Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution

Abstract: Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment. It may present involvement of subcutaneous or periskeletal soft tissue, or may develop as a visceral infiltration entity with poor prognosis. Very few radiological data about this inherited condition have been reported, due to the extreme rarity of disease. We herein present a case of two siblings, affected by different severity of the disease, with different clinical features. They were examined by whole-body MR (WBMR) in order to assess different lesions localization, to rule out any visceral involvement and any other associated anomalies and to define patientsâ management.