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.