Results 41 to 50 of about 601 (148)

Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report

SAGE Open Medical Case Reports, 2018
Erythropoietic protoporphyria (EPP) is a genetically inherited disease that causes protoporphyrin accumulation in erythrocytes, skin, liver, bile, and stool. Clinically this manifests as photosensitivity with painful, edematous cutaneous porphyria.
James Kiberd, Laura Finlayson
doaj   +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

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

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

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

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

Collaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT The Rare Diseases Clinical Research Network (RDCRN) was established to improve diagnosis, treatment, and research collaboration across rare diseases through collaborative, multi‐site, translational, and clinical research. Its governance framework promotes efficient data sharing and collaboration among research consortia, NIH representatives ...
Mirna Chehade, Sheridan Meyers, Talaya McCright‐Gill, Rogerwene Gifford, Mustafa Sahin, Michael E. Shy, Michele Manion, Dakota Campbell, Marc E. Rothenberg, Maurizio Macaluso   +9 more
wiley   +1 more source

Development and content validation of a sunlight exposure diary in patients with erythropoietic protoporphyria

Journal of Patient-Reported Outcomes, 2023
Background Erythropoietic protoporphyria is a rare, inherited disorder presenting in early childhood with severe, painful phototoxicity. EPP has significant impacts on health-related quality of life, though there is variable disease severity.
Susan D. Mathias, Laurie Burke, Hilary H. Colwell, George Mensing, Will Savage, Hetanshi Naik   +5 more
doaj   +1 more source

Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria

Life, 2023
In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX).
Anna-Elisabeth Minder, Xiaoye Schneider-Yin, Henryk Zulewski, Christoph E. Minder, Elisabeth I. Minder   +4 more
doaj   +1 more source

Visible Light‐Induced Pigmentation: Improved In Vivo Methodology for Measuring Efficacy of 30 Products in 9 Randomised Controlled Trials and Correlation With In Vitro Assessment

Experimental Dermatology, Volume 34, Issue 9, September 2025.
ABSTRACT As hyperpigmentation can worsen with exposure to ultraviolet (UV) and visible light (VL), sunscreens with well‐balanced UVB/UVA protection and VL‐blocking pigments are recommended. Assessing efficiency against VL‐induced pigmentation is then mandatory.
Pascale Renoux, Hussein Jouni, Clément Laloux, Rita Touti, Diane‐Lore Vieu, François Lamarche, Silvia Morim Santos, Françoise Bernerd, Claire Marionnet   +8 more
wiley   +1 more source