TY - CHAP M1 - Book, Section TI - Erythropoietic Protoporphyria A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - This is a rare genetically transmitted disorder characterized by an onset during childhood, between the age of 3 and 6. Affected individuals present with acute photosensitivity of the skin, where within few minutes of exposure to the sun, a severe pruritus, erythema, swelling, and pain are manifested. Longer periods of sun exposure can produce similar skin reaction as second-degree burn. After repetitive sun exposure, lichenification, hypopigmentation, hyperpigmentation, and scarring of the skin is usually observed. The severity of the symptoms and the pain (which can be very intense) can vary considerably amongst patients. It is the result of accumulation of protoporphyrins (porphyrin-heme) in erythrocytes, plasma, skin, and liver due to a reduction in the enzymatic activity of ferrochelatase. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164069217 ER -