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Category: Volume 11 Issue 06 June 2023
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Title: A Diagnostic Dilemma: Wilson’s Disease with Cutaneous Manifestations

Authors: Samar Pratim Nayak, Swati Dash, Bijayalaxmi Malick, Sunil Kumar Agarwala

 DOI: https://dx.doi.org/10.18535/jmscr/v11i6.15

Abstract

Wilson’s disease, an autosomal recessive disorder of copper metabolism, most commonly presents either with hepatic or neurological features. sometimes it may have certain atypical features like cutaneous and renal manifestations which may lead to diagnostic difficulties. we report here a case of Wilson disease who presented as Xerosis and generalised hyperpigmentation of body along with nephrotic range proteinuria. This case report is rare and highlights the fact that early recognition of skin lesions may play a role in diagnosis of Wilson’s disease and specific treatment can prevent further liver injury and neurological complications in most cases.

Keywords: xerosis, hyperpigmentation, Wilson’s disease, proteinuria.

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Corresponding Author

Samar Pratim Nayak

Department of Pediatrics, SVPPGIP, SCB Medical College, Cuttack