Results 61 to 70 of about 27,170 (181)

Distribution of protoporphyrin IX in erythrocytes in a case of acquired erythropoietic protoporphyria

, 2022
Background: Erythropoietic protoporphyria (EPP) is a rare genetic photodermatosis caused by loss-of-function mutations in the gene for ferrochelatase leading to accumulation of the fluorescent protoporphyrin IX (PpIX) in erythrocytes.
Fontenete, Silvia, Heerfordt, Ida M., Lerche, Catharina M., Wulf, Hans Christian, Ida M. Heerfordt, Silvia Fontenete, Hans Christian Wulf, Catharina M. Lerche   +7 more
core   +1 more source

Photosensitivity and Acute Liver Insufficiency in Late-Onset Erythropoietic Protoporphyria with a Chromosome 18q Abnormality

Case Reports in Dermatology, 2012
Late-onset erythropoietic protoporphyria (EPP) is rare, and it is usually associated with an acquired somatic mutation of the ferrochelatase gene secondary to hematological malignancy such as myelodysplastic syndrome or myeloproliferative disorder.
Yuka Oshikawa, Satoshi Fukushima, Taiga Miyake, Takeshi Kawaguchi, Kenta Motomura, Yasuhiro Nakashima, Kenichi Nakamura, Masatoshi Jinnin, Hironobu Ihn   +8 more
doaj   +1 more source

Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria [PDF]

, 2022
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic photodermatoses. Limited expertise with these disorders among physicians leads to diagnostic delays.
Naik, Hetanshi, Hedstrom, Karli, Mazepa, Marshall, Balwani, Manisha, Levy, Cynthia, Raef, Haya, Wang, Bruce, Philpotts, Lisa Liang, Quigley, John, Elmariah, Sarina B., Thapar, Manish, Kazamel, Mohamed, Porphyrias Consortium of the Rare Diseases Clinical Research Network, Beaven, Simon W., Keel, Siobán B., Rudnick, Sean R., Dickey, Amy K., Goddu, Robert J., Leaf, Rebecca K., Saberi, Behnam, Erwin, Angelika L., Ungar, Jonathan, Elmariah, Sarina B, Leaf, Rebecca K, Goddu, Robert J, Rudnick, Sean R, Network, Porphyrias Consortium of the Rare Diseases Clinical Research, Beaven, Simon W, Erwin, Angelika L, Dickey, Amy K, Keel, Siobán B   +30 more
core   +1 more source

Recurrent hepatic flares after SARS-CoV-2 vaccination in a patient with erythropoietic protoporphyria: A case report

Rare
Erythropoietic protoporphyria (EPP) is a rare genetic disorder that can lead to liver complications in a subset of patients. We describe the case of a 36-year-old woman with genetically confirmed EPP who developed acute liver injury following the second ...
Francesca Granata, Simona Leoni, Valeria Di Stefano, Anna Ludovica Fracanzani, Giovanna Graziadei   +4 more
doaj   +1 more source

The interrelationship between ferrochelatase and protoporphyrinogen oxidase with particular reference to porphyria variegata and erythropoietic protoporphyria [PDF]

, 1986
This thesis was undertaken to determine if there is any interrelationship between the two terminal enzymes of the haem biosynthetic pathway, protoporphyrinogen oxidase (PPO) and ferrochelatase, with particular reference to porphyria variegata (PV) and ...
Siepker, Lydia, Johanna
core  

Neuropathy in erythropoietic protoporphyrias

, 1998
Peripheral neuropathy (PN) has rarely been described as a complication of erythropoietic protoporphyria (EPP). We describe three episodes of PN and the electrophysiologic findings in two patients with EPP.
Muley, S. A., Midani, H. A., Carithers, R., Rank, J. M., Parry, Gareth J.   +4 more
core   +1 more source

Psychological Aspect and Quality of Life in Porphyrias: A Review

Diagnostics, 2022
The World Health Organization (WHO) describes “health” as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity.
Granata Francesca, Annamaria Nicolli, Alessia Colaiocco, Elena Di Pierro, Giovanna Graziadei   +4 more
doaj   +1 more source

Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment

The Journal of Dermatology, Volume 53, Issue 6, Page 930-933, June 2026.
ABSTRACT A 50‐year‐old female patient was referred to our department for consultation regarding perioperative management of breast cancer surgery. She had a history of photosensitivity since childhood and was diagnosed with erythropoietic protoporphyria (EPP) during her first pregnancy.
Fumika Tateishi, Naoya Murayama, Ruri Nakamuta, Masahisa Watanabe, Aya Tanaka, Hiroyuki Murota   +5 more
wiley   +1 more source

Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort

Life
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity.
Rebecca K. Leaf, Hetanshi Naik, Paul Y. Jiang, Sarina B. Elmariah, Pamela Hodges, Jennifer Mead, John Trinidad, Behnam Saberi, Benny Tran, Sarah Valiante, Francesca Mernick, David E. Leaf, Karl E. Anderson, Amy K. Dickey   +13 more
doaj   +1 more source

5-Aminolevulinic acid: A matter of life and caveats

Journal of Photochemistry and Photobiology, 2021
Our mini-review concerns the potential adverse pro-oxidant role of 5-aminolevulinic (ALA), the first protoporphyrin IX (PP-IX)/heme precursor widely used in commercial formulations for endogenous photodynamic therapy (PDT).
Etelvino J.H. Bechara, Luiz D. Ramos, Cassius V. Stevani   +2 more
doaj   +1 more source