From: Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases
EB type | EB subtype | Involved genes and mutations | Consequences | Age of cSCC diagnosis | Metastases | Death related to (c)SCC | Relapse | Time to recurrence (months) | Comments | |
---|---|---|---|---|---|---|---|---|---|---|
EBS | EBS-DM |
KRT5 (n = 1) c.1431G > C 38 | p.Glu477Asp 38 | “mid-thirties" | no | NS | yes | “few months” | Verrucous leg carcinoma | |
EBS-AR |
KRT14 (n = 1) c.1174G > T 34 | p.Glu392Xaa 34 | 41 | no | NS | NS | NS | SCC of the tongue | ||
JEB | NH-JEB |
LAMB3
b (n = 5) c.628G > A + 1628G > A 5 c.29insC1628G > A 5 c.628G > A11903C > T 5 c.1903C > T + 1048A > C 27 c.29insC + 2500C > T 39 COL17A1 c (n = 2) c.3236delC + 3236delC 5 4003delTC 12a |
p.Glu210Lys + Glu210Lys 5
p.Leu11ProfsX43 + Glu210Lys 5 p.Glu210Lys + Arg635Xaa 5 p.Arg635X + Thr350Pro 27 p.Leu11ProfsX43 + Gln834Xaa 39 p.Ser1079CysfsX26 + Ser1079CysfsX65 NS 12 a |
48 61 28 70 32 42 58 |
no no yes no yes yes no |
no no yes no yes yes no |
no yes yes NA yes yes no |
NA 144 216 no 84 21 no |
Death with lung metastases5
Follow-up period not specified27 Death with lymph nodes and lung metastases39 Death with lymph nodes and skin metastases5 Follow-up period not specified12 | |
DEB | DDEB |
COL7A1
(n = 1) 40 | p.Gly2079Arg 40 | 38 | no | NA | NA | NA |
Lost to follow-up | |
RDEB | RDEB-HS |
COL7A1 (n = 3) c.5287C > G 9 c.6266_6269delCCCC 9 c.5797C > T 41 c. 5532 + 5G > A 42 |
p.Arg1753Xaa 9
Frameshift deletion resulting in a premature stop codon 9 p.Arg1933Xaa 41 Splice site mutation resulting in a 45-bp deletion 42 |
33 25 22 |
no yes NS |
NS no NS |
NS NA NS |
NS NA NS | Lymph nodes metastases but death due to secondary amyloidosis 41 | |
RDEB-nHS |
COL7A1 (n = 3) c.238G > C 13 c.3631C > T 13 NS 43 5818delC 44a |
p.Ala80Pro 13
p.Gln1211Xaa 13 p.Glu2858Xaa and p.Gly2576Arg 43 p.Gly1815Arg 44 |
27 12 44 |
no no no |
NS NS no |
NS yes no |
NS 9 NA |
Sentinel lymph node performed and negative13
Follow-up period not specified43 Follow-up period of 3 years44 | ||
KS | NA |
FERMT1
d (n = 3) c.328C > T 45 c.1140-6 T > A 46 |
p.Arg110Xaa 45
Splice-site mutation 46 |
>60 (n = 2) 16 |
NS (n = 2) yes |
NS (n = 2) yes |
NS (n = 2) NA |
NS (n = 2) NA |
The patients were siblings45
Lymph nodes metastases (without histological proof)46 |