Netherton Syndrome is a very rare condition. In the past and even now it is misdiagnosed regularly, because of lack of experience and knowledge in the medical world. In the past, children with the syndrome often were diagnosed with other diseases like Leinder Syndrome, Zinc deficiency or erythrodermisch eczema (scaling and red skin).
The diagnosis of NS is based on the clinical appearance in newborns. In Holland, recently, there is a protocol drawn up on how to take care of a baby with a red skin. In addition the ratio of salts in the body of the baby is being monitored, because there may be faster signs of dehydration. IgE, an index for allergy, is also included in the study.
Hair growth abnormalities are visible under a normal microscope, but the growth abnormality with the typical swelling in certain parts of the hair is not always already present at birth. It is therefore important to investigate hair of different parts of the head, and to repeat the search in the first months of the infant’s life regularly.
The diagnosis can be confirmed by the absence of the protein LEKTI in a skin biopsy, or by genetic research. If a defect is found in the gene set SPINK5 prenatal diagnostics is possible.