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Netherton syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Netherton syndrome

Netherton syndrome is a rare genetic disorder that impacts the skin, hair, and immune system, characterized by red, scaly skin, fragile hair, and a predisposition to allergies and eczema.

Overview

Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature.

After infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can fluctuate over time. The skin may continue to be red and scaly, especially during the first few years of life. Some affected individuals have intermittent redness or experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ring-like lesions. The triggers for the outbreaks are not known, but researchers suggest that stress or infections may be involved.

Itchiness is a common problem for affected individuals, and scratching can lead to frequent infections. Dead skin cells are shed at an abnormal rate and often accumulate in the ear canals, which can affect hearing if not removed regularly. The skin is abnormally absorbent of substances such as lotions and ointments, which can result in excessive blood levels of some topical medications. Because the ability of the skin to protect against heat and cold is impaired, affected individuals may have difficulty regulating their body temperature.

People with Netherton syndrome have hair that is fragile and breaks easily. Some strands of hair vary in diameter, with thicker and thinner spots. This feature is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis invaginata. In addition to the hair on the scalp, the eyelashes and eyebrows may be affected. The hair abnormality in Netherton syndrome may not be noticed in infancy because babies often have sparse hair.

Most people with Netherton syndrome have immune system-related problems such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema.

Netherton syndrome is estimated to affect 1 in 200,000 newborns.

Causes & Risk Factors

Netherton syndrome is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is found in the skin and in the thymus, which is a gland located behind the breastbone that plays an important role in the immune system by producing white blood cells called lymphocytes. LEKT1 controls the activity of certain serine peptidases in the outer layer of skin (the epidermis), especially the tough outer surface known as the stratum corneum, which provides a sturdy barrier between the body and its environment. Serine peptidase enzymes are involved in normal skin shedding by helping to break the connections between cells of the stratum corneum. LEKT1 is also involved in normal hair growth, the development of lymphocytes in the thymus, and the control of peptidases that trigger immune system function.

Mutations in the SPINK5 gene result in a LEKT1 protein that is unable to control serine peptidase activity. The lack of LEKT1 function allows the serine peptidases to be abnormally active and break down too many proteins in the stratum corneum. As a result, too much skin shedding takes place, and the stratum corneum is too thin and breaks down easily, resulting in the skin abnormalities that occur in Netherton syndrome. Loss of LEKT1 function also results in abnormal hair growth and immune dysfunction that leads to allergies, asthma, and eczema.

Learn more about the gene associated with Netherton syndrome

  • SPINK5

Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Other Names

  • Bamboo hair syndrome
  • Comel-Netherton syndrome
  • Ichthyosiform erythroderma with hypotrichosis and hyper-IgE
  • Ichthyosis linearis circumflexa
  • ILC
  • NETH
  • Netherton disease
  • NS

Frequently Asked Questions

For newborns with Netherton syndrome, the most critical immediate concerns are dehydration, severe skin infections (sepsis), and failure to thrive. Care involves meticulous skin barrier support to prevent fluid loss and infection, often requiring specialized emollients and dressings. Close monitoring for signs of infection and ensuring adequate nutrition are paramount, sometimes necessitating intravenous fluids or specialized feeding to support growth.
Netherton syndrome often leads to immune system dysfunction, making individuals prone to severe allergies (atopy), asthma, and food sensitivities. It also increases susceptibility to recurrent skin infections due to the compromised skin barrier and systemic infections. Management involves working closely with allergists and immunologists, avoiding known allergens, and promptly treating any infections with appropriate antibiotics or antifungals.
Daily management of the skin involves frequent application of thick emollients or moisturizers, often multiple times a day, to help hydrate the skin and improve its barrier function. Regular, gentle bathing with mild cleansers, followed by immediate moisturizing, is also important. Avoiding harsh soaps, very hot water, and irritants can help reduce itchiness and inflammation. Antihistamines or topical corticosteroids may be prescribed by a doctor for severe itching or inflammation.
While specific triggers are not fully understood, stress and infections are suggested to worsen skin flare-ups. Environmental factors like extreme temperatures, low humidity, harsh chemicals, or irritants in clothing or skincare products can also exacerbate skin symptoms. Avoiding these potential triggers, maintaining a stable environment, and managing stress can be beneficial in reducing the frequency and severity of outbreaks.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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