Results 51 to 60 of about 3,279 (202)

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

Porphyrias at a glance : diagnosis and treatment

, 2010
Porphyrias are a group of eight rare inherited metabolic disorders of heme biosynthesis pathway. Porphyrias are still underdiagnosed, although examinations of urine and plasma are first-line tests for detecting excess of porphyrins or heme precursors in ...
Valentina Brancaleoni, Maria Domenica Cappellini, Giovanna Graziadei, Elena Di Pierro, E. Di Pierro, V. Brancaleoni, Dario Tavazzi, D. Tavazzi, M. D. Cappellini, G. Graziadei   +9 more
core   +1 more source

Differential Effects of Dupilumab in a Patient With Localized Heat Urticaria, Delayed Solar Urticaria, and Symptomatic Dermographism

The Journal of Dermatology, Volume 53, Issue 10, Page 1525-1528, October 2026.
ABSTRACT Physical urticaria is a subtype of chronic inducible urticaria characterized by wheals and/or angioedema triggered by physical stimuli. We report a refractory case of combined localized heat urticaria, delayed solar urticaria, and symptomatic dermographism in a 16‐year‐old girl.
Shuta Yoshitani, Shinichi Moriwaki, Atsushi Fukunaga   +2 more
wiley   +1 more source

Phenotyping acute Porphyrias

Acute hepatic porphyrias are rare metabolic disorders caused by disruptions in heme synthesis, an essential component of hemoglobin. The most common form is acute intermittent porphyria (AIP), resulting from a genetic defect in the HMBS gene.
Neeleman, Rochus
core   +8 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

Circadian Genes Expression Patterns in Disorders Due to Enzyme Deficiencies in the Heme Biosynthetic Pathway

Biomedicines, 2022
Heme is a member of the porphyrins family of cyclic tetrapyrroles and influences various cell processes and signalling pathways. Enzyme deficiencies in the heme biosynthetic pathway provoke rare human inherited metabolic diseases called porphyrias ...
Maria Savino, Claudio Carmine Guida, Maria Nardella, Emanuele Murgo, Bartolomeo Augello, Giuseppe Merla, Salvatore De Cosmo, Antonio Fernando Savino, Roberto Tarquini, Francesco Cei, Filippo Aucella, Gianluigi Mazzoccoli   +11 more
doaj   +1 more source

Abortion—A brief description of the evolution of methods

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1898-1903, October 2026.
Termination of pregnancy is not a “modern” societal issue, but one that has been afforded to women, albeit with varying degrees of success, over many centuries. Methods have evolved which have increased the availability, effectiveness, and safety of abortion, while substantially reducing associated morbidity.
Laura Slade, Andrea Deussen, Jodie Dodd
wiley   +1 more source

Practical recommendations for biochemical and genetic diagnosis of the porphyrias [PDF]

The porphyrias are a group of rare inborn errors of metabolism associated with various clinical presentations and long-term complications, making them relevant differential diagnoses to consider for many clinical specialities, especially hepatologists ...
Whatley, Sharon, Aarsand, Aasne Karine, To-Figueras, Jordi, Schmitt, Caroline, Sandberg, Sverre   +4 more
core   +1 more source

Comprehensive In Silico Analysis Identifies MSTO1 and LIG1 as Candidate Biomarkers With Diagnostic and Prognostic Relevance in Hepatocellular Carcinoma

Cancer Reports, Volume 9, Issue 9, September 2026.
ABSTRACT Background Hepatocellular carcinoma (HCC) is the most common primary liver malignancy and remains a major cause of cancer‐related mortality worldwide. Its poor clinical outcomes are largely attributed to late‐stage diagnosis and the limited accuracy of currently available diagnostic and prognostic biomarkers.
Jana Hamad, Hussein Fayyad‐Kazan, Fadi Abdel‐Sater   +2 more
wiley   +1 more source

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