Results 51 to 60 of about 5,906 (226)

Cútis laxa granulomatosa: relato de caso Granulomatous slack skin: a case report

Anais Brasileiros de Dermatologia, 2007
A cútis laxa granulomatosa é variante de linfoma T cutâneo com características histopatológicas semelhantes às da micose fungóide, além da presença de infiltrado granulomatoso e perda de fibras elásticas.
Maria do Rosário Ferraz Roberti, Cristiane Araújo Tuma   +1 more
doaj   +1 more source

Dermatologic Features of Endocrine Tumor Syndromes—Systematic Review and Meta‐Analysis

International Journal of Dermatology, EarlyView.
ABSTRACT Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development.
Sára Pálla, Zseraldin Metyovinyi, Fanni Adél Meznerics, Arash Mirzahosseini, Judit Tőke, Miklós Tóth, Henriett Butz, Attila Patócs, Márta Medvecz   +8 more
wiley   +1 more source

Genetic susceptibility. [PDF]

, 2014
Why only 20% of smokers develop clinically relevant chronic obstructive pulmonary disease (COPD) was a puzzle for many years. Now, epidemiologic studies point clearly toward a large heritable component.
Lomas, David A, Marciniak, Stefan J
core   +1 more source

Removal of Toxic Metabolites—Chelation: Manganese Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt, George E. Kostakis, Rupert Purchase, John Spencer, Karin Tuschl   +4 more
wiley   +1 more source

Primary systemic amyloidosis, acquired cutis laxa and cutaneous mucinosis in a patient with multiple myeloma [PDF]

Anais Brasileiros de Dermatologia, 2013
A 57-year-old woman presented with periorbital ecchymoses, laxity in skin folds, polyneuropathy and bilateral carpal tunnel syndrome. A skin biopsy of the axillary lesion demonstrated fragmentation of elastic fibers, but with a negative von Kossa stain ...
Fernanda Guedes Lavorato, Maria de Fátima Guimarães Scotelaro Alves, Juan Manuel Piñeiro Maceira, Natasha Unterstell, Laura Araújo Serpa, Luna Azulay-Abulafia   +5 more
doaj   +1 more source

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Acta Ophthalmologica, Volume 103, Issue 7, Page e436-e455, November 2025.
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs, Berith M. Balfoort, Marion M. Brands, Anneloor L. M. A. ten Asbroek, Camiel J. F. Boon, Roselie M. H. Diederen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Hans R. Waterham, Ronald J. A. Wanders, Riekelt H. Houtkooper, Clara D. van Karnebeek, Arthur A. Bergen   +12 more
wiley   +1 more source

Cutis laxa: A report of two interesting cases

Indian Journal of Dermatology, 2013
Cutis laxa is a rare disease that may be either inherited or acquired. The acquired form is rarer than the inherited form. Pathogenesis of this disease is largely unknown.
Subhabrata Mitra, Amit Kumar Agarwal, Jayanta Kumar Das, Asok Gangopadhyay   +3 more
doaj   +1 more source

Acquired cephalic cutis laxa

Dermatology Online Journal, 2007
Author(s): Jr, Hiram Larangeira de Almeida; Rocha, Marcelo Passos da; Neugebauer, Samuel; Wolter, Manfred; Rocha, Nara ...
Jr, Hiram Larangeira de Almeida, Rocha, Marcelo Passos da, Neugebauer, Samuel, Wolter, Manfred, Rocha, Nara Moreira   +4 more
openaire   +4 more sources

Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis [PDF]

, 2000
Multiple arterial anomalies characterized by tortuosity and rolling of the pulmonary arteries and aorta were diagnosed on echocardiography in an asymptomatic newborn infant with a phenotype suggesting Ehlers-Danlos syndrome.
Andrade, José Lazaro de, Carvalho, Antonio Carlos, Gomes, Lourdes, Moisés, Valdir Ambrósio, Rivera, Ivan Romero, Silva, Celia Camelo   +5 more
core   +5 more sources

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source