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Case of late‐onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS 3‐48C polymorphism in the ferrochelatase gene
Author(s) -
Suzuki Hiromi,
Kikuchi Katsuko,
Fukuhara Noriko,
Nakano Hajime,
Aiba Setsuya
Publication year - 2017
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.13709
Subject(s) - erythropoietic protoporphyria , ferrochelatase , pathology , myelodysplastic syndromes , erythema , germline mutation , medicine , biology , genetics , immunology , protoporphyrin , mutation , gene , heme , biochemistry , porphyrin , enzyme , bone marrow
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 IVS 3‐48C polymorphism that is a low‐expression variant of wild‐type ferrochelatase allele.