Is a skin rash associated with Wilson's disease (hepatolenticular degeneration)?

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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.

Dermatological Findings

  • The dermatological findings in Wilson's disease include: + Xerosis (45.7%) 4 + Lichenoid dermatitis 3 + Generalized hyperpigmentation 5 + Mucosal findings (13.5%) 4 + Nail findings (24.3%) 4

References

Guideline

easl clinical practice guidelines: wilson's disease.

Journal of Hepatology, 2012

Research

Treatment and management of Wilson's disease.

Pediatrics international : official journal of the Japan Pediatric Society, 1999

Research

Dermatological signs in Wilson's disease.

Pediatrics international : official journal of the Japan Pediatric Society, 2009

Research

Generalized hyperpigmentation in Wilson's disease: An unusual association.

Journal of neurosciences in rural practice, 2013

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.