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

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.

• 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)

Topics

• Bone Marrow Transplantation (adverse effects)
• Child
• Female
• Graft vs Host Disease (etiology, pathology)
• Humans
• Hypopigmentation (etiology, pathology)
• Porphyria, Erythropoietic (diagnosis, pathology, therapy)