Molecular quantification of human beta-glucuronidase levels in a patient with Vohwinkel's syndrome

The skin must undergo the process of keratinization in order to perform its functions. During the process of differentiation, certain genes are activa ted while others are repressed, leading to changes in structural proteins a nd enzymes and in the synthesis of various lipids. An error in any of these steps can ultimately impair the process of keratinization. Vohwinkel's syn drome is the direct result of a defect in keratinization. Patients who have this epidermolytic palmoplantar keratoderma present clinically with hyperk eratosis of the stratum corneum. Hyperkeratosis has been linked to an incre ase in beta -glucuronidase levels. The authors studied the absolute concent ration of human beta -glucuronidase in a patient with Vohwinkel's syndrome as determined through a double-antibody sandwich enzyme-linked immunosorben t assay and a Western blot assay of the blood, urine, and skin of the patie nt.