Castiglione Davide, Terranova Maria Chiara, Picone Dario, Lo Re Giuseppe, Salerno Sergio
Dipartimento di Biopatologia e Biotecnologie Mediche, Policlinico, Università degli Studi di Palermo, Via del Vespro, 127 90127, Palermo, Italy.
Skeletal Radiol. 2018 Mar;47(3):425-431. doi: 10.1007/s00256-017-2799-y. Epub 2017 Oct 23.
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 patients' management.
透明纤维瘤病综合征（青少年透明纤维瘤病）是一种罕见的、进行性的常染色体隐性疾病，其主要特征是无定形透明物质在软组织中沉积，伴有病情进展和健康损害。它可能累及皮下或骨骼周围软组织，也可能发展为预后不良的内脏浸润性疾病。由于该疾病极为罕见，关于这种遗传性疾病的放射学数据报道极少。我们在此报告一例两个兄弟姐妹的病例，他们受该疾病的影响程度不同，具有不同的临床特征。对他们进行了全身磁共振成像（WBMR）检查，以评估不同病变的定位，排除任何内脏受累及其他相关异常，并确定患者的治疗方案。
