Introduction Chagasic megaesophagus (CM) is the most common digestive manifestation of Chagas disease in Brazil, and the State of Goiás is one of the most affected regions. In recent decades, the Hospital das Clínicas (HC)/Universidade Federal de Goiás (UFG) has been a reference center for the study and treatment of CM. The objective of this study was to characterize the current epidemiological profile of patients with CM observed at the HC of the UFG from 1998 to 2010. Methods In total, 939 patient records were analyzed, and age, gender, place of birth, serology, symptoms and radiological classification according to Rezende et al. were analyzed. Results The median patient age was 55 years. Male patients were more (54%) prevalent than female patients. The prevalence of younger patients (less than 31 years of age) was 4.2%, but 82.1% of the younger patients were from State of Bahia. Patients older than 40 years were the majority (85.5%). The radiological groups were distributed as follows: Group I (35.9%), Group II (32.9%), Group III (17%) and Group IV (14.2%). Conclusions Compared with previous studies by the same group in 1975, 1994 and 1995, the number of younger patients decreased, and the frequency curve has shifted to older patients.
A fibrodisplasia ossificante progressiva é uma doença genética rara do tecido conjuntivo, caracterizada por ossificação disseminada em tecidos moles e alterações congênitas das extremidades. Sua transmissão é autossômica dominante, com penetrância completa, mas expressão variável. O início ocorre na infância e o envolvimento progressivo axial e da região proximal dos membros leva a uma conseqüente imobilização e deformação articular. Apresentamos um caso de um paciente de 22 anos de idade, do sexo masculino, com quadro clínico característico de fibrodisplasia ossificante progressiva e discutimos os últimos avanços no diagnóstico e na fisiopatogenia desta entidade.
Fibrodysplasia ossificans progressiva is a rare hereditary connective tissue disease characterized by disseminated soft tissue ossification and congenital abnormality of the extremities. It is genetically inherited as a dominant trait with complete penetrance but variable expression. The onset takes place during childhood and the progressive involvement of the spine and proximal extremities leads to immobilization and articular deformity. We report a case of a 22-year-old male patient with typical symptoms of fibrodysplasia ossificans progressiva and discuss the new advances in the diagnosis and pathophysiology.