Background: Wilson's disease is an autosomal recessive disorder of copper homeostasis with predominantly hepatic and neuropsychiatric involvement. Anetoderma is a rare benign condition with focal damage of dermal elastic tissue. Previous reports described this skin disorder in association with prolonged D-Penicillamine therapy.
Case presentation: A 26-year-old male was referred for evaluation of asymptomatic elevation of aminotransferase levels. Investigations showed negative markers for chronic viral and autoimmune hepatitis, low ceruloplasmin level, and increased copper urinary excretion. Liver biopsy revealed chronic hepatitis with moderate activity and severe bridging fibrosis. Mutation analysis found a compound heterozygote genotype and supported a diagnosis of Wilson's disease. At the time of the primary physical exam, skin lesions were also observed, consisting of numerous white to pale papules less than 7-8 mm in diameter with central protrusion located at the upper part of the body. Primary anetoderma was established based on presentation and skin biopsy findings. Therapy with D-Penicillamine at a daily dose of 1500 mg was started, and, during 12-month follow-up, aminotransferase decreased to normal and skin lesions remained unchanged.
Conclusion: In our opinion the case is a first reported association between Wilson's disease and primary anetoderma. The possible mechanism behind this relationship is discussed.