Clinical Study

Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study

Table 1

Patient data.

NumberAge (years)GenderType of EBCollagen VII staining
(IFM)
Mutation
cDNA
Mutation proteinSkin involvement

16MRDEB
(SG)
Negativec.3141delG
homozygous
p.Cys1048
61
Generalized blistering, scarring, mutilations
210FRDEB
(SG)
Not donec.4590delA
homozygous
p.Gly1531
179
Generalized blistering, scarring, mutilations
316FRDEB
(SG)
Not donec.4590delA
homozygous
p.Gly1531
179
Generalized blistering, scarring, mutilations
49MRDEB
(SG)
Not donec.1934delC
homozygous
p.Pro645
45
Generalized blistering, scarring, ++pseudo synechiae
536MRDEB
(SG)
Negative425A>G
homozygous
p.?
Altered splicing
Generalized blistering, scarring, mutilations
647FRDEB
(GI)
Reducedc.3832-2A>G;
4039G>T
p.?;
G1347W
Generalized blistering, scarring, mild proximal pseudo synechiae
721MDDEB
(loc.)
Normalc.7868G>Tp.Gly2623ValBlistering on lower legs, nail dystrophy
828MRDEB
(SG)
Not doneNot doneNot doneGeneralized blistering, scarring, mutilations
920MRDEB
(SG)
Not donec.2212_2215dup;
7621C>T
p.Glu739
GlyfsX2
Generalized blistering, scarring, mutilations
1017MRDEB
(SG)
Negativec.[425A>G];
1837C>T
p.?; Arg613XGeneralized blistering, scarring, mutilations

EB: epidermolysis bullosa; DDEB: dominant dystrophic EB; RDEB: recessive dystrophic EB; SG: severe generalized; GI: generalized intermediate; loc.: localized; IFM: immunofluorescence mapping.