TY - JOUR
T1 - Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis): whole-body MR findings in two siblings with different subcutaneous nodules distribution
AU - Terranova, Maria Chiara
AU - Salerno, Sergio
AU - Castiglione, Davide Giuseppe
AU - Picone, Dario
AU - Lo Re, Giuseppe
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - Fibromatosis; Hyaline; Juvenile; Whole body MR; Radiology
KW - Nuclear Medicine and Imaging
KW - Fibromatosis; Hyaline; Juvenile; Whole body MR; Radiology
KW - Nuclear Medicine and Imaging
UR - http://hdl.handle.net/10447/245603
M3 - Article
VL - 47
SP - 425
EP - 431
JO - Skeletal Radiology
JF - Skeletal Radiology
SN - 0364-2348
ER -