Netherton Syndrome Fact Sheet

Netherton syndrome

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Netherton syndrome is a less common form of ichthyosis. In older children and adults the scaling may have a distinctive circular pattern (ichthyosis linearis circumflexa). But in infants and younger children, the skin is more commonly red and scaly all over, lacking the distinctive circular pattern. Hair shafts are fragile and break easily due to trichorrhexis invaginata, or “bamboo hair,” resulting in short sparse hair. Another characteristic of Netherton syndrome is a predisposition to allergies, asthma, and eczema. Adults and children with Netherton syndrome are also predisposed viral skin infections with herpes and human papilloma virus, in addition to bacterial skin and systemic infections.

Newborns with Netherton syndrome have reddened skin (erythroderma), and, less commonly, a thick shell-like covering of the skin (collodion membrane). Babies with Netherton syndrome may be born prematurely. Trouble gaining weight during infancy and childhood is common, and can be severe. Infants may also have recurrent skin infections and septicemia (infection in the blood). They may develop hypernatremia (elevated sodium levels in the blood) due to excessive loss of fluid from the skin surface. Because hairs may not be affected at birth, and then may be sparse in all babies during the first months of life, the characteristic hair defect that is diagnostic of Netherton syndrome may not be detected initially. Infants with Netherton syndrome may be misdiagnosed as having ARCI-CIE type (congenital ichthyosiform erythroderma), atopic dermatitis, or psoriasis. Atopic dermatitis (red, itchy patches of skin) may be present, and a cradle cap-like scale and redness may appear on the face, scalp and eyebrows.

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Autosomal recessive mutations in SPINK5 have been shown to cause Netherton syndrom. Individuals must inherit two mutant copies of SPINK5 in order to have the disease, with each parent contributing one mutated gene; the parents (“carriers”) show no evidence of Netherton syndrome. (For more information on the genetics of Netherton syndrome, request FIRST’s publication, Ichthyosis: The Genetics of Inheritance)

This gene encodes a protein that limits the activity of certain proteases (enzymes that digest proteins) in the skin protein. In Netherton syndrome increased protease action in the skin results in too few layers of the outer skin (stratum corneum), and reduced activity of antimicrobial peptides. Therefore agents that remove scale (keratolytics), such as the alpha-hydroxy acids (lactic acid, glycolic acid), salicylic acid and oral retinoids are not helpful in the management of this disorder, and may aggravate the symptoms. Current treatment options are limited to topical treatment with mild moisturizers containing petrolatum or lanolin and/or a skin barrier repair formula containing ceramides or cholesterol.Topical calcineurin inhibitors (pimecrolimus and tacrolimus) have been shown to be helpful for individuals with Netherton, must be used sparingly because they are absorbed easily though the abnormal stratum corneum, and widespread use can lead to dangerously high blood levels. Topical steroids are also readily absorbed, and should be used in low potency forms to limited areas of the body for short periods of time. Recently a few reports of treatment of Netherton syndrome with systemic immunomodulatory medications have been published. The potentially limited benefits of these medications must be weighed against the risks of systemic medications.
 
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