Results 41 to 50 of about 1,952 (187)

Photodermatoses in Children [PDF]

JDVI (Journal of General Procedural Dermatology & Venereology Indonesia), 2017
Photodermatoses cover the skin’s abnormal reactions to sunlight, usually to its ultraviolet (UV) component or visible light. Etiologically, photodermatoses can be classified into 4 categories: (1) immunologically mediated photodermatoses (idiopathic ...
Siti Nurani Fauziah, Wresti Indriatmi, Lili Legiawati   +2 more
doaj   +1 more source

Erythropoietic protoporphyria in pregnancy

Journal of Obstetrics and Gynaecology, 2020
Erythropoietic protoporphyria (EPP) is a rare, genetic condition causing painful, non-blistering photosensitivity, usually without scarring and typically presents in childhood (Ramanujam and Anders...
Elizabeth G, Nevins, Ajith, Wijesiriwardana   +1 more
openaire   +2 more sources

An overview of the cutaneous porphyrias [version 1; referees: 2 approved]

F1000Research, 2017
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj   +1 more source

Current trials in erythropoietic protoporphyria: are placebo controls ethical?

Orphanet Journal of Rare Diseases, 2023
A new active substance called “dersimelagon” (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment, dersimelagon is being tested both in the US and in Europe in a phase III placebo-controlled ...
Jasmin Barman-Aksözen, Mattia Andreoletti, Alessandro Blasimme   +2 more
doaj   +1 more source

A Case of Erythropoietic Protoporphyria [PDF]

Baylor University Medical Center Proceedings, 2016
A 53-year-old Texas rancher developed a blistering skin rash that was sensitive to exposure to sunlight. He was referred to hematology with a presumptive diagnosis of porphyria. His peripheral blood counts were within normal limits, and a bone marrow examination revealed erythroid dyspoiesis and ringed sideroblasts.
Kathryn, Lindsey, Micah, Burch, John R, Krause   +2 more
openaire   +2 more sources

The diagnosis and management of porphyria cutanea tarda (PCT)

South African Family Practice, 2009
The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj   +1 more source

Haematological parameters in erythropoietic protoporphyria: A multi-national study. [PDF]

Br J Haematol
: Erythropoietic protoporphyria (EPP) is a disorder of haem biosynthesis characterized by a reduction in ferrochelatase and subsequent accumulation of protoporphyrin IX.
Leaf RK, Ricci A, Tran B, Corradini E, Pietrangelo A, Mancini C, Garuti C, Saltini D, Schepis F, Kubisch I, Wohmann N, Stölzel U, Jiang PY, Jang S, Bensaber N, Rebeiz L, Wang C, Buzney E, Trinidad J, Anderson KE, Wahlin S, Ventura P, Dickey AK.   +22 more
europepmc   +2 more sources

The role of allogeneic stem cell transplantation in severe erythropoietic protoporphyria in adults and young adults: timing and modalities [PDF]

Hematology, Transfusion and Cell Therapy
Camilla Frieri, Antoine Poli, Marie Balsat, Flore Sicre de Fontbrune   +3 more
doaj   +2 more sources

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 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, Elmariah, Sammy, Leaf, Rebecca, Balwani, Manisha, Levy, Cynthia, Raef, Haya, Wang, Bruce, Beaven, Simon, Philpotts, Lisa Liang, Quigley, John, Elmariah, Sarina B., Thapar, Manish, Erwin, Angelika, Goddu, Robert, Kazamel, Mohamed, Dickey, Amy, Porphyrias Consortium of the Rare Diseases Clinical Research Network, Philpotts, Lisa, Beaven, Simon W., Keel, Siobán B., Rudnick, Sean R., Dickey, Amy K., Goddu, Robert J., Leaf, Rebecca K., Saberi, Behnam, Rudnick, Sean, Erwin, Angelika L., Ungar, Jonathan, Keel, Siobán   +30 more
core   +1 more source