Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis

E. Fuchs, P. Coulombe, J. Cheng, Y. M. Chan, E. Hutton, A. Syder, L. Degenstein, Q. C. Yu, A. Letai, R. Vassar

Research output: Contribution to journalArticlepeer-review

69 Scopus citations


Keratins are the major structural proteins of the epidermis. Analyzing keratin gene sequences, appreciating the switch in keratin gene expression that takes place as epidermal cells commit to terminally differentiate, and elucidating how keratins assemble into 10-nm filaments have provided the foundation that has led to the discoveries of the genetic bases of two major classes of human skin diseases. In this report, we review the cell biology and human genetics of these diseases, epidermolysis bullosa simplex and epidermolytic hyperkeratosis. Both of these diseases are epidermal disorders of keratin, typified by cell fragility as a consequence of defects in the mechanical strength of basal epidermolysis bullosa simplex or suprabasal epidermolytic hyperkeratosis cells.

Original languageEnglish (US)
Pages (from-to)S25-S30
JournalJournal of Investigative Dermatology
Issue number5 SUPPL.
StatePublished - 1994
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology


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