2,353 results match your criteria: "Porphyria Cutanea Tarda"
Enhanced cardiovascular risks in patients with porphyria Cutanea Tarda: A retrospective cohort study.
J Eur Acad Dermatol Venereol
December 2024
Department of Dermatology, University of Texas Medical Branch, Galveston, Texas, USA.
Milia within resolving bullous pemphigoid lesions.
Dermatol Online J
August 2024
Department of Dermatology, King Abdullah Medical Complex, Jeddah, Saudi Arabia.
Article Synopsis
Porphyria cutanea tarda: a unique iron-related disorder.
Hematology Am Soc Hematol Educ Program
December 2024
Harvard Medical School, Boston, MA.
Article Synopsis
Porphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder.
Cureus
November 2024
Division of Hematology and Oncology, Sidney Health Center Cancer Care, Sidney, USA.
Article Synopsis
Article Synopsis
- - Porphyria cutanea tarda (PCT) is a common chronic skin condition often related to hepatitis C, but this case presents a rare instance triggered by hepatitis E virus (HEV) infection, leading to symptoms like skin fragility and blistering.
- - The patient was treated with erythrocytapheresis and hydroxychloroquine, which were effective therapies, showcasing erythrocytapheresis as a good alternative to traditional phlebotomy.
- - This case highlights the importance of considering HEV as a potential cause of PCT and suggests that erythrocytapheresis could be a promising treatment method in cases linked to viral infections.
Nail Bed Regeneration by Excision of Distal Scarred Matrix in a Patient with Porphyria Cutanea Tarda.
Plast Reconstr Surg Glob Open
August 2024
University of Calgary, Department of Surgery, Section of Plastic Surgery, Calgary, Alberta.
Article Synopsis
- * A case involving a patient with onycholysis caused by porphyria cutanea tarda is discussed where a technique from 2003 was implemented to successfully lengthen the nail bed.
- * The procedure involved removing a crescent-shaped piece of the nail bed from all five fingers on the right hand in one surgery, which was found to be effective and met the patient's expectations.
Anogenital Erosive Lichen Sclerosus in a Male With Multiple Autoimmune Conditions.
Cureus
July 2024
Dermatology, HCA Florida Largo Hospital, Largo, USA.
Article Synopsis
Novel mutation for porphyria cutanea tarda, type 2: a case report.
AME Case Rep
May 2024
Division of Gastroenterology and Hepatology, Department of Medicine, Wake Forest University School of Medicine/Atrium Health Wake Forest Baptist Medical Center, Winston-Salem, NC, USA.
Article Synopsis
- Porphyria cutanea tarda (PCT) is a skin condition primarily caused by defects in the liver enzyme uroporphyrinogen decarboxylase (UROD), with type 1 PCT being the more common form associated with risk factors like alcohol use, liver disease, and hormonal therapy.
- A case study describes an elderly man with PCT who has risk factors including heavy alcohol and tobacco use, along with a novel genetic mutation affecting UROD function.
- The identified mutation, c.224 G>C; p. Arg 75 Pro, was shown to significantly reduce UROD enzyme activity by 50%, suggesting it is a pathogenic factor contributing to the patient's condition.
Atypical presentation of pellagra with black urine: A clinical conundrum.
SAGE Open Med Case Rep
July 2024
University Medical Unit, Colombo South Teaching Hospital, Kalubowila, Sri Lanka.
Article Synopsis
- - Niacin (Vitamin B3) is vital for energy production, metabolism, and DNA repair, with severe deficiency leading to a condition called pellagra, which can cause dermatitis, dementia, diarrhea, and death if untreated.
- - A case involved a 68-year-old woman with symptoms like photosensitive dermatitis and abdominal pain, prompting diagnostic tests that ruled out porphyria cutanea tarda.
- - Ultimately, she was diagnosed with pellagra, and prompt treatment resulted in a complete recovery, highlighting the importance of timely diagnosis and management of this potentially fatal condition.
Article Synopsis
- - The goal of the educational activity is to enhance understanding of how pseudoporphyria manifests in patients.
- - It's aimed at healthcare professionals like doctors and nurses who focus on skin and wound care.
- - Participants will learn to recognize pseudoporphyria's symptoms, differentiate it from other conditions that cause blistering, and understand treatment options.
A rare case of porphyria cutanea tarda in a patient with a homozygous hereditary hemochromatosis gene H63D mutation in the setting of hereditary hemochromatosis.
JAAD Case Rep
August 2024
Department of Dermatology and Dermatopathology, Optum Medical Group, Colorado Springs, Colorado.
Practical recommendations for biochemical and genetic diagnosis of the porphyrias.
Liver Int
June 2024
Department of Medical Biochemistry, Université Paris Cité and INSERM U1149, Centre de Recherche sur l'Inflammation, Paris, France.
Article Synopsis
- Porphyrias are rare health problems caused by mistakes in the body's metabolism, leading to different symptoms and complications, making them important for doctors in various fields to consider.
- Diagnosing porphyria involves special tests to check for specific chemicals in the urine, blood, and stool, as just looking at symptoms isn't enough.
- Genetic testing can help understand porphyria better, especially for family members of those affected, but it's important to confirm certain chemical markers first before doing genetic tests.
Vesiculobullous skin lesions on the hands and face.
JAAD Case Rep
July 2024
Department of Oncodermatology, Centre Léon Bérard, Lyon, France.
[An overview of porphyrias].
Dermatologie (Heidelb)
July 2024
Klinik für Dermatologie, Venerologie und Allergologie, Universitätsmedizin Göttingen, Robert Koch Str. 40, 37075, Göttingen, Deutschland.
Article Synopsis
- Porphyrias are genetic metabolic disorders that disrupt enzymes involved in producing porphyrin and heme, leading to toxic byproducts like porphyrins.
- Symptoms vary widely, including skin issues in sunlight and dangerous neurovisceral attacks.
- Diagnosis involves biochemical tests of urine, blood, and stool, and treatment is complex, often needing collaboration among various medical specialists.
The clinical management of porphyria cutanea tarda: An update.
Liver Int
September 2024
Division of Hematology, University of Utah, Salt Lake City, Utah, USA.
Article Synopsis
- Porphyria cutanea tarda (PCT) is the most common type of porphyria and often linked to underlying health issues, significantly affecting liver health and longevity.* -
- Correct diagnosis and treatment of PCT are essential for clinicians, as it is a manageable disease with treatable complications.* -
- Recent advancements in understanding PCT and its health impacts can enhance clinical management, making it crucial for healthcare providers to stay updated.*
Understanding Hepatic Porphyrias: Symptoms, Treatments, and Unmet Needs.
Semin Liver Dis
May 2024
Department of Experimental Pathology, University of Pittsburgh, Pittsburgh, Pennsylvania.
Article Synopsis
- - Hepatic porphyrias are metabolic disorders where excess porphyrin precursors accumulate in the liver, leading to neurological symptoms and skin sensitivity, with some cases resulting in severe acute neurovisceral attacks.
- - This review focuses on types of acute hepatic porphyrias (like acute intermittent porphyria and hereditary coproporphyria) and those with skin symptoms (like porphyria cutanea tarda), addressing prevalence, symptoms, and treatments.
- - It also explores new treatment options, such as gene therapy using adeno-associated vectors and innovative chaperone therapies like lipid nanoparticles and small interfering RNA-based treatments.
From chemistry to genomics: A concise history of the porphyrias.
Liver Int
September 2024
School of Medicine, Cardiff University, Cardiff, UK.
Article Synopsis
- - The text summarizes the historical progression of understanding porphyrias, a group of disorders linked to haem biosynthesis, starting from the first cases reported in the 19th century to significant contributions by scientists like Meyer-Betz, Günther, and Waldenström.
- - Major breakthroughs include the classification and identification of different types of porphyrias, the discovery of porphobilinogen’s role in acute porphyria, and Hans Fischer's Nobel-winning work on porphyrin structure and haemin synthesis in the early 20th century.
- - By 2000, advancements in genetic research allowed for the cloning and sequencing of haem biosynthesis genes, leading to improved understanding of inherited porphyrias and the development of
Dermatologic manifestations of hereditary hemochromatosis: A systematic review.
J Eur Acad Dermatol Venereol
May 2024
Faculty of Medicine, UNSW Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Article Synopsis
- * The study reviewed 1582 publications from 1904 to 2023, narrowing it down to 22 studies, primarily case reports from the USA, UK, and France, involving 148 patients with skin symptoms associated with HH.
- * Key findings highlight diverse skin symptoms such as hyperpigmentation and resistant pruritus linked to iron deposition, while also indicating potential links between HH and skin cancers, underlining the importance of early identification for familial care.
Drug-Induced Pseudoporphyria: A Case Report.
Cureus
April 2024
Dermatology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Article Synopsis
- - Pseudoporphyria is a rare skin condition that resembles porphyria cutanea tarda (PCT), and distinguishing between the two is crucial for accurate diagnosis.
- - It’s linked to chronic kidney failure, certain medications, and tanning bed use, and can cause skin issues like fragility, blisters, and scarring, especially in sun-exposed areas.
- - A case report highlights a 20-year-old male diagnosed with pseudoporphyria after ruling out true porphyria, who was treated with hydroxychloroquine sulfate and advised to take strict sun protection measures.
Porphyria cutanea tarda in Scotland: underlying associations and treatment approaches.
Int J Dermatol
December 2024
Scottish Photobiology Service, Photobiology Unit, University of Dundee & NHS Tayside, Ninewells Hospital & Medical School, Dundee, UK.
Article Synopsis
- Porphyria cutanea tarda (PCT) is a rare, but the most common form of skin porphyria, with a study in Scotland reviewing 27 diagnosed patients from 1987 to 2022.
- The study found that most patients were male with an average diagnosis age of about 56, and common factors linked to PCT included heavy alcohol consumption, genetic hemochromatosis, smoking, and hepatitis C.
- Treatment varied among patients, and while 95.2% showed biochemical improvement, achieving complete remission was less common; long-term follow-up is needed to watch for potential relapses.
Extrahepatic Manifestations of Chronic Hepatitis C Virus (HCV) Infection.
Cureus
March 2024
Rheumatology, Centinela Hospital, Los Angeles, USA.
Article Synopsis
- Hepatitis C virus (HCV) is a significant cause of serious liver diseases, such as chronic hepatitis and liver cirrhosis, as well as hepatocellular carcinoma.
- Chronic HCV infection is also linked to various extrahepatic conditions that can result in serious health issues, including cryoglobulinemia, autoimmune diseases, and cardiovascular problems.
- Understanding these extrahepatic manifestations is crucial for early diagnosis and effective anti-viral treatment, which can help reduce long-term complications related to chronic HCV infection.
IgM-mediated epidermolysis bullosa acquisita.
JAAD Case Rep
April 2024
Dermatopathology Partners, Knoxville, Tennessee.
Dermatological Manifestations in Patients With Chronic Kidney Disease: A Review.
Cureus
January 2024
Digital Health, Universidad Nacional Autónoma de México, Ciudad de Mexico, MEX.
Article Synopsis
- Chronic kidney disease (CKD) progresses over time, leading to various skin-related symptoms as toxin levels and inflammation increase in the body.
- Nonspecific skin issues might include itching, dry skin, and pigmentation problems, while more specific conditions could involve serious disorders like eruptive xanthoma and nephrogenic systemic fibrosis.
- Recognizing these skin changes early is crucial for improving treatment outcomes and overall patient health, as they can indicate underlying CKD complications and the need for timely intervention.
Porphyria cutanea tarda in a human immunodeficiency virus-positive patient.
Med Clin (Barc)
May 2024
Servicio de Dermatología, Consorcio Hospital General Universitario de Valencia, Valencia, España.
Comments and illustrations of the WFUMB CEUS liver guidelines: Peliosis hepatis and porphyria.
Med Ultrason
June 2024
Department Allgemeine Innere Medizin, Kliniken Hirslanden, Beau Site, Salem und Permanence, Bern, Switzerland.
Article Synopsis
- The article discusses guidelines from the World Federation for Medicine and Biology (WFUMB) regarding contrast-enhanced ultrasound (CEUS) specifically related to very rare focal liver lesions (FLL).
- It focuses on the ultrasound appearance of peliosis hepatis and porphyria cutanea tarda, highlighting how these conditions can often be diagnosed visually without needing a biopsy.
- The goal is to enhance clinicians' understanding of the clinical presentation and imaging characteristics of these focal liver lesions to improve diagnostic accuracy.