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Allogeneic bone marrow transplantation in a 7‐year‐old girl with congenital erythropoietic porphyria: a treatment dilemma
Author(s) -
Taibjee S.M.,
Stevenson O.E.,
Abdullah A.,
Tan C.Y.,
Darbyshire P.,
Moss C.,
Goodyear H.,
Heagerty A.,
Whatley S.,
Badminton M.N.
Publication year - 2007
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2006.07699.x
Subject(s) - medicine , girl , bone marrow transplantation , porphyria , bone marrow , transplantation , dilemma , pediatrics , erythropoiesis , surgery , anemia , psychology , developmental psychology , philosophy , epistemology
Summary Congenital erythropoietic porphyria (CEP, Günther's disease) has a very variable phenotype. In the more severely affected, bone marrow transplantation (BMT) is potentially curative, but is not without risks. We describe a 7‐year‐old girl with CEP characterized by severe photosensitivity but only mild anaemia, in whom the difficult decision to proceed with allogeneic BMT was made after discussion in a multidisciplinary team. She has shown successful engraftment, accompanied by biochemical and clinical resolution of her metabolic disease. She remains well 3 years later, the oldest patient with CEP receiving BMT to survive beyond 12 months. However, she has experienced significant morbidity including florid cutaneous graft‐versus‐host disease with postinflammatory hypopigmentation. Her case is important in highlighting the delay in diagnosis not uncommon in this condition and the complex decision‐making process involved in proceeding with BMT.