Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria.

Authors: Mickevicius, Tomas¹ (AUTHOR) tomas.mickevicius94@outlook.com, Holtmann, Christoph¹ (AUTHOR), Draganov, Jutta² (AUTHOR), Prues-Hoelscher, Jennifer¹ (AUTHOR), Geerling, Gerd¹ (AUTHOR), Borrelli, Maria¹ (AUTHOR)

Source: Orbit. Jun2024, Vol. 43 Issue 3, p392-398. 7p.

Subject Terms: *ERYTHROPOIETIC porphyria, *CORNEA injuries, *LAGOPHTHALMOS, *IRIS (Eye), *BONE marrow, *IMMUNE reconstitution inflammatory syndrome, *IRIS (Eye) diseases

Congenital Erythropoietic Porphyria: Mild and Severe Form in Two Brothers.

Authors: Badabagni, Purnachandra¹, Birudala, Ramadevi² ramambbs07@gmail.com

Source: Indian Journal of Paediatric Dermatology. Apr-Jun2024, Vol. 25 Issue 2, p121-124. 4p.

Subject Terms: *ERYTHROPOIETIC porphyria, *HEMOLYTIC anemia, *ENZYME deficiency, *CONSANGUINITY, *METABOLIC disorders

Afamelanotide in protoporphyria and other skin diseases: a review.

Authors: Polańska, Adriana¹ apolanska@ump.edu.pl, Wegner, Joanna², Nutbohm, Paula², Staubach, Petra², Żaba, Ryszard¹, Dańczak-Pazdrowska, Aleksandra¹, Jenerowicz, Dorota¹

Source: Advances in Dermatology & Allergology / Postępy Dermatologii i Alergologii. Apr2024, Vol. 41 Issue 2, p149-154. 6p.

Subject Terms: *MELANOCORTIN receptors, *ERYTHROPOIETIC porphyria, *SKIN disease treatment, *DERMATOLOGY, *PATIENT care

Scavenger endothelial cells alleviate tissue damage by engulfing toxic molecules derived from hemolysis.

Authors: Yimei Dai^1,2, Yunyun Jiang², Canran Cao², Yongtai Xu², Siting Lai², Wenchao Zhu^3,4,5, Meng Gao^3,4,5, Feifei Li² liff@scut.edu.cn, Sicong He⁶ hesc@sustech.edu.cn, Jin Xu^1,2 xujin@scut.edu.cn

Source: Proceedings of the National Academy of Sciences of the United States of America. 2/18/2025, Vol. 122 Issue 7, p1-10. 25p.

Subject Terms: *SCAVENGER receptors (Biochemistry), *ERYTHROPOIETIC porphyria, *ENDOTHELIAL cells, *HEMOLYSIS & hemolysins, *LIVER cells

Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.

Authors: Tumminelli, Cristina¹ (AUTHOR), Burlo, Francesca¹ (AUTHOR), Pastore, Serena² (AUTHOR) serena.pastore@burlo.trieste.it, Severini, Giovanni Maria³ (AUTHOR), Berti, Irene² (AUTHOR), Marchini, Stefano⁴ (AUTHOR), Zanon, Davide⁵ (AUTHOR), De Martino, Eleonora² (AUTHOR), Tommasini, Alberto^1,2 (AUTHOR)

Source: Italian Journal of Pediatrics. 11/23/2023, Vol. 49 Issue 1, p1-5. 5p.

Subject Terms: *THERAPEUTIC use of vitamin D, *ERYTHROPOIETIC porphyria, *PHOTOSENSITIVITY disorders, *CIMETIDINE, *SUNSHINE, *PEDIATRICS, *GENETIC testing, *TREATMENT effectiveness, *CAROTENOIDS, *DIETARY supplements, *QUALITY of life, *BILE acids, *BLOOD testing, *ENVIRONMENTAL exposure, *SYMPTOMS

Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.

Authors: Khan, Javeriah¹ (AUTHOR), Hashmi, Muhammad Usman² (AUTHOR), Noor, Nabeeha³ (AUTHOR), Khan, Ahmad Jamal⁴ (AUTHOR), Shrateh, Oadi N.⁵ (AUTHOR) oadi.shrateh@students.alquds.edu, Tahir, Muhammad Junaid⁶ (AUTHOR)

Source: Journal of Medical Case Reports. 11/14/2023, Vol. 17 Issue 1, p1-6. 6p.

Subject Terms: *ERYTHROPOIETIC porphyria, *MEDICAL personnel, *NOSEBLEED, *ASIANS, *SYMPTOMS, *PULMONARY alveolar proteinosis, *HEREDITARY hemorrhagic telangiectasia

Congenital Erythropoietic Porphyria: A Case of Hepatic Failure and Angioedema Following Ferrous Sulfate Supplementation.

Authors: Jorgaqi, Etleva¹ (AUTHOR), Ezenne, Karen² (AUTHOR), Brown, Madeline³ (AUTHOR), Zhou, Albert E.⁴ (AUTHOR), Khachemoune, Amor⁵ (AUTHOR) amorkh@gmail.com

Source: Pediatric Dermatology. Jan2025, Vol. 42 Issue 1, p166-169. 4p.

Subject Terms: *ERYTHROPOIETIC porphyria, *LIVER failure, *ANGIONEUROTIC edema, *ANEMIA, *METHYLPREDNISOLONE, *RED blood cell transfusion, *FERROUS sulfate

From chemistry to genomics: A concise history of the porphyrias.

Authors: Badminton, Michael N.¹ (AUTHOR) mike.badminton@icloud.com, Anderson, Karl E.² (AUTHOR) kanderso@utmb.edu, Deybach, Jean‐Charles³ (AUTHOR), Harper, Pauline⁴ (AUTHOR), Sandberg, Sverre^4,5,6,7 (AUTHOR), Elder, George H.¹ (AUTHOR)

Source: Liver International. Sep2024, Vol. 44 Issue 9, p2144-2155. 12p.

Subject Terms: *ERYTHROPOIETIC porphyria, *HEME, *HEMATOPORPHYRIN, *HEMIN, *PORPHYRIA

A Severe Reaction After Phototherapy in a Neonate With X-Linked Protoporphyria.

Authors: Sandgren, Jeremy A.¹ jeremy-sandgren@uiowa.edu, Moon Ley Tung², Berrebi, Kristen G.³, Saade, Dimah N.⁴, Bermick, Jennifer R.¹, Lee, Stephanie S.¹, Stanford, Amy H.¹

Source: Pediatrics. Aug2024, Vol. 154 Issue 2, p1-4. 4p.

Subject Terms: *PNEUMONIA, *ERYTHROPOIETIC porphyria, *ERYTHEMA, *ACUTE diseases, *PHOTOSENSITIVITY disorders, *SKIN diseases, *RESPIRATORY insufficiency, *MAGNETIC resonance imaging, *TREATMENT effectiveness, *PHOTOTHERAPY, *HOSPITAL care of newborn infants, *MUSCLE hypotonia, *INTRAVENOUS therapy, *INFANT nutrition, *NOSOCOMIAL infections, *ARTIFICIAL respiration, *GENETIC disorders, *LIVER failure, *PORPHYRINS, *DISEASE complications, *CHILDREN

Congenital erythropoietic porphyria.

Authors: To‐Figueras, Jordi¹ (AUTHOR) jto@clinic.cat, Erwin, Angelika L.² (AUTHOR) angelika.erwin@gmail.com, Aguilera, Paula³ (AUTHOR), Millet, Oscar⁴ (AUTHOR), Desnick, Robert J.⁵ (AUTHOR)

Source: Liver International. Aug2024, Vol. 44 Issue 8, p1842-1855. 14p.

Subject Terms: *ERYTHROPOIETIC porphyria, *HYDROPS fetalis, *SYMPTOMS, *BIOSYNTHESIS, *HEME, *GENETIC variation

Bullous lesions following phototherapy in a newborn.

Authors: Toscano, Marina Moura¹, Fernandes Cintra, Flavia¹, Oliveira Resende, Ludmila², Casteleti, Paula², Arruda Moraes, Lucas Hirano¹, da Matta Rivitti-Machado, Maria Cecilia², Nico, Marcello Menta Simonsen², Del Bigio, Juliana Zoboli¹ juliana.zoboli@hc.fm.usp.br, de Carvalho, Werther Brunow¹

Source: Einstein (16794508). 2023, Vol. 21, p1-4. 4p.

Subject Terms: *ERYTHROPOIETIC porphyria, *PHOTOTHERAPY, *BLISTERS, *NEONATAL diseases, *SKIN diseases, *FLUORESCENCE spectroscopy, *HEMOCHROMATOSIS, *BLOOD sampling, *ULTRAVIOLET radiation

Twelve-year follow-up of bone marrow transplantation in congenital erythropoietic porphyria: lessons learned from a challenging case.

Authors: Díaz-Calvillo, Pablo^1,2 (AUTHOR) pdc.muro@gmail.com, Rodríguez-Pozo, Juan Ángel^1,2 (AUTHOR), Martínez-López, Antonio^1,2 (AUTHOR), Aguilera-Peiró, Paula³ (AUTHOR), Díaz-de-Heredia, Cristina⁴ (AUTHOR), Arias-Santiago, Salvador^5,6,7 (AUTHOR), Tercedor-Sánchez, Jesus^1,2 (AUTHOR)

Source: Clinical & Experimental Dermatology. Oct2023, Vol. 48 Issue 10, p1187-1189. 3p. 1 Color Photograph, 1 Chart, 1 Graph.

Subject Terms: *ERYTHROPOIETIC porphyria, *BONE marrow transplantation

Ocular protection in congenital erythropoietic porphyria: A potential role for gaming glasses.

Authors: Fityan, A.^1,2 (AUTHOR) af999@doctors.org.uk, Aneju, G. A.³ (AUTHOR), Morley, A. M. S.⁴ (AUTHOR), Sarkany, R.² (AUTHOR)

Source: Photodermatology, Photoimmunology & Photomedicine. Sep2023, Vol. 39 Issue 5, p535-537. 3p.

Subject Terms: *ERYTHROPOIETIC porphyria, *LENSES, *BLUE, *PROTECTIVE eyeglasses

Correction: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.

Authors: Tumminelli, Cristina¹ (AUTHOR), Burlo, Francesca¹ (AUTHOR), Pastore, Serena² (AUTHOR) serena.pastore@burlo.trieste.it, Severini, Giovanni Maria³ (AUTHOR), Berti, Irene² (AUTHOR), Marchini, Stefano⁴ (AUTHOR), Zanon, Davide⁵ (AUTHOR), De Martino, Eleonora² (AUTHOR), Tommasini, Alberto^1,2 (AUTHOR)

Source: Italian Journal of Pediatrics. 12/15/2024, Vol. 50 Issue 1, p1-1. 1p.

Subject Terms: *ERYTHROPOIETIC porphyria, *BLOOD testing, *PEDIATRICS, *SYMPTOMS

Role of phlebotomy in the treatment of liver damage related to erythropoietic porphyria.

Authors: Hagiwara, Satoru¹ (AUTHOR), Nishida, Naoshi¹ (AUTHOR) naoshi@med.kindai.ac.jp, Ida, Hiroshi¹ (AUTHOR), Ueshima, Kazuomi¹ (AUTHOR), Minami, Yasunori¹ (AUTHOR), Takita, Masahiro¹ (AUTHOR), Aoki, Tomoko¹ (AUTHOR), Morita, Masahiro¹ (AUTHOR), Chishina, Hirokazu¹ (AUTHOR), Komeda, Yoriaki¹ (AUTHOR), Yoshida, Akihiro¹ (AUTHOR), Park, Ah-Mee² (AUTHOR), Sato, Masako³ (AUTHOR), Kawada, Akira³ (AUTHOR), Nakano, Hajime⁴ (AUTHOR), Nakagawa, Hiroshi⁵ (AUTHOR), Kudo, Masatoshi¹ (AUTHOR)

Source: Scientific Reports. 4/12/2022, Vol. 12 Issue 1, p1-8. 8p.

Subject Terms: *ERYTHROPOIETIC porphyria, *ERYTHROPOIETIC protoporphyria, *PHLEBOTOMY, *EOSIN, *LIVER biopsy

Acquired erythropoietic uroporphyria secondary to myeloid malignancy: A case report and literature review.

Authors: Serra‐García, Laura¹ (AUTHOR), Morgado‐Carrasco, Daniel¹ (AUTHOR), Pérez‐Valencia, Amanda Isabel² (AUTHOR), Castaño‐Díez, Sandra² (AUTHOR), Alamon‐Reig, Francesc¹ (AUTHOR), Badenas, Cèlia³ (AUTHOR), To‐Figueras, Jordi³ (AUTHOR), Aguilera, Paula¹ (AUTHOR) paguile@clinic.cat

Source: Photodermatology, Photoimmunology & Photomedicine. Jan2022, Vol. 38 Issue 1, p86-91. 6p.

Subject Terms: *ERYTHROPOIETIC porphyria, *BONE marrow cells, *MIDDLE-aged men, *ERYTHROPOIETIC protoporphyria

Argumentación científica escolar y su contribución al aprendizaje del tema «salud y enfermedad».

Alternate Title: School scientific argumentation and its contribution to learning the topic «health and disease».

Authors: Revel Chion, Andrea¹ andrearevekhion@gmail.com, Díaz Guevara, Carlos A.¹ carlosalberto.diazguevara@yahoo.es, Adúriz-Bravo, Agustín² aadurizbravo@cefiec.fcen.uba.ar

Source: Revista Eureka sobre Enseñanza y Divulgación de las Ciencias. sep2021, Vol. 18 Issue 3, p1-20. 20p.

Subject Terms: *ERYTHROPOIETIC porphyria, *SCIENCE education, *CONCEPT learning, *CONGENITAL disorders, *STUDENT health

Congenital erythropoietic porphyria five years observation with standard treatment: a case report.

Authors: Kamalyan, Marine¹ (AUTHOR) marinakamalyan@gmail.com, Mohammadi, Mohammadmahdi¹ (AUTHOR)

Source: Oxford Medical Case Reports. Jan2024, Vol. 2024 Issue 1, p1-4. 4p.

Subject Terms: *ERYTHROPOIETIC porphyria, *HEMATOPOIETIC stem cells, *ENZYME deficiency, *STEM cell transplantation, *SYMPTOMS, *ALOPECIA areata

Geographic Terms: ARMENIA

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria

Authors: Ning Jia, Yusupu Yimin, Ming Li, Long Jiang, Yeqiang Liu

Source: Frontiers in Genetics, Vol 16 (2025)

Subject Terms: uroporphyrinogen III synthase, uroporphyrinogen I, mutation detection, erythropoietic porphyria, Sanger sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2025.1486595/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/088eeaed980a433588de46fb76cbcf24

Cardiopulmonary bypass in a child with erythropoietic protoporphyria.

Authors: Pathman, Lydia¹ (AUTHOR) Lydia.pathmanathan@rch.org.au, Bennett, Martin¹ (AUTHOR), d'Udekem, Yves^1,2 (AUTHOR), Phillips, Roderic^1,3,4 (AUTHOR)

Source: Australasian Journal of Dermatology. Feb2022, Vol. 63 Issue 1, pe60-e62. 3p. 1 Color Photograph.

Subject Terms: *ERYTHROPOIETIC protoporphyria, *ERYTHROPOIETIC porphyria, *BLOOD transfusion, *CARDIAC surgery, *PHOTOSENSITIVITY, *CARDIOPULMONARY bypass