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 6 Reported cases of (c)SCC, in EB patients treated by radiotherapy and topical photodynamic therapy

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

Reference (s)	Age yr/sex	EB subtype	Histological subtype of cSCC	Histological differentiation	Site(s) treated	Radiation delivery	Response	Survival (time before death)	Note (s)
Didolkar¹⁹	33 F	RDEB	Adenoacanthoma	Unknown	Sacrum	Cumulated dose = 60Gy	GR	Death (?)	Death due to hypercalcemia (and unknown metastasis)
Reed²⁰	32 M	RDEB	Unknown	Unknown	Back	Unknown	GR	Death (3 years)	Death due to other cSCC
Keeff²¹	35 F	RDEB	Common	Well	Hand	3Gyx10 = 30Gy 3Gyx11 = 33Gy	PR then NR	Death (?)
McGrath²²	48 F	RDEB	Angiosarcomatoid	Unknown	Wrist Axilla	5Gyx9 = 45Gy 4Gyx3 = 12Gy	NR PR	Death (6months)
Schreiber²³	33 M	RDEB	Unknown	Unknown	Cervical lymphadenopathy	Unknown	Unknown	Unknown
Bastin²⁴	41 F 28 M	RDEB	Common Unknown	Well Unknown	Axilla Axilla	1.8Gyx32 = 57.6Gy 1.5x25Gy = 37.5Gy	PR then NR NR	Death (4months) Death (1month)
Lotem²⁵	34 F	KS	Common	Well	Hard palate	1.8x40Gy = 72Gy	CR	Alive at 2 years
Weber¹²	26 F	RDEB	Common	Moderately	Leg and groin	Cumulated dose = 60Gy	PR	Death (7months)
Mseddi²⁶	18 F	RDEB	Common	Well	Groin	Cumulated dose = 45Gy	NR	Death (2months)
Mallipedi²⁷	45 M	JEB	Unknown	Unknown	Bladder	Unknown	Unknown	Unknown	Lost to follow-up
Souza²⁸	51 F	RDEB	Bowen disease	Not applicable	Hand	Not applicable	CR	Alive at 2 years	PDT+ 5ALA
Emmanuel²⁹	57 F	KS	Unknown	Moderately-poorly	Hand	Unknown	NR	Unknown	Neoadjuvant RTH
Arnold⁷	24 F	RDEB	Unknown	Well	Arm Axilla	Cumulated dose = 61.2 and 50Gy	PR	Alive at 3months	Remission probably due in part to systemic therapy^a
Mituzani³⁰	43 M	KS	Common	Well	Knee and epiglottis	Unknown	CR	Alive at 2.5 years
Yuen⁵	55 M	JEB	Common	Unknown	Nasal cavity	Unknown	CR	Alive at 7months
Onsun³¹	45 F	RDEB-I	Unknown	Well	Oesophagus	Unknown	NR	Death (8months)
Kim¹⁸	26 F 43 M	RDEB	Common	Moderately Well	Axilla Axilla	Unknown	NR	Death (6months) Death (2months)	Despite systemic treatment^{b, c}

CR complete response, cSCC squamous cell carcinoma, F female, GR good response, EB inherited epidermolysis bullosa, JEB junctional epidermolysis bullosa, KS Kindler syndrome, M male, mo month, NR non-response, PDT photodynamic therapy, PR partial response, RDEB recessive dystrophic epidermolysis bullosa, RTH radiotherapy, Yr year, 5ALA 5 aminolevulinic-acid
^a5FU-cisplatin then carboplatin-taxol then cetuximab
^bcetuximab then cetuximab-gemcitabine
^ccetuximab then methotrexate orally then methotrexate intravenously

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com