Translate this page into:
Generalized hyperpigmentation in Wilson’s disease: An unusual association
Dr. Madhumita Nandi 6/6, Naren Sarkar Road, Barisha, Kolkata, West Bengal India madhumitabanik@rediffmail.com
This article was originally published by Thieme Medical and Scientific Publishers Private Ltd. and was migrated to Scientific Scholar after the change of Publisher.
Abstract
ABSTRACT
Wilson’s disease, an autosomal recessive disorder of copper metabolism, most commonly presents either with hepatic or neurological features. But, it may sometimes have certain atypical presentations posing diagnostic difficulties. We report here a case of Wilson’s disease presenting with generalized hyperpigmentation of skin who also developed neurological manifestations subsequently. We aim to highlight the importance of keeping Wilson’s disease as one of the differentials in patients who present with hyperpigmentation and neurological symptoms compatible with copper deposits in the central nervous system and proceed for investigations accordingly.
Keywords
Copper toxicity
hyperpigmentation
Wilson’s disease
Conflicts of interest
None declared
REFERENCES
- Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: A cohort study. Gut. 2007;56:115-20.
- [Google Scholar]
- Wilson’s disease presenting as respiratory failure. Indian J Pediatr. 2006;73:99-100.
- [Google Scholar]
- Familial Wilson’s disease: Copper indued hemolysis, hypersplenism andhyperpigmentation as the main symptoms. Schweiz Med Wochenschr. 1975;105:872-9.
- [Google Scholar]
- Wilson disease in children: Analysis of 57 cases. J Pediatr Gastroenterol Nutr. 2009;48:72-7.
- [Google Scholar]
- Wilson’s disease: A study of 21 cases from North-West India. Ann Indian Acad Neurol. 2007;10:255-8.
- [Google Scholar]
- Wilson’s disease in southern Brazil: A 40-year follow-up study. Clinics (Sao Paulo). 2011;66:411-6.
- [Google Scholar]
- Wilson’s disease.Pediatric Gastroenterology and Hepatology. Hyderabad, New Delhi: Paras Medical Publisher; 2008. p. :p. 551-68. In: editor
- [Google Scholar]