Hyaline fibromatosis syndrome: A rare case of multifocal intra-articular involvement.

Abstract:

:Hyaline fibromatosis syndrome (HFS) is a rare, progressive, autosomal recessive disorder that presents with connective tissue deposition of amorphous hyaline material within the musculocutaneous tissue and/or visceral organs. HFS presents clinically in infancy or early childhood and can result in severe disability and life threatening complications. Given the rarity of the disorder, the imaging characteristics of HFS are seldom described in the literature. We describe a case of a 25-year-old patient presenting with bilateral knee pain, limited range of motion in her extremities, and lower extremity weakness with detailed MR imaging demonstrating the first case of multifocal intra-articular deposition of hyaline material within several joints.

journal_name

Clin Imaging

journal_title

Clinical imaging

authors

DeVita R,Faraji N,Nakfoor R,Elliott R,Kosmas C

doi

10.1016/j.clinimag.2020.10.015

subject

Has Abstract

pub_date

2021-02-01 00:00:00

pages

51-55

eissn

0899-7071

issn

1873-4499

pii

S0899-7071(20)30379-X

journal_volume

70

pub_type

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