UFFI United for Fighting Ichthyosis, was born in 2018 in Italy thanks to the devoted interest of two parents and a brilliant team of dermatologists, researchers and experts.
Together we hope to win the fight on the rare disease known as Lamellar Ichthyosis TGM1-deficient .
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WHAT IS LAMELLAR ICHTHYOSIS TGM1-DEFICIENT?
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Congenital ichthyosis is a severe genetic skin disease (also called fish-like scaling disease)
The term is nowadays used for a large group of disorders of cornification.
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Congenital implies that the disease is already present at birth, but sometimes only manifests itself later in life.
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Lamellar ichthyosis TGM1-deficient is regarded as homeostatic response to barrier defect: patients can’t produce an enzyme that works like a skin glue (TGM1) which is vital in creating the skin barrier.
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Congenital types of ichthyosis are very severe and rare diseases affecting between 1 to 2 people per 100.000.
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WHAT ARE THE EFFECTS ON PATIENTS?
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Children were born with TGM1-deficient Lamellar Ichthyosis, a life threatening condition in which the skin sheds completely in the first two months of life.
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These babies have vulnerable skin barrier, and are prone to great water losses.
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People affected by ichtyosis live in permanent risk of dehydration and over-heating, which has a critical impact on the life of the younger patients, as it limits their outdoor activities.
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Commonly patients develop ectropion an impairing eye function (due to the extreme dryness, the outer skin of the eyelid doesn’t shut, and so the skin turns inside out).
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The patients constantly scratch because of a permanent and severe itching.
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Due to an alterated physical appearence (the skin presents darker scales), it takes a great psychological strength and enormous self-confidence to live with the disease as many children and adults experience stigmatization.
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