Netherton syndrome is a rare and severe skin condition. Clinical experience showed considerable psychosocial burdens among patients and their families. Their (neuro)psychological functioning was investigated by Drs Josette Versteegh, psychologist at the Erasmus University Medical Center in Rotterdam, and others.
She concluded, that compared with normative data, Netherton syndrome patients showed neuropsychological and psychological problems.
Click to read the article on pubmed.
This page is under construction
A patient journey tells about the stages in life and the things patients and their parents are facing. Taking care of somebody with Netherton syndrome is also a journey for healthcare professionals.
In this video Saskia and her daughter talk about living with Netherton syndrome.
Our patient journey tells about the patients needs, but also about the needs of parents and siblings.
This page is under construction.
Neonatal Erythroderma means that a baby is born with a red skin, or that a baby develops a red skin shortly after birth. This might indicate a life threatening underlying disease.
Through systematic literature search more than 50 diagnoses could be extracted, describing skinproblems or primary immunodeficiencies.
You can also download it as a PDF:
Baby’s with Netherton Sydrome are mostly born with a red skin, or developing it shortly after birth.
We are working on an update of this information!
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.
If you would like a pdf of the list, please use the hyperlink, so you can download and print te list:
We are proud to present you this first list of subjects, gathered for The International Netherton Congress. We love to get your imput on this list in the discussion on november 18.
| Domain | Outcome | Explanation |
| Skin | Scaling | Flaking of the skin, medical term is desquamation |
| Inflammation of the skin | Red skin (erythema), rash, swelling of the skin | |
| Wounds | Open skin, oozing, medical terms are ulceration, exudation, excoriation | |
| Pustulosis | Large pimple-like bumps, often many together | |
| Ichthyosis linearis circumflexa | Typical skin characteristics of Netherton (large patches with linear guirlande like borders of red, scaly skin) | |
| Disease activity | How the visibility and burden of Netherton changes over time | |
| Thickening of the skin | Medical term is hyperkeratosis | |
| Dry skin | Medical term is xerosis | |
| Pigmentation | Darker or lighter color of the skin | |
| Blisters | Bubble on the skin filled with fluid, medical term is vesiculation | |
| Eczema | Medical term is atopic dermatitis | |
| Keratosis pilaris | Small rough-feeling bumps around body hairs, sometimes called ‘chicken skin’ | |
| Skin odor | Smell of the skin, can be unpleasant | |
| Sunburn | Red, warm and sore skin caused by too much sun, medical term photosensitivity | |
| Skin cancer | The risk of skin cancer due to Netherton or treatment | |
| Collodion | A tight, yellow, shiny layer wrapping a baby at birth that is shedded the weeks after birth | |
| Neonatal erythroderma | Red baby, baby born with (almost) completely red skin | |
| Sensations | Itch | Severity, intensity, duration, consequences, scratching, medical term is pruritus |
| Pain | General and skin pain, severity, duration, consequences | |
| Unpleasent sensation of the skin | Uncomfortable skin, sensitive skin, tense skin | |
| Temperature | Problems with body temperature regulation | Overheating, reaction to hot or cold weather, medical terms are hypothermia, hyperthermia |
| Impaired sweating | Difficulty with sweating, less sweating, medical term is hypohydrosis | |
| Treatment | Knowledge about treatment | Including treatment misconceptions |
| Treatment adherence | Taking your medications correctly, following your prescribed treatment correctly | |
| Duration of treatment response | The time period that your mediation is effective | |
| Satisfaction with treatment from patient/caregiver’s perspective | How happy you are with your or your child’s/partner’s treatment | |
| Satisfaction with outcome from patient/caregiver’s perspective | How happy you are with the result or effect of your or your child’s/partner’s treatment | |
| Hospital stay | Staying in the hospital for a longer time | |
| Mortality | Death | Death due to Netherton |
| Side-effects of treatment | Local side effects of treatment | For example red skin after an injection at the injection site due to treatment |
| Systemic side effects of treatment | For example weight gain, Cushing due to treatment | |
| Short-term side effects of treatment | For example nausea after taking medication due to treatment | |
| Long-term side effects of treatment | For example growth problems, stretch marks due to treatment | |
| Vitality | Sleep problems | Difficulty falling asleep, waking up at night, needing sleeping pills |
| Fatigue | Feeling tired without a clear reason | |
| Energy level | How strong and vital a person feels to do physical activities | |
| Sports and leisure participation | Participating in sports and other activities persons do in their free time | |
| Mobility | Being able to move your body, bending arms and legs, stiffness | |
| Mental functioning | Interoception | Feeling what is going on inside your body, such as knowing when you feel hot, thirsty or tired |
| Intelligence | IQ, cognitive development, developmental delay | |
| Neuropsychological functioning | Complex mental processes such as planning and reasoning | |
| Concentration and attention | Think carefully about something you are doing and thinking about nothing else | |
| Memory | Storing and retrieving information in your mind | |
| Personality and temperament | A person’s characteristic way of thinking, feeling, and behaving | |
| Emotional functioning | Mental health | For example: depression, anxiety, trauma, anger, sadness |
| Mental health of parents or spouses | For example: depression, anxiety, trauma, anger, sadness | |
| Stress | Feeling emotional of physical tension, frustration, or nervousness | |
| Coping | A typical way to react to an event for a certain person | |
| Body image | How you see your own body | |
| Emotional problems related to appearance | How you feel about how you look | |
| Self-esteem | Your sense of your own worth, value, and abilities | |
| Disease- and treatment related anxiety | Fear related to Netherton or treatment of Netherton (fear for the impact of Netherton on your life, fear for side-effects of treatment) | |
| Anxiety related to social interactions | Fear related to interactions with other persons (fear of being excluded, fear about what others may think about you) | |
| Irritability (in infants) | A baby that is not feeling well, crying a lot and being difficult to soothe, grumpy, fussy, due to Netherton or treatment of Netherton | |
| Loneliness | Feeling alone | |
| Social functioning | Bullying and teasing | Unwanted aggressive behavior from others |
| Stigmatization | That many people unfairly regard you as being bad or having something to be ashamed of | |
| Social exclusion | Other people making you feel isolated and unimportant (being stared at, receiving unpleasant remarks, being ignored) | |
| Rejection by others | Excluding a person from a social situation on purpose (for example at the playground in school) | |
| Personal relationships | Difficulties in approaching others | Finding it hard to make contact with other persons |
| Personal relationships | Relation with other persons | |
| Contact with peers | Contact with people of your own age (for example with classmates) | |
| Establishing and maintaining intimate relationships | Having a romantic or sexual relationship | |
| Skin contact | Cuddling, hugging, being held | |
| Support from family and friends | That you feel that you are cared for and assisted by family and friends | |
| Family functionig | Family impact | The effect of Netherton on the family (partner, parents, children) |
| Protective behavior (of parents or partner) | Thrying to protect the person with Netherton from harm, hurt, unhappiness or bad experiences | |
| Being or becoming independent | Not needing help or money from someone else (for example parents), not being or feeling controlled by other people | |
| Parent-child relation | The relation between parents and children, affection, attachment, parenting | |
| Parents worry about children with Netherton | The worries parents have about their children with Netherton, for their health, wellbeing, development, future | |
| Parents feeling guilty | Parents feeling guilty about the child having Netherton | |
| Siblings of child with Netherton | How the siblings of a child with Netherton are doing, they may receive less attention from parents or worry about their sibling with Netherton | |
| Family planning | Whether a person can and wants to have children, related to Netherton | |
| Societal functioning | Functioning in school | How children do in school, school attendance, performance in school, behavior in school |
| Learning problems | Problems with learning a specific skill, such as dyslexia or dyscalculia | |
| Employment status | Having a (paid) job, working hours, receiving social benefit | |
| Career possibilities | The choices a person has in choosing a job related to having Netherton (not in food industry due to scaling, not as hair dresser due to allergy) | |
| Workplace discrimination | Being treated badly or different at work because of having Netherton, by co-workers, managers, and others | |
| Financial burden | Having more costs because of Netherton (paying for medication, costs of extra housework, travelling to the hospital, also for parents of a child with Netherton) | |
| Loss of income | Receiving less money due to Netherton (not being able to work, working less hours, having less career opportunities, also for parents of a child with Netherton) | |
| Health insurance | Health insurance not paying for all treatments, being expensive, getting accepted | |
| Home care for housework | Having someone (paid by the government) to do housework or care for you at home, getting acces to this service | |
| Daily life functioning | Extra housework | Doing more vacuum cleaning, laundry, and other housework due to Netherton and treatment (scaling, cream in clothes) |
| Travel | Problems with travel due to Netherton (staying elsewhere, vacation, using public transport) | |
| Carrying out daily routine | How Netherton influences the things you do every day | |
| Clothing choices | How Netherton influences your clothing (hiding skin, no dark clothing because of scaling, soft clothing) | |
| Time spent on caring for skin | How much time a person with Netherton spends on skin care (cleaning skin, applying cream on skin) | |
| Caring for skin is unpleasant | Skin care being uncomfortable or making you unhappy (bad smell of cream, cream is painful or unpleasant to apply) | |
| Hair care | Brushing and washing hair, styling hair | |
| Hair | Hair growth | How fast your hair gets longer |
| Hair density | How many hairs you have on your head | |
| Hair thickness | How thick a single hair is | |
| Breakability of hair | How easily your hair breaks | |
| Hair structure | The way your hair is build and looks | |
| Hair gloss | How shiny your hair is | |
| Physical development | Growth | How fast a person gets longer, also growth delay, growth impairment, stunted growth |
| Length | How long you are | |
| Weight | How heavy you are | |
| Head circumference | A measurement of a person’s head around its largest area | |
| Timing of puberty | At what age your body begins to develop and change as you move from child to adult, delayed puberty | |
| Central nervous system problems | When the brain or nerves do not function as they should, limiting your health and functioning | |
| Failure to thrive (baby) | When a baby’s weight or weight gain is seriously lower than it should be | |
| Nutrition | Nutritional status | The intake of nutrients (vitamins, protein etc.) and use of those nutrients in your body |
| Dehydration | When your body does not have enough water to carry out its normal functions | |
| Reflux in infants | When a baby often throws up something they have just eaten with stomach acid, whithout being ill | |
| Apetite | Wanting to eat or drink | |
| Infections | Skin infections | Infections of the skin, such as bacterial infections, viral infections, fungal infections, sterile infections |
| Non-skin related infections | Infections of any other organ than the skin, such as infections of the lungs, eyes, blood, other organs | |
| Allergies | Food allergies | Abnormal reaction to specific foods of your immune system, can be mild or very serious (common foods are peanut, nuts, milk, egg) |
| Allergies | Abnormal reaction to specific substances of your immunne system, such as housedust mite, foods, substances such as latex or antibiotics | |
| Hay fever | An allergy caused by pollen from trees and grasses or dust, causing a runny nose and watery eyes | |
| Asthma | A disease in which your airways narrow and swell, making breathing difficult | |
| Hives | Many round, red, swollen bumps on the skin that itch very much | |
| Assessments | Vital signs | Measurements of the body’s most basic functions, such as blood pressure, temperature, heart rate |
| Blood assessment | When a blood sample is checked to measure substances in the blood, looking at blood biomarkers | |
| Biopsy assessment | After a biopsy a small piece of tissue is examined under a microscope, looking at skin biomarkers or LEKTI | |
| Microbiological assessment | Looking which bacteria, virusses and fungi grow on your skin or other organs, by wiping the skin with a swab | |
| Genetic assessment | Looking at the DNA of a person in the laboratory, SPINK5 mutation analysis | |
| Radiologic assessment | Examening a part of the body using X-ray or a CT scan | |
| Other non-invasive measurents of the skin | Non-painful and non-harmful measurements to better investigate the skin and it’s components, for example using laser or photography | |
| Urinalysis | Investigaging the urine of a person, for example looking at amino acids | |
| Fecal analysis | Investigating the poop of a person | |
| Eyes | Dry eyes | Having not enough tears to protect your eyes, leading to icthy, red, burning eyes |
| Impaired vision | When a person does not see well | |
| Eye abnormalities | Eyes that are not looking or functioning normal | |
| Ears | Ear plugging | When your ears become obstructed by fluid, ear wax, scales or other things |
| Impaired hearing | When a person does not hear well | |
| Ear discharge | Any fluid that comes out of the ear | |
| Nails | Nail abnormalities | Nails that are not looking or functioning normal |
| Teeth | Teeth abnormalities | Teeth that are not looking or functioning normal |
November 18
| 3.00 PM | Introduction
Care4Netherton is the project to improve the care for people with Netherton syndrome, by defining outcome measures to evaluate care and therapy and by optimizing the patientjourney
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| 3.15- 3.30 PM
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Outcomes and new input
Outcomes conference 2020: what to do with the outcomes? Karin Veldman and Dr. Jolien van der Geugten explain the importance of outcome . Professor Suzanne Pasmans gives an introduction into the methodology outcome measures.
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| 3.30 – 4.15 PM
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Discussiongroups: Separate zoom meetings for patients and professionals. Generate outcome measures. |
| 4.15 – 4.30 PM
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Presentation Professor Amy Paller : Relevant new development in Translational Research
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| 4.30 – 4.45 PM
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Presentation Professor Christine Bodemer ERN SKIN. Importance for Netherton Syndrom in Care, Education and Research.
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| 4.45 – 5.00 PM
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The patient journey
Presentation movie Saskia van Baarle: Saskia has a nine year old daughter with Netherton Syndrome. In this movie she talks about all the things her family is facing in life.
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| 5.00 – 5.15 PM
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Presentation patient journey Karin Veldman, together with Dr. Jolien van der Geugten
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| 5.15 – 5.45 PM
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What is your story?
Discussion patient journey Presentation first infographic by Tim Laukens |
| 5.45 – 6.00 PM
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Conclusion patient journey/Friday again on the agenda
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| 6.00 – 6.15 PM
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COVID research presentation: Immunologist doctor Virgil Dalm has done a lot of research in the past one and a half year. He is going to tell us more about the pandemic virus and the consequences for people with Netherton syndrome. |
| 6.15 – 7.00 PM | Questions for the Netherton Expertise team? Ask anything you want to know.
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| Evening | Have a nice evening. See you all tomorow. |
November 19
We start at 3.00 PM
| TIMELINE | SUBJECT |
| 3.15 – 3.45 PM
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Delphi round one: vote for you most important subsject concering Netherton care.
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| 4.00 – 4.30 PM
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Conclusions patient journey in stages: talk with us, tell your story, complet the inforgraphic.
Infographic by Tim Laukens |
| 4.30 – 4.45 PM
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Drs Anouk Nouwen and professor Suzanne Pasmans present results of systemetic therapy in Netherton Syndrome
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| 4.45 – 5.15 PM | Time to chat |
| 5.15 – 5.45 PM | Delphi Round Two: vote for your most important subjects in Netherton Care |
| 5.45 – 6.00 PM | Conclusion and final |