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 .
WHAT IS LAMELLAR ICHTHYOSIS TGM1-DEFICIENT?
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.
Congenital implies that the disease is already present at birth, but sometimes only manifests itself later in life.
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.
Congenital types of ichthyosis are very severe and rare diseases affecting between 1 to 2 people per 100.000.
WHAT ARE THE EFFECTS ON PATIENTS?
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.
These babies have vulnerable skin barrier, and are prone to great water losses.
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.
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).
The patients constantly scratch because of a permanent and severe itching.
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.