3. Type Number of subtypes Inheritance of subtypes Key genes affected
EBS ~ 12 subtypes dominant or recessive Keratins 5, 14, Plectin
JEB ~ 6 subtypes recessive
Collagen XVII, Integrin,
Laminin
DEB ~ 13 subtypes dominant or recessive Collagen VII
4. •Recessive -> ¼ chance of EB
•Dominant -> ½ chance of EB
•Incidence -> 1 out of 50,000 births
5. Figure 1 10
Lack of proteins that
cement epidermis to
basement membrane
and basement
membrane to dermis
7. •Most severe form of EB
•Scarring involved
•Fusion of digits -> “mitten hands”
8. •Family history
•Blistering of skin as an infant
•Skin biopsy read with
transmission electron microscope
•Immuno-fluorescent antibody
testing
•Molecular testing for genes
involved (7)
9. •Pain
•Itching -> pain
•Disfigurement from
scarring
•Dressing changes painful
•Most severe forms - life
expectancy 1-30 years
•Financial burden – cost
of dressings
•Risk of skin cancer high
11. •Risk of cancer 90%
•1/3 of skin involved at any
one time
•Pain equal to third degree
burn
12. Study at Mayo Clinic (2007-2009)
Risk of chemo therapy and post implantation immuno
suppression
Reserved for worst cases of EB
13. •Culture of epidermal stem cells
•Infected cells with genetically
modified virus that had normal
collagen 7
•Sheets of epidermal cells
grafted over wounds
14. Patches of skin in DEB patient were normal
Converted cells from normal skin to stem cells -> differentiated to
epidermal cells that produced collagen 7
Normal skin used to cover wounds
15. •Umbilical cord blood
platelet gel
•Amniotic membrane
grafted to wounds
•Both worked, but did not
lead to formation of
collagen 7
•Temporary fix
16. •FCX-007 : genetically
modified fibroblasts
•Use of viral vector to
insert into patient
•Collagen gene
expressed FCX-007
cells
•Now in phase 1 & 2
clinical trials
18. The future
•Genetic counseling
•Preimplantation genetics
•Continued trials with stem
cells and gene therapy
•Reduction of number of
patients with RDEB and
availability of better
treatments
19. DEBRA research facility and provides information to
families
Research on EB available at NIH Clinical Research
Trials
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