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Molecular Quantification of Human β-Glucuronidase Levels in a Patient with Vohwinkel’s Syndrome

Thomas J. Hughes Submitted during fourth year, Ohio College of Podiatric Medicine, Cleveland.

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Monica L. Hughes Submitted when Research Assistant, Youngstown State University, Youngstown, OH.

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Bryan D. Caldwell Associate Professor, Ohio College of Podiatric Medicine, Cleveland; Director of Primary Podiatric Residency, Cleveland Clinic Foundation, Cleveland, OH. Mailing address: 10515 Carnegie Ave, Cleveland, OH 44106.

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The skin must undergo the process of keratinization in order to perform its functions. During the process of differentiation, certain genes are activated while others are repressed, leading to changes in structural proteins and enzymes and in the synthesis of various lipids. An error in any of these steps can ultimately impair the process of keratinization. Vohwinkel’s syndrome is the direct result of a defect in keratinization. Patients who have this epidermolytic palmoplantar keratoderma present clinically with hyperkeratosis of the stratum corneum. Hyperkeratosis has been linked to an increase in β-glucuronidase levels. The authors studied the absolute concentration of human β-glucuronidase in a patient with Vohwinkel’s syndrome as determined through a double-antibody sandwich enzyme-linked immunosorbent assay and a Western blot assay of the blood, urine, and skin of the patient. (J Am Podiatr Med Assoc 91(3): 114-120, 2001)