Definition:
Epidermolytic hyperkeratosis is also called bullous congenital ichthyosiform erythroderma. This condition is a relatively rare autosomal ichthyosis which is dominant. It was first described in 1902 by Brocq as bullous a ichthyotic erythroderma to distinguish it from the congenital ichthyotic erythroderma. The defect which causes the condition is found to be in the genes for keratin 1 and 10.
Diagnosis:
Diagnosis for Epidermolytic hyperkeratosis includes taking down clinical symptoms or presentation and medical history, biopsies can also be diagnostic in the case of de novo cases. Keratin studies can also be performed. Prenatal diagnosis can be done through analysis of the fetal skin biopsies, chorionic villus sampling, and amniotic cells.
Treatment:
Treatment for Epidermolytic hyperkeratosis includes administration of oral retinoids which have been proven to be effective like acitretin, isotretinoin, and etretinate. Gene therapies are also considered the only true therapy for the sufferers.
Symptoms and Signs:
In some cases patients manifests symptoms like scaling and skin blisters on the solesof the feet and palms. However, not all manifest such symptoms. Scaling is usually seen on various parts of the body which are often concentrated near or around the joints area. Babies affected with this disease are called "enfant brûlée" which is French terms for "burned child", because often times they look red and often have a very fragile top layer of the skin which very easily forms blisters and also wounds which can be caused by diapers, or even just by touching the baby's skin.
Causes:
The cause of this condition is traced from defects in genes for keratin 1 and 10. Keratin 1 defects are often associated with PS variants while keratin 10 defects are associated with NPS variants.
:
epidermolytichyperkeratosis
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