2019
DOI: 10.1111/bjd.17943
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Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa

Abstract: Summary Background Revertant mosaicism has been described previously in recessive dystrophic epidermolysis bullosa (RDEB), manifesting as regions of skin with normal mechanical and biological characteristics. Here we report the discovery of revertant dermal fibroblasts, unique in that all other documented cases of revertant mosaicism occur in epidermal keratinocytes. Objectives To determine the cause of revertant mosaicism found in a patient with RDEB from isolated epidermal keratinocytes and dermal fibroblast… Show more

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Cited by 26 publications
(18 citation statements)
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“…Even so, the level of collagen VII after QR-313 treatment would not be expected to reach that of unaffected heterozygous carriers. Nevertheless, reports indicate that a relatively modest increase in functional collagen VII has significant clinical benefit (Fritsch et al 2008;Kern et al 2009;Schwieger-Briel et al 2015;Twaroski et al 2019).…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Even so, the level of collagen VII after QR-313 treatment would not be expected to reach that of unaffected heterozygous carriers. Nevertheless, reports indicate that a relatively modest increase in functional collagen VII has significant clinical benefit (Fritsch et al 2008;Kern et al 2009;Schwieger-Briel et al 2015;Twaroski et al 2019).…”
Section: Discussionmentioning
confidence: 99%
“…In addition, the critical concentration of collagen VII needed to nucleate anchoring fibril formation may not have been reached. It has to be emphasized though that collagen VII may still support epidermal-to-dermal cohesion without assembling into well-formed anchoring fibrils (Bornert et al 2016;Schwieger-Briel et al 2015;Twaroski et al 2019).…”
Section: J O U R N a L P R E -P R O O Fmentioning
confidence: 99%
“…The mechanisms of the mutation reversion are multiple, including mitotic recombinations, back mutations and second site mutations [48][49][50]. Revertant mosaicism in patients with RDEB has been primarily documented in keratinocytes, but evidence of revertant mosaic fibroblasts has also recently been reported [51]. Attempts to establish long-term cultures of keratinocytes from areas of skin with revertant mosaicism have been mostly unsuccessful, primarily due to depletion of stem cells in the affected skin.…”
Section: Natural Gene Therapymentioning
confidence: 99%
“…In the case of EB, iPSCs can also be generated from skin areas manifesting revertant mosaicism, a form of natural gene therapy, where the mutations have spontaneously reversed manifesting as patches of normal-appearing skin. It should be noted that revertant mosaicism in skin diseases has been primarily documented in keratinocytes, but revertant mosaic fibroblasts have also been identified in the skin of patients with RDEB (Twaroski et al, 2019).…”
Section: Preclinical Therapy Developmentmentioning
confidence: 99%