhea, the salt balance in the little body is upset.  It leads to elevated sodium levels in the bloodstream. There is a great vulnerability for skin infections and other infections. Extra care is necessary for a baby with Netherton Syndrome.

The skin of a child with Netherton Syndrome

In the first years the skin is red, thin scaly and sometimes weepy. Sometimes, it seems that the whole skin peels off and renews in one day.  This condition, known as Congenital Ichthyosis Erythroderma,  may persist the first couple of years. There are also cases in which the skin improves. Many children with Netherton Syndrome develop circular lesions on the skin, sometimes with sore scaly edges. This is known as Ichthyosis Linearis Circumflexa, characteristic for Netherton Syndrome. The skin is sometime calm, at other times it flames up. There is no explanation, it is suspected to be related to stress and infections.

Atopic eczema (hypersensitivity) like diaper rash or cradle cap are also common, but it will be difficult to distinguish from the scaly red skin (CIE), common for Netherton Syndrom. Eczema often causes severe itching, which can interfere with both the child and the parents sleep. Older children may also develop rashes, as scratching and the broken frail skin lead to easy inflammation. The lymph nodes are often swollen because of the many skin infections.

Because the skin barrier does not function properly, the skin’s natural protection against heat and cold is affected. Warm weather, a stay in a hot car, physical exercises and playing can easily lead to overheating, a serious situation. In the winter, people with Netherton Syndrome often have cold hands and feet. They may even complain about the temperature on a regular summer day…..

Hair

Netherton Syndrome is associated with hair defects, on the head, but also in eyelashes and eyebrows. The hairschaftshows an abnormality under a microscope, it bulges, similar to the swelling of a bamboo node. This node makes the hair fragile and easy to break, mostly close to the scalp.  It s therefore called bamboo-hair, or Trichorrhexis Invaginata in medical terms. There is a variety in severity of this condition. By some people, only a few hair fibers are affected, while other patients have no hair at all, or just very short hair, broken close to the scalp.

Accumulated skin scales on the scalp can be combed out.

The immune system

People with Netherton Syndrome often have an increased level of IgE in their blood. IgE shows that the body makes antibodies against foreign substances, substances that trigger allergies. The cause of the increased IgE lies in the maturation of white bloodcels in the thymus.  The thymus does not function well in Netherton Syndrome. Allergy prick tests and blood tests can be used tot determine allergies.

Most people with Netherton syndrome have food, pollen or animal dander allergies that show up in the form of eczema or nettle rash, or affect them with a respiratory disease, such as asthma of hay fever. Food allergies may cause diarrhea and vomiting, especially in newborns. In  many cases , family members also have an allergy , asthma or eczema.

Neonates may need a special diet, instead of breastfeeding or milk substitutes. Sensitivity to fish, eggs, gluten, nuts and certain vegetables are common. Most often, allergies remain even in adulthood.

Usually children with Netherton Syndrome gain weight and length slowly, they often end  below the average in the family. Both short stature and low weight may be a consequence of food allergy or infections.

Netherton Syndrome is caused by a defect or a change in the SPINK-5 gene. This gene is located on the long arm of the fifth chromosome, 5q. This gene should take care of the production of the LEKTI protein. This protein is needed in one of the outer layers of the skin, the epidermis.

People who have Netherton’s Syndrome don’t have the LEKTI protein. This protein is needed as a cement between the skin cells. The lack of LEKTI causes a red and scaly skin. The skin renews itself too fast. The barrier function of the skin is also damaged. The ability to protect against infections is increased, and it makes the body easily lose its fluids. Dehydration is a well known complication. The damaged barrier also makes it easier for medication in ointments to enter the body. For example, a steroid ointment which is used on this permeable skin can give complications inside the body.

LEKTI is needed for normal hair growth.

LEKTI is also known to be part of the thymus, the organ that makes our immune cells. Therefore people with Netherton have often allergies and they easily get bacterial or viral infections.

The lack of LEKTI causes the characteristic symptoms of Netherton Syndrome: the red and scaly skin, the bamboo hair and the vulnerability for infections and allergies.

 

 

Netherton Syndrome is also known as the Comel Netherton Syndrome. In 1958, Earl W Netherton describes a first case of a four year old girl. This girl has a very red and scaly skin, and she also has an unusual hair disorder. He calls this strange hair growth ‘Bamboo Hair’, as that is what he saw through his microscope: a bamboo structure.

Nine years earlier, the Italian dermatologist Comel described a 23 year old woman with round and scaly patches on her skin, which he called ‘Ichthyosis Linearis Circumflexa’. The symptoms of these two patients were found to be related. Similar cases were described in the ‘60’s.

Netherton Syndrome is a very rare disease. In Holland there is a population of one in a million people, who is affected with the syndrome.  From online information, we know the same number of affected people in Sweden is also one in a million.  Dermatologists suspect that there are more patients with this skindisorder, they think that the diagnose is often missed. Therefore it is important to be informed about this disease. Netherton Syndrome can cause an early infant death, as their skin is very vulnerable.

Netherton Syndrome, and also other forms of Ichthyosis, require very good skin care. The skin is very dry and there is danger of dehydration. Infections should be closely monitored, because of the weak immunesystem.  You should inform other people about your skin condition and about allergies. Patients, parents, people at school and specialists should all work together.