Netherton Syndrome
Who diagnosed it?
Netherton Syndrome was 1st given its name in 1958 by Earl W.Netherton, he described a 4-year old girl with scaly red and different hair, which he called bamboo hair, because of how it looked in the microscope. 9 years earlier, the Italian dermatologist Come described a condition in a young woman with a ring shape change in her skin, which he called itcthyosis Linearis circumflex. These 2 description were considered to be related.
What causes it?
Netherton Syndrome is caused by damage in a gene called SPINK5, located on the long arm of the chromosome 5 (5q). This gene controls the formation of a protein (LEKTI) which is in the skin and the thymus. LEKTI inhibits certain enzymes in the epidermis. Enzymes are responsible for breaking down the links between the horn of cells thus enabling a normal rejection if the skin cells. In the absenxe of the LEKTI is a rejection of the horn cells, resulting in flaking, red.skin, The skin can become very dry and sore, but also it will absorb any creams used on the skin very easily.
Help with Netherton's
There is still no treatment that cures the disease, but efforts are being made to find this cure at Great Ormond Street Hospital in the UK, and various hosptial in other counties including America.
The condition requires visits to the hospital to visit both the Dermatologist and the ear specialist as these are 2 areas that need constant checks. The 1st year of a child life is the most important. The need to be monitored very close as infection is very high so care using incubator are essential, Fluids and salt balance are monitored as the loss of fliud through the skin is rapid and can also cause diarrhea and vomiting. The skin needs to be cared for several times a day using various mxtures of papaffin and vaseline.
During the neonatal period it is very important to pay attention to less serious infection to the skin and other body parts, as they can quicky develop into life threatening ibfection because of the delicate nature of the skin.
The use of a dietitian is important in the 1st year of life, any allergies are a risk to the child so teachers, carers should always be kept informed of this.
Daily treatment of the skin is important. Showers or baths at least twice a day are recommended and lubrication is necessary. The Bath or showers will help soften the skin and it makes it easier to remove loose skin flakes by hand or with the use of a cloth. Regular care of the skin and hair is time consuming but in the long run will help the childs comfort.
Below is Jack Oldacres in his early days of his life.He needed constant care from doctors & nurses to stop life threatening infections
