A six-month-old girl with extrahepatic biliary atresia received living-donor liver transplantation [LTX] (segments II/III) with donor biliary-recipient enteric anastomosis from her 37-year-old healthy mother.

Immunosuppression after LTX was with cyclosporine and prednisolone. The infant did not receive trimethoprim/sulfamethoxazole. Six weeks after LTX acute rejection (RAI 5) was treated with prednisolone pulse therapy for six days. Eight weeks after LTX significant stenosis of the biliary-enteric anastomosis required percutaneous trans-hepatic cholangiography and dilatations. Recurrent cholangitis was treated with piperacillin, tazobactam, and meropenem.

5 months after LTX, the child developed very fragile skin on light exposed areas in (face and hands/fingers) (pictures will be shown). 4 months later she developed bullae, some of which broke and led to blisters that were slow to heal. Milia, hyperpigmentation and scars developed. As a result, the child had a mixed appearance of her skin: blisters, wounds, crusty erosions, milia, hyperpigmentation and scars. Salient biochemical results are summarized in the table 1.

Mutational analysis of PPOX gene revealed heterozygous c.471_ 471+4del, p.(?) variant in the mother and the girl. Her mother has done well after donating part of her liver with no skin lesions or other clinical features of VP, despite elevated urinary and fecal porphyrins [table 1].

Taken together, the skin lesions, plasma fluorescence screen results, high proportion of fecal Copro isomer III, and mutational findings establish the diagnosis of VP, which became clinically manifest only after LTX, complicated by chronic cholestatic liver disease.

Conclusion This observation clearly shows the influence of endogenous (mutation, PPOX deficiency) and exogenous factors that may lead to the clinically manifest VP even in early childhood We thank Daniela Jakob for strongly supporting this report and kindly providing pictures from her daughter.