Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature.

Background: Squamous cell carcinoma (SCC) is the most severe complication and most common cause of death in patients with recessive dystrophic epidermolysis bullosa. The risk of developing SCC among patients with junctional epidermolysis bullosa (JEB) is unclear from the literature; however, in our center we noticed an unexpected number of SCCs among adult patients with JEB.

Objective: To review all documented patients with JEB in whom an SCC developed, both from our epidermolysis bullosa (EB) center and those reported in the literature.

Methods: A search in our EB registry documenting all JEB patients visiting our EB referral center from 1990 through 2010 revealed 7 JEB patients who developed 1 or more SCCs. A systematic literature search revealed 8 relevant articles documenting a total of 7 patients who developed an SCC.

Results: In our EB registry we found 7 patients with JEB who developed an SCC; these were all adults classified with non-Herlitz type JEB. The frequency of developing an SCC among adult JEB patients (n = 28) in our center was therefore 25%. In the literature, we found 7 case reports of JEB complicated by SCC (also classified as JEB, non-Herlitz type), bringing the total number of documented cases to 14. The first SCC in JEB patients developed at an average age of 50 years (median, 52 years; range, 28-70 years). In 9 of 14 cases, multiple primary SCCs occurred, with a total of 45 SCCs. The SCCs are most often located on the lower extremities, in areas of chronic blistering, long-standing erosions, or atrophic scarring. Three patients (21%) developed metastases and died on average 8.9 years after diagnosis of the initial SCC.

Limitations: This study was retrospective and the statistical analyses were based on a small number of patients.

Conclusions: From their third decade, adult patients with JEB have an increased risk (1:4) of developing SCC on their lower extremities. The SCCs have a high recurrence rate and follow an aggressive course that results in death in 1 of 5 patients. We recommend annual checks of all JEB patients for SCC starting at 25 years of age.