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Table 2 All the KS patients that have developed SCC, ordered by the age at which the first tumor appeared. Yellow patients have been published previously to this study. SCC: Squamous Cell Carcinoma; WD: Well differentiated; MD: Moderately differentiated; AS: Altered splicing; RT: Reduced transcription; PTC: Premature termination codon; FS: Frameshift; UD: Unpublished data

From: Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Gender, Age Mutation Protein Age of cancer Localisation of SCC Histopath. of SCC Outcome Refs
M, 16 ISV9-6 T > A
c.1140-6 T > A
FS and PTC 16 Right lower leg WD aggressive SCC Present for 10 years as a hyperkeratotic plaque, then progress in 2 months.
F, 23 UD UD 23 Right hand Ulcerative and invasive MD SCC Methastasic and Nodes affected [33]
M, 40 c.1761 T > A and c.1089del/c.1089 + 1del p.Y587X and Exon 8 skipped. (p.L363 fs) 27 Palm of the right hand SCC recurrent 4 times Recurrent SCC [34]
F, 31 c.676 C > T p.Q226X 29 Fingers and dorsal hand WD early agressive Still alive UD
M, 34 c. 456dupA p.D153R fsX4 33 Oral mucosa, extending to tongue, lymph node metastases WD, early infiltrating SCC with metastases Deceased at 35 years [2]
F, 42 c.750G > A p.W250X 34 Hard palate WD SCC: unresectable treated with radiation 2 years follow up no recurrence. Now deceased. [35]
F, 40 c. 550-551insA p. S184 L fsX1 38 Fingers and hand SCC metastasic to limph nodes Deceased at 40 years [15]
M, 49 c.910G > T p. E304X 42, [20, 24] Right shoulder, upper lip, dorsum of the right hand SCC UD [36]
M, 60 c.676insC p.W250X 43, 45 Lip and later in penis SCC UD [37]
M, 48 c.958-1G > A AS
Intron 7
43 Upper Lip and dorsum of the hand 2 infiltrating WD SCC Still alive [2] and [22]
M, 60 c.958-1G > A AS
Intron 7
43 (44, 45, 45, 56) 1 upper lip;
2 third right finger;
3 right hand dorsum;
4 lower lip
5 fourth interdigital space of the left hand
1–3 Infiltrating SCC
All WD;
4, 5 in situ SCC.
Still alive [2]
F, 60 g.6000982_6009222del IVS13_15del
Large deletion and PTC in exon14
45, 53 1 SCC of the left hand
2 SCC of the lower lip
1 WD
2 WD early invasive
Deceased at the age of 60 years [23] and [11]
M, 49 c.910G > T p. E304X 48 Foot Poorly differentiated SCC
Diffuse metastases (skin & lung)
Deceased at the age of 50 years [2]
M, 52 c.328C > T p. R110X 48 lip SCC metastasic to limph nodes Deceased at the age of 52 years [15]
M, 71 c.328C > T p. R110X 50 Face and hands Hyperkeratotic SCC in situ
Multiple in situ SCCs
Still alive [38]
F, 58 c.96_97delAG p. R32S fsX63 52 Left arm Poorly differentiated SCC Amputation of left arm [2]
F, 52 c.95_96delAG p.R32fsX63 52 Lower lip SCC No follow up [39]
M, 65 g.70250_74168del p. P381R fsX36 52 (53, 55) 1 lower gingival mucosa and regional lymph nodes;
2 scalp;
3 lower lip
Infiltrating SCC, all WD Still alive [2]
F, 55 UD UD 55 buccal mucosa extended to both lips SCC Treated with radiation therapy with partial response [40]
M, 57 c.328 C > T p. R110X 57 Left hand moderate-to-poorly differentiated deeply invasive SCC Recurrent, requiring axillary node clearance and amputation. [10] and [41]
M, 65 c.1209C > G p. Y403X 57 Left Hand Invasive SCC WD Still alive [2]
F, 78 c.328C > T p. R110X 66 Face and hands Invasive SCC, BCC, In situ SCC Still alive [38]