RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164069217
T1 Erythropoietic Protoporphyria
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164069217
RD 2024/04/19
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.