Generalized hyperpigmentation in Wilson’s disease: An unusual association

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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

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Conflicts of interest

None declared

REFERENCES

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[1] Merle U, Schaefer M, Ferenci P, Stremmel W, . Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: A cohort study. Gut. 2007;56:115-20.
[Google Scholar]

[2] Narayanan P, Chetan G, Mahadevan S, . Wilson’s disease presenting as respiratory failure. Indian J Pediatr. 2006;73:99-100.
[Google Scholar]

[3] Pandit A, Bavdekar A, Bhave S, . Wilson’s disease. Indian J Pediatr. 2002;69:785-91.
[Google Scholar]

[4] Gurubacharya S. M., Gurubacharya R. L., . Atypical presentation of Wilson’s disease. J Nepal Paediatr Soc. 2008;28:66-7.
[Google Scholar]

[5] Steiner P, Frey P, Lupi G. A., Kistler H. J., . Familial Wilson’s disease: Copper indued hemolysis, hypersplenism andhyperpigmentation as the main symptoms. Schweiz Med Wochenschr. 1975;105:872-9.
[Google Scholar]

[6] Manolaki N, Nikolopoulou G, Daikos G. L., Panagiotakaki E, Tzetis M, Roma E, et al. . Wilson disease in children: Analysis of 57 cases. J Pediatr Gastroenterol Nutr. 2009;48:72-7.
[Google Scholar]

[7] Panagariya A, Sureka R. K., Sharma A. K., Dev A, Agarwal N, . Wilson’s disease: A study of 21 cases from North-West India. Ann Indian Acad Neurol. 2007;10:255-8.
[Google Scholar]

[8] Leu M. L., Strickland G. T., Wang C. C., Chen T. S., . Skin pigmentation in Wilson’s disease. JAMA. 1970;211:1542-3.
[Google Scholar]

[9] Bem R. S., Muzzillo D. A., Deguti M. M., Barbosa E. R., Werneck L. C., Teive H. A., . Wilson’s disease in southern Brazil: A 40-year follow-up study. Clinics (Sao Paulo). 2011;66:411-6.
[Google Scholar]

[10] Riyaz A, . Wilson’s disease.Pediatric Gastroenterology and Hepatology. In: editor Hyderabad, New Delhi: Paras Medical Publisher; 2008. p. p. 551-68.
[Google Scholar]