PMC6873213_01
GCTTS presenting in a young child. (A) Presence of a soft tissue mass along the third digit of left hand. (B) Hematoxylin and Eosin (H&E) staining of resected finger mass consistent with a diagnosis of GCTTS. Arrowheads indicate multinucleated giant cells.
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F1
At 6 years of age, a new mass appeared on the palmar aspect of the left hand at the base of the third digit (Figure 1A). The mass was resected and histology illustrated hallmark features of GCTTS including an abundance of multinucleated giant cells (Figure 1B; see Supplementary Figures 1, 2 for full images).
Progressive development of tendinopathy and arthritis. (A) Soft tissue swelling along the wrists and ankles. (B) X-ray of hand illustrating bone erosions of left wrist and fifth proximal interphalangeal joint. (C) H&E staining of resected mass from the right ankle. Arrow indicates multinucleated giant cell within a granulomatous structure. (D) MRI of left wrist illustrating erosions of carpal bone.
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F2
The mass was resected and histology illustrated hallmark features of GCTTS including an abundance of multinucleated giant cells (Figure 1B; see Supplementary Figures 1, 2 for full images). Physical examination was notable for symmetric soft tissue masses along the anterior tibialis tendon of ankles and extensor tendons of the wrists (Figure 2A). X-ray showed early bone destruction of the left fifth PIP and the left wrist (Figure 2B). Re-evaluation of slides from her previously resected ankle masses revealed chronic bursitis with multinucleated giant cells and rare granuloma-like structures (Figure 2C). MRI of wrists showed synovial thickening with abnormal signals around the tendon sheath, with evidence of wrist bone erosions (Figure 2D).
Identification of a mutation in NOD2. (A) Whole exome sequencing (WES) revealed a de novo mutation of NOD2 in the proband that was not found in the parents. This variant was previously described in EOS/Blau syndrome and is predicted to be pathogenic by multiple mutation analysis algorithms including SIFT, Polyphen2, and CADD. (B) MRI images of the right ankle before treatment and 1 year after initiation of etanercept and methotrexate. Arrows indicate an enhancing mass along the anterior tibialis tendon.
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F3
Arg334Gln) that was not found in either parent (Figure 3A). Marked improvement of tendinous inflammation in the anterior tibialis tendon was also demonstrated by MRI (Figure 3B), although residual enhancement was still evident despite the lack of symptoms or physical exam findings.