IADR Abstract Archives
An Unusual Form of Epidermolysis Bullosa With Recurrent Oral SCCs
Objectives: This report describes a 61 year old male who presents with recurrent oral squamous cell carcinomas (SCCs) at various sites over five years. The patient has an unique form of autosomal recessive dystrophic epidermolysis bullosa (RDEB) with a rare variant in COL7A1 gene. Cutaneous SCCs in RDEB is well reported however Oral SCCs are less common. The World Health Organisation Collaborating Centre for Oral Cancer regarded Epidermolysis Bullosa (EB) to have limited evidence as an Oral Potentially Malignant Disorder (OPMD). The objective of this study is to highlight the manifestations and challenges in this uniusual form of RDEB in which future development of pathology is uncertain and assess current evidence regarding EB as a OPMD.
Methods: This case report evaluates the presentation and management of recurrent Oral SCCs in the patient. A literature review is undertaken to investigate current evidence base of Oral SCCs in patients with EB.
Results: The persistent nature of mucosal changes and development of malignancy along with their management is difficult and a challenge to maintain a good oral function and quality of life. Areas exposed to high trauma such as the buccal mucosa and lateral border of the tongue are higher risk areas for development of Oral SCCs. Other case reports of Oral SCCs are limited and most commonly associated with Kindler EB.
Conclusions: Cutaneous SCCs are more commonly reported than Oral SCCs in patients with RDEB. Reports of Oral SCC development in patients with EB are small thus the evidence base is still limited in relation to EB as an OPMD. Reporting to a centralised database of Oral SCC cases in patients with EB is required to identify a potential subtype at risk. Also a well designed observational study will ascertain if there is an overall increased risk of Oral SCC compared to the general population. Our case has a unique form of autosomal RDEB where current knowledge regarding its manifestations are limited. The recurrent nature of Oral SCCs potentially indicate an increased risk associated with this particular form however further cases need to be observed to confirm this risk.
Methods: This case report evaluates the presentation and management of recurrent Oral SCCs in the patient. A literature review is undertaken to investigate current evidence base of Oral SCCs in patients with EB.
Results: The persistent nature of mucosal changes and development of malignancy along with their management is difficult and a challenge to maintain a good oral function and quality of life. Areas exposed to high trauma such as the buccal mucosa and lateral border of the tongue are higher risk areas for development of Oral SCCs. Other case reports of Oral SCCs are limited and most commonly associated with Kindler EB.
Conclusions: Cutaneous SCCs are more commonly reported than Oral SCCs in patients with RDEB. Reports of Oral SCC development in patients with EB are small thus the evidence base is still limited in relation to EB as an OPMD. Reporting to a centralised database of Oral SCC cases in patients with EB is required to identify a potential subtype at risk. Also a well designed observational study will ascertain if there is an overall increased risk of Oral SCC compared to the general population. Our case has a unique form of autosomal RDEB where current knowledge regarding its manifestations are limited. The recurrent nature of Oral SCCs potentially indicate an increased risk associated with this particular form however further cases need to be observed to confirm this risk.