Results 31 to 40 of about 3,923 (158)
, 2008 Introdução:A cutis laxa é uma doença rara do tecido conjuntivo provocada por alterações da elastina. Caracteriza-se por pele sem elasticidade, flácida, mole e enrugada, dando aos doentes um aspecto envelhecido; o envolvimento sistémico é variável ...
Afonso, A +5 more
core
Sweet's syndrome leading to acquired cutis laxa in a child (Marshall's syndrome): A rare case report
Indian Journal of Paediatric Dermatology, 2016 Sweet's syndrome is very rare in children, fewer than 80 cases are reported in literature. The lesions usually resolve either spontaneously or after treatment without scarring.
H Bangaru +3 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 +8 more
wiley +1 more source
, 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
Cútis laxa: relato de caso Cutis laxa: case report
Anais Brasileiros de Dermatologia, 2010 A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico.
Gisele Moro do Nascimento +4 more
doaj +1 more source
Dermatology Reports, 2021 Cutis laxa (CL) is a group of rare cutaneous disease, inherited or acquired, characterized by inelastic, redundant, wrinkled, loose skin, with loss of elasticity and features of premature aging [...].
Gaia Moretta +3 more
doaj +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 +4 more
wiley +1 more source
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 +1 more
doaj +1 more source
Emerging Roles of De Novo Proline Biosynthesis in Human Diseases
FASEB BioAdvances, Volume 7, Issue 11, November 2025.De novo proline synthesis, a multi‐step biochemical pathway starting from glutamate, supplies essential protein building blocks. It supports redox balance, cell proliferation, signal transduction, and nucleotide and protein biosynthesis. This tightly regulated pathway, governed by conserved mechanisms, is disrupted in diseases such as cancer and ...
Ethan Pei, Junfeng Ma
wiley +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 +12 more
wiley +1 more source