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Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature

dc.contributor.authorKontos, A. P.en_US
dc.contributor.authorOzog, D.en_US
dc.contributor.authorBichakjian, C.en_US
dc.contributor.authorLim, Henry W.en_US
dc.date.accessioned2010-06-01T20:39:17Z
dc.date.available2010-06-01T20:39:17Z
dc.date.issued2003-01en_US
dc.identifier.citationKontos, A.P.; Ozog, D.; Bichakjian, C.; Lim, H.W. (2003). "Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature." British Journal of Dermatology 148(1): 160-164. <http://hdl.handle.net/2027.42/73760>en_US
dc.identifier.issn0007-0963en_US
dc.identifier.issn1365-2133en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/73760
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=12534613&dopt=citationen_US
dc.description.abstractCongenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease owing to the deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the porphyrin–haem synthetic pathway. Of the porphyrias, it is the most mutilating type, usually presenting early in life. To date, 12 documented cases of adult onset CEP have been reported. We report the second oldest documented patient with late onset CEP with incidental findings of thrombocytopenia and myelodysplasia with bone-marrow sideroblasts. We further discuss several current and future treatment options for this therapeutically challenging disease.en_US
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dc.format.mimetypeapplication/pdf
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dc.publisherBlackwell Science Ltden_US
dc.rights2003 British Association of Dermatologistsen_US
dc.subject.otherCongenital Erythropoietic Porphyriaen_US
dc.subject.otherGÜNther's Diseaseen_US
dc.subject.otherMyelodysplasiaen_US
dc.subject.otherPhotosensitivityen_US
dc.subject.otherUroporphyrinogen III Synthaseen_US
dc.titleCongenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literatureen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelDermatologyen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationum* Department of Dermatology, University of Michigan, Ann Arbor, MI U.S.A.en_US
dc.contributor.affiliationotherDepartment of Dermatology, Henry Ford Health System, Detroit, MI U.S.A.en_US
dc.identifier.pmid12534613en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/73760/1/j.1365-2133.2003.05040.x.pdf
dc.identifier.doi10.1046/j.1365-2133.2003.05040.xen_US
dc.identifier.sourceBritish Journal of Dermatologyen_US
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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