ImmunoDeficiency Resource (IDR)

The disease it is characterized by congenital ichthyosis with defective cornification, a specific hair shaft defect known as trichorrexis invaginata or "bamboo hair", atopic dermatitis, and hayfever. Hair is dry and brittle, alopecia is variable, eyelashes and brows may be sparse or lacking. High post-natal mortality is due to failure to thrive, infections and hypernatraemic dehydration. Some of the patients can have greatly elevated IgE levels with atopic manifestations. The disorder may be confused with atopic dermatitis but does not respond to topical corticosteroid treatment. A distinctive feature occurred only in Netherton syndrome: premature secretion of lamellar body contents. Lamellar body-derived extracellular lamellae and stratum corneum lipid membranes were separated extensively by foci of electron-dense material. Transformation of the lamellar body-derived lamellae into mature lamellar membrane structures was disturbed in the Netherton syndrome. These ultrastructural features could permit the early diagnosis of NS before the appearance of the hair shaft abnormality. These abnormalities could explain the impaired permeability barrier in NS, and account for hypernatremia and dehydration in infants with NS.