title: Wilson's disease in association with anetoderma.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Internal Diseases, Clinic of Gastroenterology, University Hospital "St.Marina", 1 Hristo Smirnenski Str., Varna, 9010, Bulgaria, irinaiivanova@abv.bg.
authors.forename: Irina Ivanova
authors.initials: II
authors.lastname: Ivanova
authors.forename: Iskren Andreev
authors.initials: IA
authors.lastname: Kotzev
authors.forename: Maria Vassileva
authors.initials: MV
authors.lastname: Atanassova
authors.forename: Diana Todorova
authors.initials: DT
authors.lastname: Gancheva
authors.forename: Stoyan Ivanov
authors.initials: SI
authors.lastname: Pavlov
authors.forename: Ivan Jordanov
authors.initials: IJ
authors.lastname: Krasnaliev
authors.forename: Dimitrina Hristova
authors.initials: DH
authors.lastname: Konstantinova
mesh_terms: D000328:Adult; D057088:Anetoderma / Q000150:complications* / Q000473:pathology; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000473:pathology; D006801:Humans; D008297:Male