Familial occurrence of Caffey-Silverman syndrome

Abstract

Caffey-Silverman syndrome, or infantile hyperostosis, is a rare condition of unclear etiology and pathogenesis affecting the skeletal system and the surrounding soft tissues. It is characterized by indurated swelling of soft tissues and cortical bone hyperostosis. The changes are usually multiple and affect such parts as the mandible, scapulae, ribs, clavicles, and forearm and shank bones. When long bones are affected, the lesions are typically limited to shafts, with the sparing of meta- and epiphyses. The prognosis is usually good and, in most patients, the changes resolve spontaneously after several months to over a year, leaving no permanent sequelae. Caffey-Silverman syndrome needs to be distinguished from osteitis, for which it is most often mistaken. We present a case of an early form of Caffey-Silverman syndrome. The course of disease in this form is usually severe, with multifocal lesions, and the typical self-limiting regression is not complete. In our patient, a systemic musculoskeletal condition was already suspected following the detection of skeletal defects in a prenatal US examination. Physical and radiological work-up in the first weeks of life revealed the typical signs of congenital Caffey-Silverman syndrome. Several years of follow-up showed gradual regression of the bone deformities with persistent lower-extremity bowing. Due to a positive family history for Caffey-Silverman syndrome, the patient's pedigree was prepared. On the basis of the history data, existing radiographs and in- and outpatient medical records, Caffey-Silverman syndrome was confirmed in 10 family members. It was established that the cases of Caffey-Silverman syndrome in the patient's family were characterized by diverse phenotypic expression and different times of onset.