RESUMO
OBJECTIVE: Proteus syndrome (PS) is characterized by patchy or segmental overgrowth and hyperplasia of multiple tissues and organs, along with susceptibility to development of tumors. Very few cases are reported in literature from developing countries. Due to certain overlapping features with other overgrowth syndromes, diagnosis is usually delayed. Our aim was to describe clinical profile of this rare condition in six patients. MATERIALS AND METHODS: Retrospective case sheet review of patients followed in a Pediatric Genetic and Metabolic clinic at a tertiary care institute of North India with a diagnosis of hemihypertrophy/overgrowth syndrome. RESULTS: Six cases presented with asymmetric overgrowth and peculiar features suggestive of PS were included in this study. Age at presentation was 2 months to 10 years; two were males and four were females. Hemihypertrophy was noticed in only one case at birth, and focal overgrowths in rest of other patients were seen later during childhood. CONCLUSION: Due to certain overlapping features with other overgrowth syndromes, diagnosis of PS is usually delayed. Pediatricians are the first persons who come across such patients and they should be aware about this rare condition.
Assuntos
Pré-Escolar , Feminino , Dedos/anormalidades , Hamartoma/diagnóstico , Hamartoma/epidemiologia , Hipertrofia/congênito , Hipertrofia/diagnóstico , Hipertrofia/epidemiologia , Humanos , Lactente , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/epidemiologia , Lipoma/diagnóstico , Lipoma/epidemiologia , Masculino , Síndrome de Proteu/diagnóstico , /epidemiologiaRESUMO
Paciente de 54 años, masculino, con antecedentes de hta, para lo cual se hace estudio encontrándose como hallazgo en rx de tórax nódulo de 5-6 cm que ocupa lóbulo inferior de pulmón izquierdo hacen estudios correspondientes, realizándose tratamiento quirúrgico que arrojó hamartoma condroide...
54-years-old, male patient, with antecedents of hta. A study was indicated, finding a nodule of 5-6 cm in the low lobule of the left lung in thorax rx. The correspondent studies were made, and the surgical treatment showed condroid hamartoma.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Hamartoma/diagnóstico , Hamartoma/epidemiologia , Hamartoma/etiologia , Pulmão/anormalidades , Pulmão/cirurgiaRESUMO
Se presenta una serie de 51 casos de tumores registrados en el período neonatal, entre 1.180 pacientes pediátricos con tumores, atendidos entre los años 1969 y 1989 en un hospital pediátrico del área metropolitana de Santiago. Los tumores neonatales más frecuentes fueron los teratomas (n:30), seguidos de los tumores de origen vascular (n:6), neuroblastomas IV-S (n:5), hamartomas hepáticos (n:4), los tumores renales (n:3), sarcoma de partes blandas (n:2) y melanoma melanocítico (n:1). Se destaca el comportamiento diferente de los procesos neoplásticos durante esta etapa de la vida y la importancia que tiene el tratamiento quirúrgico