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Netherton syndrome
What are the symptoms?
At birth most infants with Netherton syndrome look "scalded". The skin is "leaky" causing infants to loose heat, water and proteins - all of which are necessary for normal growth and development. Babies are slow to gain weight, especially in the first year of life. The defective skin makes the babies more at risk of infection. In some babies, infection may be life-threatening. Most suffer from a severe failure to thrive in the first year. For the most severely affected infants, the prognosis of Netherton syndrome is poor.
Later in childhood some develop a distinctive circular scaling on the skin known as ichthyosis linearis circumflexa (see entry, Ichthyosis). The skin condition tends to go through bouts of flaring and may be itchy, sensitive or raw and often thickened at the joints. Individuals may become distressed if the skin, especially the face, is constantly red and peeling. Between episodes, the skin may appear normal. In most children, Netherton syndrome improves gradually over time, although the basic problem persists. There is no specific treatment as yet available. The main issue is the skin barrier that can be improved by the regular daily application of an ointment based moisturiser.
In Netherton syndrome, the hair is fragile and spiky, so-called "bamboo" hair, which affects the scalp, eyelashes, eyebrows and body hair. A diagnosis may be confirmed by the microscopic examination of the characteristic "bamboo" swellings of hair. A diagnosis after birth may be delayed, as the hair may be sparse and not obviously characteristic of the condition. A recent development has been the successful use of an antibody test on a skin biopsy demonstrating the absence of LEKTI.
Individuals with Netherton syndrome have a higher risk of allergies and anaphylaxis. Some individuals are allergic to foods such as fish and nuts, or are prone to hay fever, asthma and eczematous-like rashes. Children with Netherton syndrome have high levels of IgE (allergy antibody) in their blood and suffer attacks of angioedema (allergic skin disease).
Individuals with Netherton syndrome are usually shorter than average and may have difficulty gaining weight. Gastrointestinal problems also occur often as diarrhoea, especially in early infancy.
Background
| What are the causes? 
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