A case of erythropoietic protoporphyria.

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

EPP: erythropoietic protoporphyria FECH: ferrochelatase iEPP: incomplete erythropoietic protoporphyria PP: protoporphyrin INTRODUCTION Erythropoietic protoporphyria (EPP) is an inherited cutaneous porphyria caused by a decreased activity of the enzyme ferrochelatase (FECH). EPP patients are clinically characterized by painful photosensitivity of the skin, with some exhibiting liver failure. The...

[A case of erythropoietic protoporphyria with neural and abdominal symptoms].

Bovine congenital erythropoietic protoporphyria in a crossbred limousin heifer in Ireland

An unusual case of an 11-month-old, black Limousin-cross heifer, with an 8-month history of episodic seizures and photosensitisation, was referred by a veterinary practitioner to the Farm Animal Section of the UCD Veterinary Hospital, School of Veterinary Medicine, University College Dublin, Ireland, in August 2014. Following an investigation, a diagnosis of Bovine Congenital Erythropoietic Pro...

'Erythropoietic' protoporphyria and cirrhosis in sisters.

The clinical and histopathological features of two sisters with erythropoietic protoporphyria and liver disease are described. They had unusually severe photosensitivity with blistering, and both died at the age of 31 from cirrhosis. The association of erythropoietic protoporphyria with several hepatic abnormalities is discussed.

Iron in erythropoietic protoporphyrias: Dr. Jekyll or Mr. Hyde?

Erythropoietic protoporphyria consists of two different genetic diseases, erythropoietic protoporphyria (EPP) and X-linked erythropoietic protoporphyria (XLEPP). Both of them are often accompanied by iron deficiency. Iron supplementation appears to be beneficial in XLEPP, although the clinical experience until to date is limited. In EPP, iron supplementation is discussed ambiguously and may cau...

A case of erythropoietic protoporphyria.

A 53-year-old Texas rancher developed a blistering skin rash that was sensitive to exposure to sunlight. He was referred to hematology with a presumptive diagnosis of porphyria. His peripheral blood counts were within normal limits, and a bone marrow examination revealed erythroid dyspoiesis and ringed sideroblasts. Serum, plasma, and erythrocyte protoporphyrin levels were elevated, the finding...