RESUMO
OBJECTIVES: Collagen VI-related dystrophies (COL6-RDs) have a broad clinical spectrum and are caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. Despite the clinical variability, two phenotypes are classically recognized: Bethlem myopathy (BM, milder form) and Ullrich congenital muscular dystrophy (UCMD, more severe form), with many patients presenting an intermediate phenotype. In this work, we present clinical and genetic data from 28 patients (27 families), aged 6-38 years (mean of 16.96 years), with COL6-RDs. PATIENTS AND METHODS: Clinical, muscle histology and genetic data are presented. COL6A1, COL6A2 and COL6A3 genes were analyzed by next-generation sequencing (NGS). RESULTS: Homozygous or heterozygous variants were found in COL6A1 (12 families), COL6A2 (12 families) and COL6A3 (3 families). Patients with the severe UCMD phenotype (three cases) had a homogeneous clinical picture characterized by neonatal onset of manifestations, no gait acquisition and a stable course, but with severe respiratory involvement. Most of the patients with the mild UCMD phenotype had neonatal onset of manifestations (88.8 %), delayed motor development (66.6 %), slowly progressive course, pulmonary involvement (55.5 %) and loss of the walking capacity before the age of 10 (66.6 %). In the intermediate group (nine patients), some children had neonatal onset of manifestations (44.5 %) and delayed motor development (88.9 %); but all of them achieved the ability to walk and were still ambulatory. Some patients that had the BM phenotype presented neonatal manifestations (57.1 %); however, all of them had normal motor development and normal pulmonary function. Only one patient from the group of BM lost the walking capacity during the evolution of the disease. Other frequent findings observed in all groups were joint retractions, spinal deformities, distal hyperextensibility, congenital hip dislocation and keloid formation. CONCLUSION: COL6-RDs present variable clinical manifestations, but common findings are helpful for the clinical suspicion. NGS is a valuable approach for diagnosis, providing useful information for the genetic counseling of families.
Assuntos
Colágeno Tipo VI/genética , Contratura/fisiopatologia , Distrofias Musculares/congênito , Esclerose/fisiopatologia , Adolescente , Adulto , Idade de Início , Brasil , Criança , Estudos de Coortes , Contratura/genética , Contratura/patologia , Progressão da Doença , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Luxação Congênita de Quadril/fisiopatologia , Humanos , Queloide/fisiopatologia , Masculino , Músculo Esquelético/patologia , Distrofias Musculares/genética , Distrofias Musculares/patologia , Distrofias Musculares/fisiopatologia , Esclerose/genética , Esclerose/patologia , Curvaturas da Coluna Vertebral/fisiopatologia , Adulto JovemRESUMO
Wound healing can result in the development of keloid scars that contain atypical fibroblasts and an overabundance of extracellular matrix components. Hyperbaric oxygenation (HBO) refers to exposure to pure oxygen under increased atmospheric pressure and is recognized as a valuable supplementary method of treatment for problematic wounds. The effect of HBO in the expression of insulin-like growth factor type 1 (ILGF-1) and transforming growth factor ß (TGF-ß) messenger RNAs was determined by semiquantitative RT-PCR in fibroblasts obtained from keloid scars and nonwound involved skin fibroblast from the same patient. ILGF-1 and TGF-ß are the principal mitogens during wound regeneration. We found a decrease in the growth of fibroblasts and in the expression of ILGF-1 and TGF-ß messengers in keloid and nonkeloid fibroblast after chronic exposition to hyperbaric oxygenation compared with normal oxygen partial pressure.
Assuntos
Fibroblastos/fisiologia , Oxigenoterapia Hiperbárica , Fator de Crescimento Insulin-Like I/genética , Queloide/genética , RNA Mensageiro/metabolismo , Fator de Crescimento Transformador beta/genética , Cicatrização , Fibroblastos/citologia , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Queloide/fisiopatologia , Fator de Crescimento Transformador beta/metabolismoRESUMO
Keloids are the result of a dysfunctional scarring process that leads to excessive deposition of extracellular matrix in susceptible individuals, causing them physical, psychological, and social discomfort. Many studies have investigated various aspects of keloid physiopathology; however, the relationship between dietary components and keloids has not received much attention. The present literature review was conducted to examine the available evidence related to the relationships between nutrition/nutrients and keloids. Findings from in vitro and in vivo studies indicate possible associations exist between keloids and fatty acids, soluble fibers, and phytochemicals. However, these relationships have not been fully explored and new studies need to be carried out before any efficient diet-based therapy can be prescribed for the prevention and treatment of keloids.
Assuntos
Dieta , Queloide , Animais , Dieta/efeitos adversos , Suplementos Nutricionais , Humanos , Queloide/dietoterapia , Queloide/tratamento farmacológico , Queloide/fisiopatologia , Queloide/prevenção & controle , Fitoterapia , Estresse Psicológico/etiologiaRESUMO
Keloids and hypertrophic scars are frequent observed. These two conditions are considered part of the abnormal wound-healing spectrum. The main difference between keloids and hypertrophic scars is the scar extension in relation to the original incision, where former extends beyond the original incision while the latter respects it. The main issue with both conditions is that treatment modalities used today offer unacceptable high recurrence rates, between 50 to 70 percent, when they are applied as monotherapy. With combined treatment modalities recurrence rates have improved partially depending mainly in the chosen combination and so, this strategy is likely the optimal choice for the management of these lesions. The objective of this review was to highlight the pathophysiology, clinical features, and management of keloids with mono or combined therapy, focusing mainly in the surgical and radiotherapy/brachytherapy modalities.
Assuntos
Humanos , Masculino , Feminino , Cicatriz Hipertrófica/epidemiologia , Cicatriz Hipertrófica/terapia , Queloide/epidemiologia , Queloide/fisiopatologia , Queloide/terapia , Cicatriz/epidemiologia , Cicatriz/terapiaRESUMO
Os autores apresentam uma revisão sobre a etiologia do quelóide e da cicatriz hipertrófica, bem como sobre as atuais alternativas de tratamento. Essas cicatrizes são resultado de um processo cicatricial alterado e apresentam-se frequentemente na prática clínica. Não existe atualmente um consenso sobre a etiologia e o melhor tratamento. Entre as terapêuticas propostas, a cirurgia, aplicação intralesional de corticóides, pressoterapia, crioterapia podem ser utilizados isoladamente ou associadas
Assuntos
Humanos , Queloide/terapia , Queloide/fisiopatologia , Cicatriz Hipertrófica/fisiopatologia , Cicatriz Hipertrófica/terapia , Condutas Terapêuticas Homeopáticas , Protocolos ClínicosRESUMO
Se hace referencia a la distinción entre cicatrización y cicatriz y la clasificación según el origen de esta última. Se pasa breve revista a los factores generales y locales que intervienen como complicación de la cicatrización. Se mencionan en forma de cuadro sinóptico las tres fases en que se divide el proceso de cicatrización y su tiempo de duración. Se dividen las cicatrices en viciosas y patológicas. Las primeras se definen como exageración del proceso normal de cicatrización y de las segundas, que son una neopatología, se hace referencia especial al queloide, diferenciándola de la cicatriz hipertrófica, que es una cicatriz viciosa. Breve referencia a un trabajo de investigación personal de 1966 sobre "Primeras etapas de la histogénesis del queloide provocado" y su conclusión. Se pasa revista a factores locales y generales que intervendrían en la formación de un queloide. Para concluir se formulan reglas elementales de la Cirugía dermatológica para lograr una buena cicatriz quirúrgica
Assuntos
Humanos , Cicatriz/classificação , Cicatrização/fisiologia , Queloide/fisiopatologia , Cicatrização/fisiologia , Queloide/diagnóstico , Queloide/etiologiaRESUMO
Se hace referencia a la distinción entre cicatrización y cicatriz y la clasificación según el origen de esta última. Se pasa breve revista a los factores generales y locales que intervienen como complicación de la cicatrización. Se mencionan en forma de cuadro sinóptico las tres fases en que se divide el proceso de cicatrización y su tiempo de duración. Se dividen las cicatrices en viciosas y patológicas. Las primeras se definen como exageración del proceso normal de cicatrización y de las segundas, que son una neopatología, se hace referencia especial al queloide, diferenciándola de la cicatriz hipertrófica, que es una cicatriz viciosa. Breve referencia a un trabajo de investigación personal de 1966 sobre "Primeras etapas de la histogénesis del queloide provocado" y su conclusión. Se pasa revista a factores locales y generales que intervendrían en la formación de un queloide. Para concluir se formulan reglas elementales de la Cirugía dermatológica para lograr una buena cicatriz quirúrgica (AU)
Assuntos
Humanos , Cicatrização/fisiologia , Cicatriz/classificação , Queloide/fisiopatologia , Queloide/diagnóstico , Queloide/etiologia , Cicatrização/fisiologiaRESUMO
Breve relato das características clínicas e histológicas dos quelóides, sua diferenciaçäo das cicatrizes hipertróficas e os vários métodos de tratamento
Assuntos
Humanos , Masculino , Feminino , Idoso , Corticosteroides/uso terapêutico , Cicatriz/etiologia , Criocirurgia , Queloide/etiologia , Síndrome de Rubinstein-Taybi/genética , Cirurgia Plástica , Colágeno/metabolismo , Queloide/tratamento farmacológico , Queloide/etiologia , Queloide/fisiopatologia , Queloide/radioterapia , Queloide/cirurgia , Queloide/terapia , Radiodermite/complicações , Transplante de Pele , Tretinoína/uso terapêuticoRESUMO
El queloide es un tipo de cicatrización de interés para la medicina general y particularmente para la cirugía. Este tipo de cicatrización es un fenómeno persistente, antiestético y algunas veces incapacitante; su manejo es difícil y el resultado con frecuencia es decepcionante para el paciente. Consideramos que toda información acerca de la cicatriz queloide nos hará entender mejor esta entidad. Abordamos los aspectos generales del queloide, incluyendo su historia, factores coadyuvantes, fisiopatología, aspectos clínicos, evolución, diagnóstico diferencial, histología y tratamiento.