title: Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18.
abstract: We report a patient aged 73 years, who developed erythropoietic protoporphyria with typical photosensitivity, at the same time as she was diagnosed as having myelodysplastic syndrome. The myelodysplastic clone in her bone marrow completely lacked one of the two copies of chromosome 18. As chromosome 18 is the locus of the ferrochelatase gene, we postulate that this chromosomal deletion led to reduced synthesis of the enzyme in the bone marrow clone, so causing the porphyria. The nature of the remaining ferrochelatase allele was examined by polymorphism analysis and we discuss the insights that this patient's genotype may reveal about the pathogenesis of porphyria in myelodysplasia.
authors.affiliation: Department of Dermatology, St George's Hospital and Medical School, Blackshaw Road, London SW17 0QT, U.K. robert.sarkany@stgeorges.nhs.uk
authors.forename: R P E
authors.initials: RP
authors.lastname: Sarkany
authors.forename: G
authors.initials: G
authors.lastname: Ross
authors.forename: F
authors.initials: F
authors.lastname: Willis
mesh_terms: D000368:Aged; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D005294:Ferrochelatase / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology; D046351:Protoporphyria, Erythropoietic / Q000235:genetics*
chemical_list: D005294:Ferrochelatase