Living with Netherton syndrome
A rare inherited condition that affects the skin, hair, and immune system, starting in newborns.
Understanding Netherton syndrome
Newborns have red, scaly skin that may leak fluid. Some are born with a tight, clear covering called a collodion membrane. Without normal skin protection, they are at risk of dehydration and skin infections. Babies may fail to grow and gain weight as expected. Health usually improves in older children and adults, though they often remain underweight and short. Itching is common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Red, scaly skin from birth
- Hair that is fine, sparse, or breaks easily
- Eczema and itching
- Asthma and allergies
- Recurrent infections
- Trouble absorbing food (malabsorption)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SPINK5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types, Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Jeffrey Modell Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the SPINK5 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: axial osteosclerosis with bamboo hair; bamboo hair syndrome; comel-netherton syndrome; comèl-netherton syndrome; erythroderma, ichthyosiform, with hypotrichosis and hyper-ige; ichthyosis, netherton syndrome
Patient organizations
- Jeffrey Modell FoundationNetherton syndrome · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Netherton syndrome.
Explore research for Netherton syndrome
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