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.
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Authors | S M Taibjee, O E Stevenson, A Abdullah, C Y Tan, P Darbyshire, C Moss, H Goodyear, A Heagerty, S Whatley, M N Badminton |
Journal | The British journal of dermatology
(Br J Dermatol)
Vol. 156
Issue 3
Pg. 567-71
(Mar 2007)
ISSN: 0007-0963 [Print] England |
PMID | 17300251
(Publication Type: Case Reports, Journal Article)
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Topics |
- Bone Marrow Transplantation
(adverse effects)
- Child
- Female
- Graft vs Host Disease
(etiology, pathology)
- Humans
- Hypopigmentation
(etiology, pathology)
- Porphyria, Erythropoietic
(diagnosis, pathology, therapy)
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