Results 51 to 60 of about 1,932 (163)

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Skin Fragility and Hyperpigmentation in a Patient With HIV

JEADV Clinical Practice, Volume 5, Issue 2, Page 716-718, June 2026.
Catalina Retamal, Maximiliano Maass, María Fernanda Martin   +2 more
wiley   +1 more source

Dermatologic manifestations of hereditary hemochromatosis: A systematic review

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 5, Page 976-986, May 2025.
Abstract Hereditary hemochromatosis (HH) is a genetic disorder leading to excessive iron absorption, impacting multiple organs, notably the skin, nails and mucosae. The objective of this study is to elucidate the dermatologic manifestations, associated symptoms, pathophysiology and management recommendations of HH.
Hossein Akbarialiabad, Parnian Jamshidi, Jeffrey P. Callen, Dédée F. Murrell   +3 more
wiley   +1 more source

Dorsal Hand Involvement in Porphyria Cutanea Tarda

Acta Médica Portuguesa
n/a.
Gilberto Pires da Rosa, Manuel Bernardo Costa, Alberto Mota   +2 more
doaj   +1 more source

Localized Scleroderma Associated with Chronic Hepatitis C

Case Reports in Dermatological Medicine, 2012
Hepatitis C virus has been associated with various skin conditions, such as porphyria cutanea tarda and lichen planus, as an example. The objective of this paper is based on the description of a case of localized morphea, which came years after the ...
Felipe Ladeira de Oliveira, Luisa Kelmer Côrtes de Barros Silveira, Maria Lourdes Candela Rambaldi, Fabio Cuiabano Barbosa   +3 more
doaj   +1 more source

Practical recommendations for biochemical and genetic diagnosis of the porphyrias

Liver International, Volume 45, Issue 3, March 2025.
Abstract 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, gastroenterologists and dermatologists.
Aasne K. Aarsand, Jordi To‐Figueras, Sharon Whatley, Sverre Sandberg, Caroline Schmitt   +4 more
wiley   +1 more source

Pregnancy Induced Porphyria Cutanea Tarda

Indian Journal of Dermatology, 2000
Prophyria cutanea tarda induced by pregnancy in a 20 year old primi is described along with clinical, biochemical and histological features. All the lesions expect hypertrichosis resolved following childbirth.
Shanker B, Mohan K, Sentamilselvi G, Janaki V, Pandurangan C.N   +4 more
doaj  

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

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

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