Urothelial Carcinoma of the Penile Urethra as a Potential Secondary Complication of Junctional Epidermolysis Bullosa: A Case Report and Review of the Literature.

Junctional epidermolysis bullosa is a rare autosomal recessive genetic dermatosis which is characterised by cutaneous and mucosal blistering. Cutaneous squamous cell carcinomas arising in areas of chronic wounds and scarring are a well-recognised complication. Mucosal involvement of the respiratory, urogenital and gastrointestinal tract can occur, though reports of associated mucosal carcinomas are scarce. We present a case of an 81-year-old male with junctional epidermolysis bullosa, multiple metastatic cutaneous squamous cell carcinomas and a papillary urothelial carcinoma. He was diagnosed with an invasive, high-grade pT2 papillary urothelial carcinoma of the penile urethra at age 74. This was initially identified by the patient as a nonhealing ulcer adjacent to the penile meatus on a background of recurrent blistering of the glans penis. Staging imaging revealed no nodal enlargement or distant metastasis. Management included a partial urethrotomy of the penile urethra, and he is currently in remission. We hypothesise that the urothelial carcinoma may have developed secondary to a permissive tumour microenvironment, which results from chronic inflammation and fibrosis in junctional epidermolysis bullosa.