Wilson's Disease Treated With D-Penicillamine: Characterization of Skin Damage Secondary to Treatment by Measuring Skin Elasticity
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.
⁃ Diseased patients :
• 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 with no other known elastic tissue pathology
⁃ Healthy volunteers :
• Patient over 12 years old
• Patient followed up in the dermatology department of St Etienne University Hospital
• Patient matched on sex and age with a patient from the Wilson's disease group
• Patient with no elastic tissue pathology
⁃ All patients :
• Patient affiliated to a national social security
• Patient with written informed consent