[Caffey disease. A case report]

Abstract

Infantile cortical hyperostosis or Caffey-Silverman syndrome is a disorder of unknown cause that affects the skeleton and some of the contiguous fascias and muscles. It occurs under all circumstances, in cities, rural communities, in all types of climates, seasons, races, social strata, and its incidence is the same among males and females. We report herein a very rare disease, little known in world literature, in order to disseminate within the orthopedic setting the musculoskeletal alterations we found in Caffey-Silverman disease. We report a seven year-old female patient diagnosed with Caffey-Silverman disease, with presence of its different manifestations that include swelling of the right forearm (indurated edema without phlogosis), pain, irritability with a chronicity involving a course of years. She is undergoing primary treatment consisting of observation and symptom relief. We know that it is a disorder with an unknown etiology. We also know there is hypoxia, local necrosis and periosteal reaction; however, the triggers of these changes are still a mystery. There are several hypotheses, but none of them has been proven. Some reports of familial occurrence suggest a possible hereditary factor. The natural self-limitation of this disease has made it difficult to establish the type of heredity; it is likely a trait with an autosomal dominant transmission with variable penetrance. A hereditary defect of periosteal arterioles has been propose as well as factors such as diet, an allergic base and an immune origin. Attempts have been made to isolate viruses and bacteria, but they have failed. Serologic infection tests have been negative. Caffey syndrome is little known in world literature, as there are only a few articles on it in the PUBMED, EMBASE, MEDIGRAPHIC, LILACS and ARTEMISA data bases. Being aware of this rare disease allows for early suspicion and a better workup and contributes to orthopedic knowledge as its musculoskeletal alterations are reported. Despite its low prevalence, it should be part of the differential diagnoses in children with soft tissue swelling and bone abnormalities with signs of irritability and fever.