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Histochemical and Electron Microscopic Studies on the Skin Disease Keratoderma Hereditaria Mutilans (Vohwinkel's Syndrome)

Ginde, Sadhana Y.
http://rave.ohiolink.edu/etdc/view?acc_num=ysu999611609

Abstract Details

1999, Master of Science in Biological Sciences, Youngstown State University, Department of Biological Sciences and Chemistry.
Keratoderma Hereditaria Mutilans (KHM) or Vohwinkel's Syndrome is a rare autosomal dominant skin disease characterized primarily by diffuse hyperkeratosis of both the palmar and the plantar regions of the skin. Other prominent features include an increase in the levels of B-glucuronidase enzyme in both serum and urine. It has now been established that Vohwinkel's Syndrome is a direct result of a defect found in the gene encoding a structural protein located within the cornified cellular envelope of the skin. This protein is known as loricrin. The exact chromosomal location of the specific loricrin gene was found to be in the lq21 position, mapped within the epidermal differentiation complex (EDC). It is believed that a frameshift mutation within the loricrin gene causes a significant decrease in the flexibility of the cornified cell envelope layer by impairing and disrupting its ability to properly crosslink loricrin thereby contributing to an impairment in barrier function causing patients with Vohwinkel's Syndrome to retain water within the keratinocytes.
Paul Peterson (Advisor)
135 p.
Biology, General
Vohwinkel's Syndrome

Recommended Citations

Citations

  • Ginde, S. Y. (1999). Histochemical and Electron Microscopic Studies on the Skin Disease Keratoderma Hereditaria Mutilans (Vohwinkel's Syndrome) [Master's thesis, Youngstown State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ysu999611609

    APA Style (7th edition)

  • Ginde, Sadhana. Histochemical and Electron Microscopic Studies on the Skin Disease Keratoderma Hereditaria Mutilans (Vohwinkel's Syndrome). 1999. Youngstown State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ysu999611609.

    MLA Style (8th edition)

  • Ginde, Sadhana. "Histochemical and Electron Microscopic Studies on the Skin Disease Keratoderma Hereditaria Mutilans (Vohwinkel's Syndrome)." Master's thesis, Youngstown State University, 1999. http://rave.ohiolink.edu/etdc/view?acc_num=ysu999611609

    Chicago Manual of Style (17th edition)

ysu999611609
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© 1999, all rights reserved.
This open access ETD is published by Youngstown State University and OhioLINK.