Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene

Hiromi Suzuki, Katsuko Kikuchi, Noriko Fukuhara, Hajime Nakano, Setsuya Aiba

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)651-655
Number of pages5
JournalJournal of Dermatology
Volume44
Issue number6
DOIs
Publication statusPublished - 2017 Jun

Keywords

  • erythropoietic protoporphyria
  • ferrochelatase
  • homozygous IVS3-48C polymorphism
  • myelodysplastic syndrome
  • photosensitivity

ASJC Scopus subject areas

  • Dermatology

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