J Pediatr Genet 2023; 12(02): 097-104
DOI: 10.1055/s-0043-1763257
Review Article

Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review

Brenda Lamônica Rodrigues de Azevedo
1   Federal University of Espírito Santo, Health Science Center, Graduate Program in Dental Science, Vitória, ES, Brazil
Gabriel Marim Roni
2   Federal University of Espírito Santo, Health Science Center, Morphology Department, Medical School, Vitória, ES, Brazil
Rosalie Matuk Fuentes Torrelio
3   Plastic Surgery, Our Lady of Glory Children's Hospital, Debra, Vitória, ES, Brazil
4   Federal University of Espírito Santo, Health Science Center, Morphology Department, Graduate Program in Dental Science, Vitória, ES, Brazil
› Author Affiliations


Recessive dystrophic epidermolysis bullosa (RDEB) is a severe subtype of epidermolysis bullosa caused by changes in collagen VII with a high risk of early development of cutaneous squamous cell carcinoma (cSCC). This review aimed to discuss the relationship between the recurrent healing process, the appearance of fibrosis, and malignant epithelial transformation in RDEB. We searched PubMed, the Regional Portal of the Virtual Health Library, and Embase for articles on the relationship between blistering, recurrent scarring, and fibrosis in the context of cSCC and RDEB. That alterations of collagen VII result in blister formation, scar deficiency associated with inflammation, and increased expression of transforming growth factor β. These events promote the differentiation of myofibroblasts and the expression of profibrotic proteins, leading to structural changes and the establishment of a microenvironment favorable to carcinogenesis. Patients with RDEB and areas of recurrent scarring and fibrosis may be more prone to the development of cSCC.

Publication History

Received: 26 August 2022

Accepted: 16 January 2023

Article published online:
24 February 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
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