Wilson Disease and Unusual Dermatological Manifestations: A Case Study Analysis: -----Case Study-----

Abstract

Wilson's disease, an autosomal recessive disorder, primarily affects copper metabolism due to mutations in the ATP7B gene, leading to abnormal copper accumulation in various organs, including the liver, brain, cornea, kidneys, and joints. Despite being initially characterized by neurological and hepatic symptoms, Wilson's disease can also present with dermatological manifestations, which are less commonly discussed but equally important for comprehensive patient care. We present the case of a 22-year-old male patient with Wilson's disease who presented with painful subcutaneous nodules dispersed across his body, along with other systemic symptoms. Laboratory investigations revealed abnormalities indicative of liver dysfunction, iron excess, and anemia. Histopathological examination of a nodular biopsy demonstrated inflammatory changes consistent with Wilson's disease. Treatment included conventional therapy for Wilson's disease, dietary modifications, and antibiotic treatment for skin lesions. This case underscores the significance of recognizing and addressing dermatological manifestations in Wilson's disease, which may aid in early diagnosis and tailored treatment approaches. Further research and awareness are warranted to better understand and manage dermatological findings associated with Wilson's disease.