Premium
020
Adult onset erythropoietic protoporphyria in association with myelodysplastic syndrome
Author(s) -
Thornton Spann C.,
Tok J.,
Nimmer S.,
Zug K.,
Deleo V.
Publication year - 2002
Publication title -
photodermatology, photoimmunology and photomedicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.736
H-Index - 60
eISSN - 1600-0781
pISSN - 0905-4383
DOI - 10.1034/j.1600-0781.2002.180208_20.x
Subject(s) - erythropoietic protoporphyria , protoporphyrin , genetics , porphyria , family history , gene , myelodysplastic syndromes , exon , biology , mutation , medicine , cancer research , pathology , immunology , porphyrin , bone marrow , biochemistry
Erythropoletic Protoporphyria (EPP) is normally a disease of childhood that has an autosomal dominant inheritance pattern. The mean age of onset is 4 years and it is characterized by variable photosensitivity caused by a defect in the ferrocheletase gene, resulting in accumulation of protoporphyrin in skin and erythroid tissues. A 60 year‐old male with no prior history or family history of EPP developed burning, pruritis, diffuse erythema and edema in sun‐exposed areas. He had a known historv of Myelodysplastic Syndrome (MDS), and his symptoms began several years after the MDS was diagnosed. Hematologic analysis revealed increased plasma and red blood cell protoporphyrins. Urinary porphyrins were normal. As these results are indicative of EPP, genetic analysis was performed to detect a mutation of the ferrocheletase gene. Genomic DNA was extracted from whole blood and amplified with primers flanking the exons of the ferrocheletase gene. The DNA was examined for mutations by direct sequencing, which revealed no sequence alteration in the ferrocheletase gene. It was therefore concluded that the patient's MDS led to dysplastic growth of stem cells and subsequent inhibition of blood ferrocheletase. The interruption of porphyrin metabolism by hematologic malignancies is exceedingly rare but well documented, and MDS has been linked to other types of porphyria in the past. However, there is only one other case in the literature of EPP as a sequelae of MDS. This is the only documented case of EPP caused by MDS that has the benefit of mutational analysis of the ferrocheletase gene.