TY - JOUR
T1 - Cutaneous squamous cell carcinoma in epidermolysis bullosa
T2 - A 28-year retrospective study
AU - Robertson, Susan J.
AU - Orrin, Elizabeth
AU - Lakhan, Manpreet K.
AU - O’sullivan, Gavin
AU - Felton, Jessie
AU - Robson, Alistair
AU - Greenblatt, Danielle T.
AU - Bernardis, Catina
AU - McGrath, John A.
AU - Martinez, Anna E.
AU - Mellerio, Jemima E.
N1 - Publisher Copyright:
© 2021, Medical Journals/Acta D-V. All rights reserved.
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/8
Y1 - 2021/8
N2 - 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.
AB - 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.
KW - Cancer
KW - Epidermolysis bullosa
KW - Prognosis
KW - Squamous cell carcinoma
UR - http://www.scopus.com/inward/record.url?scp=85114958274&partnerID=8YFLogxK
U2 - 10.2340/00015555-3875
DO - 10.2340/00015555-3875
M3 - Article
C2 - 34230977
AN - SCOPUS:85114958274
SN - 0001-5555
VL - 101
JO - Acta Dermato-Venereologica
JF - Acta Dermato-Venereologica
IS - 8
M1 - adv00523
ER -