Defects in copper metabolism: The cutaneous manifestations of MEDNIK syndrome

Introduction: MEDNIK is a multisystem disorder characterized by Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis and Keratoderma and is a result of a defect in copper metabolism. Few cases in the literature review MEDNIK syndrome, but it typically presents with biochemical signs of both Menkes and Wilson ’s disease. The clinical and histologic features of cutaneous manifestations of MEDNIK syndrome, the importance of copper metabolism in cutaneous function, and the implication of aberrant processing of copper in skin will be discussed.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Source Type: research