Document Detail

Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature.
MedLine Citation:
PMID:  12534613     Owner:  NLM     Status:  MEDLINE    
Congenital 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.
A P Kontos; D Ozog; C Bichakjian; H W Lim
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  The British journal of dermatology     Volume:  148     ISSN:  0007-0963     ISO Abbreviation:  Br. J. Dermatol.     Publication Date:  2003 Jan 
Date Detail:
Created Date:  2003-01-21     Completed Date:  2003-03-19     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  160-4     Citation Subset:  IM    
Department of Dermatology, Henry Ford Health System, Detroit, MI 48202, USA.
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MeSH Terms
Myelodysplastic Syndromes / complications*
Porphyria, Erythropoietic / complications*,  metabolism,  pathology
Porphyrins / analysis
Reg. No./Substance:

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