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Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma

Taibjee, S. M., Stevenson, O. E., Abdullah, A., Tan, C. Y., Darbyshire, P., Moss, C., Goodyear, H., Heagerty, A., Whatley, Sharon D. and Badminton, Michael Norman 2007. Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma. British Journal of Dermatology 156 (3) , pp. 567-571. 10.1111/j.1365-2133.2006.07699.x

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Abstract

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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > RD Surgery
R Medicine > RL Dermatology
Uncontrolled Keywords: allogeneic, bone marrow transplantation, congenital erythropoietic porphyria, graft-versus-host disease, Günther's disease, postinflammatory hypopigmentation
Publisher: Wiley-Blackwell
ISSN: 0007-0963
Last Modified: 04 Jun 2017 04:20
URI: http://orca.cf.ac.uk/id/eprint/37046

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