Neuropsychological and psychological functioning

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.


Neonatal Erythroderma

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.

This pubmed article describes the development of a diagnostic approach and the diagnostic appoach itself. It was written by Edwin Cuperus (and others) in cooperation with the European Reference Network Skin.

You can also download it as a PDF:

Acad Dermatol Venereol – 2022 – Cuperus – Proposal for a 6‐step‐approach for differential diagnosis of neonatal

Baby’s with Netherton Sydrome are mostly born with a red skin, or developing it shortly after birth.

Information for patients

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.

Outcomes, the first list

If you would like a pdf of the list, please use the hyperlink, so you can download and print te list:

first list outcomes


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

PROGRAM THINC 2021 IN Central European Time

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


3.15- 3.30 PM


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.


3.30 – 4.15 PM


Discussiongroups: Separate zoom meetings for patients and professionals. Generate outcome measures.
4.15 – 4.30 PM


Presentation Professor Amy Paller : Relevant new development in Translational Research


4.30 – 4.45 PM


Presentation Professor Christine Bodemer ERN SKIN. Importance for Netherton Syndrom in Care, Education and Research.


4.45 – 5.00 PM


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.


5.00 – 5.15 PM


Presentation patient journey Karin Veldman, together with Dr. Jolien van der Geugten


5.15 – 5.45 PM


What is your story?

Discussion patient journey

Presentation first infographic  by Tim Laukens

5.45 – 6.00 PM


Conclusion patient journey/Friday again on the agenda


6.00 – 6.15 PM


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.


Evening Have a nice evening. See you all tomorow.

November 19

We start at 3.00 PM


3.15 – 3.45 PM


Delphi round one: vote for you most important subsject concering Netherton care.


4.00 – 4.30 PM


Conclusions patient journey in stages: talk with us, tell your story, complet the inforgraphic.

 Infographic by Tim Laukens

4.30 – 4.45 PM


Drs Anouk Nouwen and professor Suzanne Pasmans present  results of systemetic therapy in Netherton Syndrome


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