SG19 Warts and all? A 14-year update on the world’s first renal transplantation in a patient with junctional epidermolysis bullosa

Abstract

We present an update on the world’s first reported renal transplantation in an individual with epidermolysis bullosa. A 46-year-old Chinese man with compound heterozygosity for a splice mutation (IVS7-12T>A) in intron 7, and a nonsense mutation in exon 21 (p.Trp1040X) within the LAMB3 gene developed declining renal function at 25 years of age, with renal biopsy confirming IgA nephropathy. Haemodialysis was commenced and at age 33 years cadaveric renal transplantation was performed, with a 1/1/0 human leucocyte antigen-A/B/DR tissue mismatch. There were no surgical or anaesthetic complications and immunosuppression with tacrolimus, mycophenolate mofetil and prednisolone was initiated. There were no significant infections. At the 9-year follow-up, systemic immunosuppression was reduced. Six months later, extensive human papillomavirus (HPV)-driven Bowen disease was found to have developed within the groin, with foci of invasive squamous cell carcinoma (SCC) found on wide local excision. Due to multiple HPV-related lesions forming in the groin, four serial HPV 9-valent vaccines were administered, with good clinical response; however, crops of new lesions continued to arise. Inguinal lymph node metastases were detected 12 months after excision of SCC, and regional palliative resection was performed. Treatment with immune checkpoint inhibitors was not pursued due to risk of graft rejection. Topical imiquimod and 5-fluorouracil have been employed to treat new areas of Bowen disease, without significant ulceration. Currently, 14 years after renal transplantation, renal function has declined, with plans for haemodialysis. There are currently only three other published cases of renal transplantation in individuals with EB, with follow-up periods ranging from 4 months to 75 months. This case demonstrates the longest reported follow-up, highlighting that renal transplantation can be safely performed in individuals with junctional epidermolysis bullosa, and with comparable graft survival. Risks from immunosuppression must be considered in this population given the increased risk of infectious and neoplastic complications.