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

Montaudié, H.; Chiaverini, C.; Sbidian, E.; Charlesworth, A.; Lacour, J-P.

doi:10.1186/s13023-016-0489-9

Orphanet Journal of Rare Diseases

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	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	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

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]
^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
^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
^cThese 2 patients were COL17A negative in immunofluorescence
^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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ISSN: 1750-1172

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