What Is Netherton Syndrome?

Netherton syndrome is an unusual genetic condition caused by a problem with the SPINK5 gene. Patients who have this disease have skin and hair problems and can be at increased risk of serious infections. It is a recessive trait, and a patient must inherit both copies of the defective gene to develop Netherton syndrome. The severity of the disease can vary, depending on the encoding problems along this gene.

One of the first signs of Netherton syndrome is the development of ichthyosiform erythroderma, a condition in which the skin is red, scaly and irritated. This can show up in infancy and might initially look like a routine rash. It does not respond well to treatments for rashes, though, and the patient might need a heavy moisturizing regimen to protect the skin. The scaly skin also tends to exfoliate rapidly and can leave weeping sores and lesions. These are painful and create potential points of vulnerability to infection.

Patients who have this condition also have a disorder with their hair shafts that makes their hair dull, thin and brittle. Netherton syndrome is sometimes known as “bamboo hair” or trichorrhexis invaginata, references to the hair problems associated with it. In addition, the patient can be prone to allergies and might develop very severe allergic responses to environmental triggers such as foods or pollen. These allergies can lead to life-threatening anaphylactic shock.

This condition cannot be cured, but it can be managed. Caring for the skin is of primary concern, because the lesions associated with Netherton syndrome can be very dangerous. Skin care might involve soothing baths and moisturizing creams, protective garments and prescription skin creams to manage pain and inflammation. The doctor might also recommend gentle exfoliation to remove rough, scaly, horny skin and to keep the patient more comfortable.

If a patient develops signs of infection, prompt treatment is advised. These patients are less able to fight off infection and might rapidly become immunocompromised, which can expose them to even greater risks. It can help to work with a specialist who handles patients with this disease, if one is available in a patient's region. Netherton syndrome is rare, so it might be difficult to find a suitably trained doctor without traveling to a more densely populated area. Some patients also find it helpful to join support groups and organizations to get a chance to meet with other patients and to network with care providers who have an interest in this condition.