Hyaline fibromatosis syndrome (HFS) is a rare, homozygous, autosomal recessive disease, characterized by deposition of hyaline material in skin and other organs, resulting in esthetic problems, disability, and potential life-threatening complications. Most patients become clinically apparent in the first few years of life, and the disorder typically progresses with the appearance of new lesions. We describe a rare case of a 20-year-old patient with juvenile-onset mild HFS who presented with a history of progressive anterior knee pain. Detailed magnetic resonance (MR) imaging findings with histopathological correlation are presented of hyaline fibromatosis of Hoffa's fat pad, including differential diagnosis. The diagnosis of HFS is generally made on basis of clinical and histopathological findings. Imaging findings, however, may contribute to the correct diagnosis in patients who present with a less typical clinical course of HFS.

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doi.org/10.1007/s00256-013-1746-9, hdl.handle.net/1765/69616
Skeletal Radiology
Department of Orthopaedics

van Raak, S.M, Meuffels, D.E, Leenders, G.J.H.L, & Oei, E.H.G. (2014). Hyaline fibromatosis of Hoffa's fat pad in a patient with a mild type of hyaline fibromatosis syndrome. Skeletal Radiology, 43(4), 531–534. doi:10.1007/s00256-013-1746-9