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 wholebody 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.

Síndrome de fibromatosis hialina: reporte de un caso y revisión bibliográfica

“…El Cuadro 2 muestra la comparación de los casos clínicos descritos en la bibliografía con síndrome de fibromatosis hialina infantil, incluido el nuestro, con los principales datos clínicos de los pacientes. [21][22][23][24][25][26][27] La movilidad articular en pacientes con síndrome de fibromatosis hialina suele mejorar con la administración de penicilamina, 1,2 antiinflamatorios no esteroides, opiáceos y gabapentina para el tratamiento del dolor, además de fisioterapia. Algunos casos requieren tratamiento paliativo.…”

Multicentric Carpo-Tarsal Osteolysis

“…In Winchester syndrome, soft tissue swelling, osteopenia and cortical thinning are typically bilateral and symmetrical [ 7 ]. In hyaline fibromatosis syndrome, bone resorption is often observed in the distal phalanges, skull and long bones [ 8 ].…”