Elejalde Syndrome & Skin Pigmentation

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Elejalde syndrome is also known as neuroectodermal melanolysosomal disease.

What are the signs of Elejalde syndrome?

The main signs of someone with Elejalde syndrome are silvery hair and central nervous system dysfunction. A further feature of this disorder is that after exposure to the sun the skin darkens severely.

There are also other features of Elejalde syndrome unrelated to the skin such as neurological problems including seizures and mental retardation, as well as visual problems.

What is the cause of Elejalde syndrome skin pigmentation?

Elejalde is genetic disease and is therefore inherited. In the hair of people with Elejalde syndrome, there are unusually large and unevenly distributed amount of melanin. It is thought that this is caused by a problem in the gene which is responsible for melanin formation.

Who gets Elejalde syndrome?

Elejalde syndrome is a rare disease, with Mexico having the highest amount of people suffering from it. In the United States only 20 cases of Elejalde syndrome have been reported.

Elejalde syndrome affects all races and both males and females. It usually develops during childhood, between the ages of 1 month to 11 years old.

Is Elejalde syndrome dangerous?

Usually people who have Elejalde syndrome die in childhood from neurological causes. The oldest living person with Elejalde syndrome was a 12 year old boy.

What is the treatment for Elejalde syndrome?

Steroids, anticonvulsants and antipyretics have previously been used to treat people with Elejalde syndrome, but these have all been unsuccessful. There is currently no effective treatment.

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