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 Imagingjournal_title
Clinical imagingauthors
DeVita R,Faraji N,Nakfoor R,Elliott R,Kosmas Cdoi
10.1016/j.clinimag.2020.10.015subject
Has Abstractpub_date
2021-02-01 00:00:00pages
51-55eissn
0899-7071issn
1873-4499pii
S0899-7071(20)30379-Xjournal_volume
70pub_type
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