Enfermedad de Camurati-Engelmann: reporte de caso

Abstract

Camurati-Engelmann is an uncommon autosomal dominant disease, with no predilection for sex or race. Diagnosis is based on the clinical and radiological findings. The progressive diaphyseal and metaphyseal hyperostosis mainly affects the long bones and then the flat bones, such as those of the cranial vault. It is also associated with blood disorders including, anemia, leukopenia, and splenomegaly. There is no specific treatment for this disease, but several miscellaneous results with treatments using steroids, as well as with bisphosphonates have been described. We report a case of a man with radiological and clinical findings suggestive of this disease, who presented with a subtrochanteric fracture in one of the sites of expression of this bone disease. We describe the diagnostic approach that led to this disease suspicion, and further clinical, radiological, and histopathological findings, in order to present a discussion on its management.