erythropoietic protoporphyria(redirected from Ferrochelatase deficiency)
erythropoietic protoporphyria (EPP) an autosomal dominant disorder, a form of erythropoietic porphyria, characterized by increased levels of protoporphyrin in the erythrocytes, plasma, liver, and feces and a wide variety of photosensitive skin changes, ranging from a burning or pruritic sensation to erythema, plaquelike edema, and wheals.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
a benign disorder of porphyrin metabolism due to a deficiency of ferrochelatase associated with enhanced fecal excretion of protoporphyrin, red-purple urine, and increased protoporphyrin IX in red blood cells, plasma, and feces; characterized by acute solar urticaria or more chronic solar eczema develops quickly on exposure to sunlight; autosomal dominant inheritance.
Farlex Partner Medical Dictionary © Farlex 2012
e·ryth·ro·poi·et·ic pro·to·por·phy·ria(ĕ-rith'rō-poy-et'ik prō'tō-pōr-fir'ē-ă)
A benign disorder of porphyrin metabolism due to a deficiency of ferrochelatase and characterized by enhanced fecal excretion of protoporphyrin and increased protoporphyrin IX in red blood cells, plasma, and feces; solar urticaria or eczema develops on exposure to sunlight.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
erythropoietic protoporphyriaA dominant genetic disease caused by a deficiency of the enzyme ferrochelatase that leads to the accumulation of protoporphyrin in the red blood cells. This causes skin hypersensitivity to light with tissue damage from oxygen free radicals causing a red crusted rash. About one sufferer in 20 develops liver failure for which the only resource is transplant. Although the condition is dominant, penetrance is incomplete and the inheritance more closely resembles that of a recessive trait.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005