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Observational Study
. 2021 Aug 24;101(8):adv00523.
doi: 10.2340/00015555-3875.

Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study

Susan J Robertson  1 , Elizabeth Orrin, Manpreet K Lakhan, Gavin O'Sullivan, Jessie Felton, Alistair Robson, Danielle T Greenblatt, Catina Bernardis, John A McGrath, Anna E Martinez, Jemima E Mellerio
Affiliations
Observational Study

Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study

Susan J Robertson et al. Acta Derm Venereol. .

Abstract

Epidermolysis bullosa (EB), notably severe recessive dystrophic EB (RDEB-S), is associated with increased risk of aggressive mucocutaneous squamous cell carcinomas, the major cause of mortality in early adulthood. This observational, retrospective case review describes a series of EB patients with cutaneous squamous cell carcinomas over a 28-year period. Forty-four EB patients with squamous cell carcinomas were identified with a total of 221 primary tumours. They comprised: 31 (70%) with RDEB-S, 4 (9%) with other RDEB subtypes, 5 (11.4%) with dominant dystrophic EB, 3 (6.8%) with intermediate junctional EB and 1 (2.3%) with Kindler EB. Squamous cell carcinomas occurred earlier in RDEB-S (median age 29.5 years; age range 13-52 years) than other groups collectively (median age 47.1 years; age range 30-89 years) and most had multiple tumours (mean 5.8; range 1-44). Squamous cell carcinoma-associated mortality was high in RDEB-S (64.5%), with median survival after first squamous cell carcinoma of 2.4 years (range 0.5-12.6 years), significantly lower than previous reports, highlighting the need for early surveillance and better treatments.

Keywords: cancer; prognosis; squamous cell carcinoma; epidermolysis bullosa.

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Anatomical distribution of primary squamous cell carcinomas arising in patients with different forms of epidermolysis bullosa (EB). Most severe recessive dystrophic EB (RDEB-S) tumours arose over bony prominences, particularly the joints of hands and feet. Dominant dystrophic EB (DDEB) and RDEB- pruriginosa (RDEB-Pru) tumours were more common on the lower legs, particularly the shins. All squamous cell carcinomas in the Kindler EB (KEB) patient arose on the hand. JEB: junctional EB; Int: intermediate; Inv: inversa.
Fig. 2
Fig. 2
Temporal occurrence of squamous cell carcinomas (SCCs) in each patient with severe recessive dystrophic epidermolysis bullosa. Each patient is represented as a horizontal line showing the occurrence of their tumours from the age at first tumour denoted on the y-axis. The size of the circle denotes the number of SCCs diagnosed at each time point. In some patients there was a trend for developing greater numbers of tumours at shorter intervals over time.
Fig. 3
Fig. 3
Overall survival from diagnosis of first squamous cell carcinomas in patients with severe recessive dystrophic epidermolysis bullosa.
See this image and copyright information in PMC

References

    1. Bardhan A, Bruckner-Tuderman L, Zuger C, Fine JD, Harper N, Has C, et al. . Epidermolysis bullosa. Nat Rev Dis Primers 2020; 6: 78. - PubMed
    1. Has C, Bauer J, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, et al. . Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol 2020; 183; 614–627. - PubMed
    1. Fine JD, Johnson LB, Weiner M, Li KP, Suchindran C. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986–2006. J Am Acad Dermatol 2009; 60: 203–211. - PubMed
    1. Montaulié H, Chiaverini C, Sbidian E, Charlesworth A, Lacour JP. Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. Orphanet J Rare Dis 2016; 11: 117. - PMC - PubMed
    1. Kim M, Li M, Intong-Wheeler LR, Tran K, Marucci D, Murrell MF. Epidemiology and outcome of squamous cell carcinoma in epidermolysis bullosa in Australia and New Zealand. Acta Derm Venereol 2018; 98: 70–76. - PubMed

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