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Over Netherton, Ichthyosis en de stichting

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Lamellar Ichthyosis

Lamellar Ichthyosis is a genetic skin condition, caused by a variety of faulty genes.  In most cases the TGM-1 gene shows an abnormality. The balance in the epidermis is disrupted because of a defect in the production of transglutaminase (a substance needed for the epidermis). This causes large, dark ‘scales’ all over the body, which have a ‘plate-like’ or ‘fish-scale’ appearance. The condition is Autosomal Recessive Congenital, which means two healthy parents can be carrier of the faulty gene and there is a 25% change at every pregnancy the baby is born with the condition.

For the first few weeks following birth, babies with Lamellar Ichthyosis have a ‘collodion membrane’, a clear but tight film that covers the babies’ skin. Because the skin is so tight sometimes eyelids and lips can be turned outwards. After a few weeks the film dries and sheds. Hereafter the skin will be covered with large dark scales. There is no redness involved. The whole body is covered with brown scales and most of the time the scalp and face too. Abnormalities in nails and hair are common. The skin cannot function as a protective barrier so infections occur.

It is very important to take good care of the skin by applying creams with urea to make the epidermis thinner. Soap dries the skin out. Eye drops can be used for eye problems.

There are tree types of Lamellar. Two types are ‘Autosomal Congenital’. The third type is very rare and is inherited as ‘Autosomal Dominant’. As mentioned earlier, most common is the type missing the enzyme transglutaminase. The cause of the two other types is unknown.