Plaveiselcelcarcinomen en epidermolysis bullosa

A 27-year-old male with recessive dystrophic epidermolysis bullosa, severe generalized (RDEB-SG), presented with a tumor on the left lateral malleolus that had been present for six months. Histopathologic examination showed a moderate to well differentiated squamous cell carcinoma (SCC), and excision with an 1 cm margin was performed. After four years, he developed a recurrence of this tumor, which was localized at the margin of the previously excised area. Excision with 1 cm margin was incomplete, therefore complete re-excision was subsequently performed. During follow up, he developed two more SCC's, which were both located near the aforementioned SCC. Some forms of EB are associated with a higher risk of developing SCCs. These SCCs usually arise at sites of chronic wounds and scarring. In patients with RDEBSG, the cumulative risk of having at least one SCC is 90.1[%] by the age of 55 years. Despite the fact that most SCCs are well differentiated, they generally behave more aggressively than conventional SCCs, with a higher risk to metastasize. SCCs are therefore the leading cause of death in patients with RDEB. Recently, best practice guidelines for EB-associated cutaneous SCC were published for surveillance, tumor staging and treatment strategies. This can help the treating physician in decision making. Surgical excision with wide margins (2 cm) is the treatment of choice for SCCs in EB.