Wilson's disease is a genetic disorder, resulting from an anomaly present on the ATP7B gene located on chromosome 13, causing a progressive accumulation of copper in various organs such as the liver, nervous system and cornea, leading to various hepatic and neurological disorders and a systemic evolution.
Currently, the first-line treatment for this disease is D-Penicillamine, which acts by chelation and promotes copper excretion through the urine. Unfortunately, this treatment also has significant side-effects, particularly on the skin. However, the pathogenesis of elastopathy in patients with Wilson's disease has yet to be fully characterized, and needs to be better understood in order to adapt the therapeutic strategy.
A silicon mold will be made on Wilson's disease patients, enabling the skin micro-relief to be shaped, and analyzed by confocal laser in comparison with the skin of healthy volunteers.
Patient over 12 years old
Patient with Wilson's disease confirmed by genetic analysis
Patient followed up in the Wilson's Disease Reference Center for his care
Patient treated with D-Penicillamine
Patient not taking a treatment (at investigator's discretion) that may modify skin elasticity
Patient with pathological lesion(s) on forearm or cheek
Patient with a potentially active/rejuvenative forearm or cheek treatment
Patient having applied cream and/or make-up to the areas to be molded (forearm and cheek)