Results 61 to 70 of about 998 (161)

Hereditary Hemochromatosis Unmasked by Yersiniosis: Report of Three Cases

Clinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Yersiniosis has a causal relationship with hereditary hemochromatosis (HH). Physicians should have a high index of suspicion for the diagnosis of HH when approaching a patient with yersiniosis in the setting of high ferritin levels and increased iron saturation. Yersiniosis serves as a precursor for the diagnosis of HH.
Karam Karam, Elias Fiani
wiley   +1 more source

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage [PDF]

, 2019
Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars.
Chen, L, Lederhandler, M, Meehan, SA, Brinster, NK, Neimann, A   +4 more
core   +1 more source

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management

Liver International, Volume 45, Issue 1, January 2025.
Abstract The erythropoietic protoporphyrias consist of three ultra‐rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (EPP1), X‐linked protoporphyria (XLEPP) and CLPX‐protoporphyria (EPP2), which all lead to the accumulation of protoporphyrin IX (PPIX) in erythrocytes.
Anna‐Elisabeth Minder, Louisa G. Kluijver, Jasmin Barman‐Aksözen, Elisabeth I. Minder, Janneke G. Langendonk   +4 more
wiley   +1 more source

Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria

, 2007
The porphyrias are a group of uncommon metabolic diseases caused by enzyme deficiencies within heme biosynthesis that lead to neurotoxic or phototoxic heme precursor accumulation. There are four acute porphyrias characterized by neuropsychiatric symptoms:
Harper, P,, Wahlin, S,
core   +1 more source

Usefulness of the large language model ChatGPT (GPT‐4) as a diagnostic tool and information source in dermatology

JEADV Clinical Practice, Volume 3, Issue 5, Page 1570-1575, December 2024.
Abstract Background The field of artificial intelligence is rapidly evolving. As an easily accessible platform with vast user engagement, the Chat Generative Pre‐Trained Transformer (ChatGPT) holds great promise in medicine, with the latest version, GPT‐4, capable of analyzing clinical images.
Jacob P. S. Nielsen, Christian Grønhøj, Lone Skov, Mette Gyldenløve   +3 more
wiley   +1 more source

Porphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis

Journal of Investigative Medicine High Impact Case Reports, 2019
Porphyria cutanea tarda (PCT) is a condition of dysregulated heme synthesis that leads to accumulation of photosensitizing precursors with resultant fragility and blistering of the skin.
Manasi Singh MD, Ashley Duckett MD, Marc Heincelman MD   +2 more
doaj   +1 more source

Co-Inheritance of Mutations in the Uroporphyrinogen Decarboxylase and Hemochromatosis Genes Accelerates the Onset of Porphyria Cutanea Tarda

, 2000
Porphyria cutanea tarda is a skin disease caused by photosensitization by porphyrins whose accumulation is caused by deficiency of hepatic uroporphyrin- ogen decarboxylase activity.
Roberts, Andrew G., Jackson, Helen A., Shudell, Emma, Darby, Cindy, Worwood, Mark W., Morgan, Rhian R., Rowlands, Gareth Lloyd, Elder, George H., Brady, Jennifer J., Whatley, Sharon D., Watson, Rosemarie, Paiker, Janice   +11 more
core   +1 more source

Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda

Molecular Genetics and Metabolism Reports, 2020
Asymptomatic aminotransferase elevation has a broad differential in the pediatric population. We report an 11-year old male with a history of urine discoloration found to have persistently elevated aminotransferases.
Alanna Strong, Kierstin Keller, Jamie Merves   +2 more
doaj   +1 more source

A review on toxic epidermal necrolysis‐like superficial wound lesions: Issue and challenge on 10 clinical entities

International Wound Journal, Volume 21, Issue 12, December 2024.
Abstract Toxic epidermal necrolysis (TEN) is a severe skin reaction caused by extensive epidermal and mucosal necrosis. This clinical phenomenon is known as an acute syndrome of apoptotic pan‐epidermolysis (ASAP). The ASAP phenomenon is observed in conditions that mimic TEN, highlighting the challenge in distinguishing these conditions.
Bahareh Abtahi‐Naeini, Mahsa Pourmahdi‐Boroujeni, Fereshte Rastegarnasab, Ali Emamjomeh   +3 more
wiley   +1 more source

The management of porphyria cutanea tarda

Clinical and Experimental Dermatology, 2001
AbstractPorphyria cutanea tarda (PCT), the commonest of all porphyrias, is usually characterized by blisters and fragility of skin in light-exposed areas. It can be clinically indistinguishable from other disorders including variegate porphyria and the diagnosis can only be made by rigorous biochemical analysis.
openaire   +2 more sources