INTRODUCTION: Erythropoietic Protoporphyria (EPP) caused skin light sensitivity and liver cirrhosis in a 35-year-old patient who subsequently developed liver-failure.

METHODS: In absence of a human leukocyte antigens (HLA)-matched-unrelated donor, the father consented in donating for split liver transplantation (SLT) and allogeneic hematopoietic cell transplantation (HCT).

RESULTS: After bridging therapy and successful SLT a first paternal HCT resulted in graft failure. For a second haploidentical HCT a different regimen was applied leading to engraftment while protoporphyrin (PP) blood-levels decreased to normal and skin light sensitivity skin disappeared, leading to complete remission in an immunosuppressive-free patient.

CONCLUSION: Haploidentical transplantation is a feasible treatment approach in EPP-patients.

TRIAL REGISTRATION: The authors have confirmed clinical trial registration is not needed for this submission.