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Table 4 Evolution of the disease in EB patients for whom diagnoses were confirmed by molecular analysis (n = 19)

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
  1. AR autosomal recessive, DDEB dominant dystrophic epidermolysis bullosa, DEB dystrophic epidermolysis bullosa, DM Dowling-Meara, DNA deoxyribonucleic acid, EBS, EB simplex, JEB junctional epidermolysis bullosa, KS Kindler syndrome, HS hallopeau-Siemens, NH non-Herlitz, n-HS non Hallopeau-Siemens, RDEB recessive dystrophic epidermolysis bullosa, NA not applicable, NS not specified, KRT keratin, LAMB3 laminin subunit beta 3, COL17A1 collagen type XVII alpha 1, COL7A1, collagen type VII alpha 1, FERMT1 Fermitin family member 1, KIND1 Kindlin-1. All of these genes are named according to the HUGO Gene Nomenclature Committee [47]
  2. aWe have chosen to write the mutation as it has been mentioned in the article (12,44), in order to do not misinterpret the data
  3. bAll of these patients had laminin-332 reduced in immunofluorescence, except for the patient from the Mohr et al. study [13] with laminin-332 negative
  4. cThese 2 patients were COL17A negative in immunofluorescence
  5. dIn the article of Arita et al. [20], the gene was named KIND1, but it is currently known as FERMT1 according to the HUGO Gene Nomenclature Committee [47]
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172

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