Pigmentation and melanocyte supply to the epidermis depend on type XVII collagen: Experimental Dermatology

Antoni Gostynski*, Anna M. G. Pasmooij, Marcela Del Rio, Gilles F. Diercks, Hendrikus Pas, Marcellinus Jonkman

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

6 Citations (Scopus)

Abstract

Genetic deficiency of type XVII collagen (C17), laminin-332 or type VII collagen causes epidermolysis bullosa (EB). Spontaneous correction of the deficiency, also known as revertant mosaicism, is caused by a second somatic mutation that restores protein expression resulting in clinically healthy (revertant) patches surrounded by fragile (mutant) skin. Interestingly, in some patients, patches of revertant skin show hyperpigmentation. To study the possible role of affected proteins in pigmentation and melanocyte distribution, we investigated clinical documentation and skin biopsy specimens of 13 revertant EB patients having correcting mutations in the COL17A1, LAMB3 or COL7A1 genes. Analysis revealed that lack of C17 led to decreased melanin intensity and melanocyte density in the epidermis when compared with the revertant patches. Reversions of LAMB3 and COL7A1 in keratinocytes did not influence clinical pigmentation or density of melanocytes. We conclude that in human skin, melanocyte supply to the epidermis depends on C17 expression in keratinocytes.
Original languageEnglish
Pages (from-to)130-132
Number of pages3
JournalExperimental dermatology
Volume23
Issue number2
Early online date29-Jan-2014
DOIs
Publication statusPublished - Feb-2014

Keywords

  • epidermolysis bullosa
  • melanocyte
  • melanocyte stem cell
  • pigmentation
  • revertant mosaicism
  • type XVII collagen
  • JUNCTIONAL EPIDERMOLYSIS-BULLOSA
  • NATURAL GENE-THERAPY
  • REVERTANT MOSAICISM
  • COL17A1 MUTATIONS
  • CELLS
  • VITILIGO
  • NICHE
  • IL-8

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