Primary hypertrophic osteoarthropathy: ultrasound and MRI findings

Abstract

Primary hypertrophic osteoarthropathy is a rare genetic disorder related to failures in prostaglandin metabolism. Patients present with joint pain, limb enlargement, skin thickening and finger clubbing. Radiographs show characteristic periosteal reaction and thickening along the long bones. We present MRI and US findings in a child with the condition. Ultrasound showed echogenic tissue surrounding the long bones, presumably reflecting oedema and inflammatory tissue. Doppler sonograms demonstrated increased vascularity on the surface of some superficial bony structures.

Primary Hypertrophic Osteoarthropathy Mimicking Juvenile Idiopathic Arthritis: A Novel <b><i>SLCO2A1</i></b> Mutation and Imaging Findings

“…The identified MRI features and histological findings are compatible with each other [Loredo et al, 1996;Pineda, 1992]. In accordance with the reported MRI findings in the literature, our case exhibited periosteal thickening and endosteal enhancement on postcontrast images compatible with increased subcortical vascularity and tortuous intraosseous vascular channels [Pineda, 1992;Loredo et al, 1996;Adams et al, 2016]. SLCO2A1 is a member of the organic anion transporting polypeptide superfamily (OATPs).…”

“…Furthermore, bone resorption like acroosteolysis can be seen [Pineda et al, 1987;Martinez-Lavin, 2011]. Magnetic resonance imaging (MRI) findings of some PHO cases portraying diaphyseal cortical bone and endosteal abnormalities, periostitis, and convoluted intraosseous vascular channels have been reported [Adams et al, 2016].…”

The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation

“…We reviewed all 51 HPGD mutant patients (PHOAR1) reported before and found almost all of these PHOAR1 patients have digital clubbing (50/51, 98%) and periostosis (51/51, 100%). Besides, accompanying abnormalities such as hyperhidrosis (41/51, 80.4%), joint swelling (30/51, 58.8%), various forms of pachydermia (28/51, 54.9%) and arthralgia (22/51, 43.1%) have also been seen in a proportion of the PHOAR1 patients (1, 21, 22, 23, 25, 29, 34, 35, 36). Consistent with Hou’s study (27), gastrointestinal complications, peptic ulcer, chronic gastritis, anemia and myelofibrosis which were only presented in PHOAR2 patients, were absent in these PHOAR1 patients.…”

“…Pineda et al (38) demonstrated remodeling and thickening of cortical bone and tortuous intraosseous vascular channels. Adams et al (34) found transverse long bone expansion with periosteal thickening using gadolinium-enhanced MR images. In the present study, MRI of bilateral legs was performed in the PHO patient.…”

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“…Ultrasound in PHO may show echogenic tissue surrounding the long bones, likely a reflection of edema and inflammatory tissue. 40,41 …”