Asunto(s)
Eritema/diagnóstico , Hiperpigmentación/diagnóstico , Queratodermia Palmoplantar/diagnóstico , Enfermedades de la Piel/diagnóstico , Nalgas , Niño , Diagnóstico Diferencial , Eritema/complicaciones , Extremidades , Cara , Humanos , Hiperpigmentación/complicaciones , Hipertrofia , Queratodermia Palmoplantar/complicaciones , Masculino , Papulosis Atrófica Maligna/diagnóstico , Piel/patología , Enfermedades de la Piel/patologíaRESUMEN
MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. The A163G polymorphism in osteoprotegerin (OPG) has been studied in osteoporosis with controversial results. The objective of the present study was to investigate the association(s) among MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis. The femoral neck and lumbar spine bone mineral densities (BMDs) were measured in 71 RA patients, and genotyping for the three polymorphisms was performed via restriction fragment length polymorphism analysis. Patients with osteoporosis/osteopenia exhibited statistically significant differences in the genotype frequencies of MTHFR C677T as well as an association with femoral neck BMD; TT homozygotes had lower BMDs than patients with the CT genotype, and both of these groups had lower BMDs than patients with the CC genotype. The associations of the MTHFR C677T polymorphism with osteoporosis/osteopenia and femoral neck BMD suggest that these polymorphisms confer a risk of developing osteoporosis in patients with rheumatoid arthritis, a risk that may be reduced with folate and B complex supplementation.
Asunto(s)
Artritis Reumatoide/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Osteoporosis/genética , Osteoprotegerina/genética , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Artritis Reumatoide/enzimología , Densidad Ósea , Femenino , Cuello Femoral/patología , Estudios de Asociación Genética , Haplotipos , Humanos , México , Persona de Mediana Edad , Osteoporosis/enzimología , Polimorfismo de Longitud del Fragmento de Restricción , Estadísticas no ParamétricasRESUMEN
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or 'human dermatosparaxis' is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria). Dermatosparaxis (meaning 'tearing of skin'), which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities.