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ORPHA:634Disease
Also called Bamboo hair syndrome · Comèl-Netherton syndrome · NS
What it is
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
20- Abnormal hairshaft morphology
- Atopic dermatitis
- Brittle hair
- Congenital nonbullous ichthyosiform erythroderma
- Eczematoid dermatitis
- Erythema
- Fine hair
- Food allergy
- Hypergranulosis
- Hyperkeratosis
- Immunologic hypersensitivity
- Increased circulating IgE concentration
- Irregular hyperpigmentation
- Pruritus
- Recurrent infections
- Recurrent upper respiratory tract infections
- Skin rash
- Sparse eyebrow
- Sparse scalp hair
- Trichorrhexis invaginataPathognomonic sign
Common30–79%
9These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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