Squamous Cell Carcinoma in Junctional and Dystrophic Epidermolysis Bullosa

Abstract

We report here on three patients suffering from recessive dystrophic epidermolysis bullosa and one suffering from generalized atrophic benign epidermolysis bullosa, all of whom developed cutaneous squamous cell carcinoma. Our observations and a review of the literature suggest that squamous cell carcinoma in generalized atrophic benign epidermolysis bullosa is very infrequent and has a better outcome compared to skin cancer in recessive dystrophic epidermolysis bullosa. These differences could be explained by the distinct pathophysiology and clinical course of each of these variants of epidermolysis bullosa. In contrast to UV-induced skin cancer, the tumours in epidermolysis bullosa develop on distal extremities at sites of chronic wound healing. The cases reported here underline the exceptional importance of early histopathological assessment of suspicious skin lesions in patients with epidermolysis bullosa.

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

“…The procedure led to negative results in all cases. The outcome of these patients was not specified except for one, who was still alive 12 months after the procedure [8, 9, 25, 26]. …”

“…Five patients presented with grade 1 skin toxicity (3 RDEB, 1 KS and 1 JEB). Grade 2 cutaneous toxicity was observed in 1 RDEB patient and grade 3 in 2 RDEB patients [5, 8, 21, 29–41]. …”

Histopathological Variants of Cutaneous Squamous Cell Carcinoma: A Review

“…Generally, de novo SCC will emerge in the setting of long-standing ulcers, burn scars, or osteomyelitis. It can also be seen in chronic inflammatory conditions such as discoid lupus erythematosus and dystrophic epidermolysis bullosa [41–44]. The tendency for malignancies to develop in burn scars was first described by Marjolin in 1827, and accordingly, are referred to today as Marjolin's ulcers [45].…”

An RNA-targeted therapy for dystrophic epidermolysis bullosa

“…These patients suffer from strong pain, extensive skin blistering accompanied by chronic infections and mutilating scarring. Moreover, individuals with RDEB have a high risk of developing aggressive metastasizing squamous cell carcinomas in skin areas bearing chronic ulcers, which can lead to premature death in the third to fourth decade of life ( 4 ). Other than symptomatic treatments there is no effective therapy available.…”