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Table 3 Detailed demographic, clinical and histopathological features of the patients

From: Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases

 

All n (%)

EBS

JEB

DEB

DDEB RDEB

KS

Sex

M n (%)

63 (53.8)

2

15

5

37

4

F n (%)

54 (46.2)

1

4

2

44

3

SRj (M/F)

1.17

2

3.75

2.5

0.84

1.33

Ethnicity

Caucasian

59 (50.4)

1

16

3

36

3

Asian

10 (8.5)

1

0

0

8

1

North African

5 (4.3)

0

0

0

5

0

Hispanic

1 (0.9)

0

0

0

0

1

NS

42 (35.9)

1

3

4

32

2

Median age at diagnosis years (range), specified in 117 cases (100 %) n = number of patient

36

(6-71)

117

41

(39-41)

3

49

(28-71)

19

45

(34-69)

7

32.5

(6-67)a

81

38.5

(16-65)

7

Genetic mutations confirmed diagnosisb

19 (16.2)

2

7

1

6

3

Fitzpatrick skin type and sun exposure

NS

NS

NS

NS

NS

NS

Family history of cSCCc

Present

13

1

4

3

4

1

Absent

25

2

1

2

19

1

NS

79

0

14

2

58

5

Locationd

Lower limb

64 (54.7)

2

13

6

41

2

Upper limb

36 (30.8)

0

4

1

28

3

Other

7 (5.9)

0

Sacrum: 1

0

Groin: 1

Neck: 1 Buttock: 1

Back: 1

Trunk: 1

Head: 1

0

Extra-cutaneous

10 (8.6)

Tongue: 1

Vulva: 1

Nasal cavity: 1

Anal: 1

0

Maxillary sinus: 2

Esophagus: 2k

Hard palate: 1

Epiglottis: 1

Clinical featurese

Ulcerated

44 (44.9)

2

5

6

28

3

Exophytic/

hyperkeratotic

36 (36.7)

0

3

1

30

2

Verrucous,

crusted

or erosive

18 (18.4)

1

4

0

13

0

NS

19

0

1

6

10

2

Sizef

specified in 88 cases

(75.2 %)

>2 cm <5 cm

19 (21.6)

0

1

1

15

2

≥5 cm

33 (37.5)

1

5

3

22

2

≤2 cm

36 (40.9)

0

0

0

34

2

 

NS

29

2

12

3

11

1

cSCC durationg, specified in 42 cases (35.9 %)

n = number of patient

mean (months, mo)

(median, range, mo)

42

9.7

(6, 1-36)

1 (4mo)

NA

NA

5

13.2

(7, 5-36)

4

14.8

(9, 5-36)

29

9.0

(6, 1-36)

3

5.3

(6, 2-6)

Histopathological

Characteristicsh

specified in 88 cases

(75.2 %)

Well differentiated

65 (73.9)

1

10

7

44

3

Moderately differentiated

16 (18.2)

1

2

0

11

2

Poorly differentiated

7 (7.9)

1

0

0

5

1

NS

29

0

7

0

21

1

Metastases, specified in 88 cases

(75.2 %)

Loco-regional

14 (15.9)

1

0

0

10

3

Visceral

20 (22.7)

0

2l

0

18

0

Death related to cSCCi, specified in 78 cases (66.7 %)

32 (41.0)

0

6

0

25

1

Relapse, specified in 72 cases (61.5 %)

Yes

No

26 (36.1)

46 (63.9)

1

1

1

14

0

2

22

27

2

2

Mean time to recurrence (months), specified in 26 cases (22.2 %)

14.9

NA

(1case)

NS

(2cases)

33

(6cases)

1

(1case)

9.5

(18cases)

1

(1case)

  1. DDEB dominant dystrophic epidermolysis bullosa, DEB dominant epidermolysis bullosa, EBS EB simplex, F female, JEB junctional epidermolysis bullosa, KS Kindler syndrome, M male, RDEB recessive dystrophic epidermolysis bullosa, RDEB-I recessive dystrophic epidermolysis bullosa-Inversa, NS not specified, NA not applicable
  2. aSix cases were reported in childhood or adolescence (range 6-17years), all of them affecting RDEB patients
  3. bThe mutated genes depending on EB type and subtype are defined in Table 4
  4. cFamily history was specified in only 38 cases (32.5 %)
  5. dExcept for one patient with JEB, cSCCs occurred in areas of chronic blistering, non-healing erosions/ulcerations or atrophic scarring. When a patient had several cSCCs, the most relevant location was taken into account
  6. eClinical features were specified in 98 cases (83.8 %)
  7. fWhen for the same patient several cSCCs developed the one with the largest size was taken into account
  8. gThe time between the occurrence of cSCC and the confirmed diagnosis from a biopsy
  9. hUnusual histological findings: verrucous cSCC (7 cases) and 2 angiosarcoma-like cSCC (2 cases). Depth beyond dermis, depth beyond subcutaneous fat, perineural invasion and lymphovascular invasion, were very rarely reported: depth mentioned in only 12 cases (8 RDEB, 2 JEB, 1 KS and 1 EBS) and perineural invasion in only 1 case (KS)
  10. iAmong these 78 cases, the death was related to SCC in 32 cases. The outcome of patients was not specified in 29.9 % (n = 35) of cases. Four patients were lost to follow-up
  11. j Sex ratio; kOne of the 2 cases concerned RDEB-I j (for the second case of RDEB-I cSSC was on the lower limb); l Lung metastases for one, NS for the other
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172