Results 51 to 60 of about 11,286 (212)

Acute porphyrias – A neurological perspective

Brain and Behavior, 2021
Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer, Franziska Scheibe, Astrid Nümann, Martin Köhnlein, Ulrich Stölzel, Andreas Meisel   +5 more
doaj   +1 more source

Sun Protection Advice for the South African Population for the Prevention and Management of Skin Diseases

International Journal of Dermatology, Volume 65, Issue 1, Page 57-68, January 2026.
ABSTRACT Sun protection is critical for the prevention and management of skin cancer and other photosensitive dermatoses in South Africa's diverse population. This review expands on previously published sun protection advice for skin cancer prevention by providing tailored advice for individuals with specific dermatological conditions.
Thuraya Isaacs, Tarryn Jacobs, Dagmar Whitaker, Willem Visser, Kim Wiid, Ncoza C. Dlova, Caradee Y. Wright, Bianca Tod   +7 more
wiley   +1 more source

Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias

Molecular Genetics and Metabolism Reports, 2022
Elagolix is an FDA-approved treatment for moderate-to-severe pain associated with endometriosis but has been associated with increased acute porphyric attacks in women with the acute hepatic porphyrias (AHPs).
Christopher D. Ma, Herbert L. Bonkovsky
doaj   +1 more source

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report

Skin Health and Disease
Congenital erythropoietic porphyria (CEP), or Gunther disease, is a rare genetic disease responsible for severe dermatologic, hepatic and/or haematological damages related to the deficient activity of the uroporphyrinogen III synthase.
Pierre Peterlin, Julia Bonnelye, Alice Garnier, Amandine Le Bourgeois, Thierry Guillaume, Maxime Jullien, Hervé Dutartre, Marie Le Moigne, Caroline Schmitt, Laurent Gouya, Antoine Poli, Sebastien Barbarot, Patrice Chevallier   +12 more
doaj   +1 more source

Congenital erythropoietic porphyria: Two case reports

Indian Journal of Dermatology, 2011
Porphyrias form a group of disorders caused due to defects in the haem synthetic pathway. Congenital erythropoietic porphyia (CEP) is the rarest of the bullous porphyrias (less than 200 cases have been reported till recent times) and a clinician may not ...
Sankha Koley, Vikrant Saoji
doaj   +1 more source

Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C [PDF]

Anais Brasileiros de Dermatologia, 2019
: A 63-year-old black female patient with blisters and exulcerations on the face, neck, upper limbs, and subsequent evolution with hypochromic sclerotic areas and alopecia, is reported.
Juliana de Oliveira Alves Calado, Luan Moura Hortencio Bastos, Hélio Amante Miot   +2 more
doaj   +1 more source

5‐Aminolevulinic Acid–Based Photodynamic Therapy (ALA‐PDT) for Bowen’s Disease in Chinese Patients: A Multicenter Prospective Study

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Background In China, the common treatment for Bowen’s disease (BD) is surgical excision. Although 5‐aminolevulinic acid–based photodynamic therapy (ALA‐PDT) has proven effective for BD in Caucasian patients, there is limited research on its effectiveness in Asian patients.
Menglong Ran, Yang Tang, Wenyu Wu, Miaojian Wan, Liang Zhang, Jianglin Zhang, Siliang Xue, Hang Li, Yun-Sheng Liang   +8 more
wiley   +1 more source

UK experience of liver transplantation for erythropoietic protoporphyria [PDF]

, 2011
Erythropoietic protoporphyria (EPP) is characterised by excess production of free protoporphyrin from the bone marrow, most commonly due to deficiency of the enzyme ferrochelatase.
A Dobozy, A Fontanellas, A Herbert, AK Seth, AV Anstey, BM McGuire, Briget K. Gunson, D Samuel, DA Spiva, Darius F. Mirza, DJ Todd, DL Avner, DL Avner, EB Rand, ES Dellon, GH Elder, HJ Wijk van, J Neuberger, JH Meulen van der, JH Reichheld, Joanna K. Dowman, KD Do, KO Morton, L Meerman, MI Leonardi, Mike N. Badminton, MO Doss, Philip N. Newsome, QG Eichbaum, RB Freeman Jr, S Wahlin, S Wahlin, SA Holme, SD Whatley, TH Welling   +34 more
core   +3 more sources

Long-term iron supplementation in four patients with X-linked erythropoietic protoporphyria: associations with serum proteins and erythrocyte protoporphyrin levels—a single-centre retrospective study

Frontiers in Molecular Biosciences
IntroductionX-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the
Anna-Elisabeth Minder, Anna-Elisabeth Minder, Francesca Granata, Franziska van Breemen, Franziska van Breemen, Xiaoye Schneider-Yin, Xiaoye Schneider-Yin, Elisabeth I. Minder, Elisabeth I. Minder, Lanja Saleh, Lanja Saleh, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen   +14 more
doaj   +1 more source