title: Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene.
abstract: We report the case of a 42-year-old man with a 5-year history of myelodysplastic syndrome and photosensitivity who had developed painful erythema and blisters on sun-exposed sites. Histological examination of a mildly lichenified lesion on the dorsal finger revealed extensive deposits of a hyaline-like, periodic acid-Schiff-positive material around superficial dermal blood vessels. Laboratory tests showed elevated erythrocyte protoporphyrin and normal urinary porphyrins, suggesting a diagnosis of erythropoietic protoporphyria. Late-onset erythropoietic protoporphyria is rare and is usually associated with an acquired somatic mutation of the ferrochelatase gene secondary to a hematological malignancy such as myelodysplastic syndrome. DNA analysis revealed that our patient has the homozygous IVS3-48C polymorphism that is a low-expression variant of wild-type ferrochelatase allele.
authors.affiliation: Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors.forename: Hiromi
authors.initials: H
authors.lastname: Suzuki
authors.affiliation: Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors.forename: Katsuko
authors.initials: K
authors.lastname: Kikuchi
authors.affiliation: Department of Hematology and Immunology, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Fukuhara
authors.affiliation: Department of Dermatology, Hirosaki University School of Medicine, Hirosaki, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.affiliation: Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors.forename: Setsuya
authors.initials: S
authors.lastname: Aiba
mesh_terms: D000328:Adult; D017668:Age of Onset; D005294:Ferrochelatase / Q000235:genetics*; D006801:Humans; D008297:Male; D009190:Myelodysplastic Syndromes / Q000150:complications*; D010787:Photosensitivity Disorders / Q000209:etiology*; D046351:Protoporphyria, Erythropoietic / Q000150:complications / Q000235:genetics*
chemical_list: D005294:Ferrochelatase
keywords: erythropoietic protoporphyria; ferrochelatase; homozygous IVS3-48C polymorphism; myelodysplastic syndrome; photosensitivity