From the Guidelines
Yes, skin rashes can occur with Wilson's disease. Wilson's disease is a genetic disorder that causes excessive copper accumulation in the body, primarily affecting the liver and brain. Skin manifestations include a bluish discoloration at the base of the fingernails called lunulae ceruleae, and a characteristic butterfly-shaped rash on the face resembling lupus. Some patients may develop itchy skin lesions, dermatitis, or other rashes due to copper deposition in the skin or as a result of liver dysfunction. These skin symptoms typically appear alongside other manifestations of Wilson's disease such as liver problems, neurological symptoms, or psychiatric disturbances.
Key Points
- Early diagnosis and treatment with copper-chelating medications like penicillamine, trientine, or zinc acetate can help manage copper levels and prevent or improve skin manifestations.
- If you notice unusual skin changes along with other symptoms like yellowing of the skin (jaundice), tremors, or coordination problems, it's essential to seek medical evaluation promptly, as early treatment of Wilson's disease can prevent serious complications.
- The most recent and highest quality study 1 provides guidelines for the diagnosis and treatment of Wilson's disease, emphasizing the importance of early recognition and management of the disease to prevent long-term complications.
- The study also highlights the significance of measuring hepatic parenchymal copper concentration as the most reliable method for diagnosing Wilson's disease, with a concentration >4 µmol/g dry weight considered as the best biochemical evidence for the disease 1.
From the Research
Skin Rash in Wilson's Disease
- Wilson's disease is an autosomal recessive disorder related to copper metabolism, and its clinical symptoms are due to copper deposition in various tissues, including the liver, brain, kidney, cornea, and others 2.
- There are several studies that report dermatological signs in Wilson's disease, including skin rash 3, 4.
- A study published in the International Journal of Immunopathology and Pharmacology reported a case of Wilson's disease with penicillamine-related lichenoid dermatitis 3.
- Another study published in Pediatrics International found that 70.3% of children with Wilson's disease had at least one dermatological finding, with the most prevalent diagnosis being xerosis (45.7%) 4.
- The presence of dermatological findings in Wilson's disease was not related to drug usage, severity of the disease, or malnutrition, but the frequency of skin findings alone was high in relatively newly diagnosed patients (<2 years) 4.
- Generalized hyperpigmentation of the skin has also been reported as an unusual association with Wilson's disease 5.