Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18

Summary 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 ch...

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Bibliographic Details
Published in:British journal of dermatology (1951) 2006-08, Vol.155 (2), p.464-466
Main Authors: Sarkany, R.P.E., Ross, G., Willis, F.
Format: Article
Language:English
Subjects:
acquired
Aged
Biological and medical sciences
chromosome 18
Chromosome Deletion
Chromosomes, Human, Pair 18 - genetics
Dermatology
Female
ferrochelatase
Ferrochelatase - genetics
Hematologic and hematopoietic diseases
Humans
Karyotyping
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
marrow
Medical sciences
Metabolic diseases
myelodysplasia
Myelodysplastic Syndromes - genetics
Myelodysplastic Syndromes - pathology
Other metabolic disorders
Pigments (porphyrias, hyperbilirubinemias...)
protoporphyria
Protoporphyria, Erythropoietic - genetics
Skin involvement in other diseases. Miscellaneous. General aspects
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Summary:Summary 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.
ISSN:0007-0963
1365-2133
DOI:10.1111/j.1365-2133.2006.07318.x