Tratamiento de la displasia fibrosa asociada a hemofilia C: a propósito de un caso

espanolLa displasia fibrosa es una enfermedad osea benigna que cambia el tejido oseo normal por una proliferacion de tejido conectivo. Se piensa que la alteracion del gen Gsalfa es la principal razon de la enfermedad. La hemofilia C es una enfermedad sanguinea, hereditaria rara, que provoca hemorragias en pacientes afectos. Es autonomica recesiva, por lo que hombres y mujeres pueden estar afectos. Paciente de 13 anos que desarrolla una displasia fibrosa en maxilar superior derecho que empieza con dolor durante la masticacion de alimentos duros. Presenta abombamiento de vestibulo y enrojecimiento de paladar derecho. Presenta un deficit discreto de factor XI (heterocigoto). Por ello, necesita una preparacion especial antes de extirpar la lesion debido a su deficit. Se ha descubierto que la razon de la displasia fibrosa es la mutacion del gen Gs? (GNAS1) que esta en el cromosoma 20q. La causa de la hemofilia C es el deficit del factor XI debido a una mutacion del gen FXI en el cromosoma 4. Quizas estas dos raras enfermedades tengan una relacion, porque ambas se presentan en el mismo paciente. EnglishFibrous dysplasia is a benign bone disease that changes normal bone tissue for a proliferation of connective fibrous tissue. It is thought that an alteration of the Gsalpha gene is the main cause of the disease. Hemophilia C is a rare inherited blood disease leading to abnormal hemorrhages in affected patients. They have a factor XI deficiency. It is the least drequent of all hemophilias. It is a recesive autosomal disease, affecting both men and woman. A 13 year-old patient developed fibrous dysplasia in right upper maxila. The patient started with pain on chewing hard food. She had vestibular swelling and reddening of the right side of the palate. She had a discrete factor XI deficiency (heterozygotic). She needed special preparation before the lesion could be removed because of her deficiency. It has been discovered that the mutation of gene Gsalpha (GNAS1) is the reason for fibrous dysplasia. This gene is a chromosome 20q. The cause of hemophilia C is a factor XI deficiency due to a mutation in the FXI gene in chromosome 4. Perhaps these two rare diseases are related, because both are unusual diseases and both are in the same patient.