Clinical Study
Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study
| Number | Age (years) | Gender | Type of EB | Collagen VII staining (IFM) | Mutation cDNA | Mutation protein | Skin involvement |
| 1 | 6 | M | RDEB (SG) | Negative | c.3141delG homozygous | p.Cys1048 61 | Generalized blistering, scarring, mutilations | 2 | 10 | F | RDEB (SG) | Not done | c.4590delA homozygous | p.Gly1531 179 | Generalized blistering, scarring, mutilations | 3 | 16 | F | RDEB (SG) | Not done | c.4590delA homozygous | p.Gly1531 179 | Generalized blistering, scarring, mutilations | 4 | 9 | M | RDEB (SG) | Not done | c.1934delC homozygous | p.Pro645 45 | Generalized blistering, scarring, ++pseudo synechiae | 5 | 36 | M | RDEB (SG) | Negative | 425A>G homozygous | p.? Altered splicing | Generalized blistering, scarring, mutilations | 6 | 47 | F | RDEB (GI) | Reduced | c.3832-2A>G; 4039G>T | p.?; G1347W | Generalized blistering, scarring, mild proximal pseudo synechiae | 7 | 21 | M | DDEB (loc.) | Normal | c.7868G>T | p.Gly2623Val | Blistering on lower legs, nail dystrophy | 8 | 28 | M | RDEB (SG) | Not done | Not done | Not done | Generalized blistering, scarring, mutilations | 9 | 20 | M | RDEB (SG) | Not done | c.2212_2215dup; 7621C>T | p.Glu739 GlyfsX2 | Generalized blistering, scarring, mutilations | 10 | 17 | M | RDEB (SG) | Negative | c.[425A>G]; 1837C>T | p.?; Arg613X | Generalized 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.
|