Dermatological Manifestations of Wilson’s Disease: Two Cases

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 which may lead to diagnostic difficulties. We report here two cases who were diagnosed as Wilson's disease with prominent skin lesions over both lower extremities. These cases are reported here as it is rare and to highlight the fact that early recognition of the skin lesions may play a role in the diagnosis of Wilson's disease. The need to highlight the importance of skin lesion as a pointer to the early diagnosis of Wilson's disease because specific treatment can prevent further liver injury and neurological complications in most cases.

Generalized Hyperpigmentation - An Unusual Feature in Neurologic Wilson Disease: Report of Two Cases

“…Gurubacharya et al reported a case of Wilson disease in a 9-year-old child with generalized hyperpigmen-tation with liver disease. 6 Madhumita et al also reported another case, a 9 year old male child of Wilson disease with neurological manifestation preceded with generalized hyperpigmentation. 7 Steiner et al reported a case of a 16-year-old adolescent, presented with signs of hypersplenism due to cirrhosis, neurological disturbances and with hyperpigmentation in lower legs.…”

“…In addition, there may be gray-brown hyperpigmentation, which develops mostly on the lower extremities. 6,10 A vague greenish discoloration of the skin on the face, neck and genitalia has also been described. 10 Both of our patients presented with gradual hyperpigmentation of the whole body & neuropsychiatric manifestation starting almost at the same time.…”

“…8 Previously some cases were reported from Bangladesh where patients presented with features of chronic liver disease along with hyperpigmentation. 6,9 The most striking finding in WD is the blue lunulae of the nails and it was found in 10% of patients. In addition, there may be gray-brown hyperpigmentation, which develops mostly on the lower extremities.…”