PMC9178996_01
Images of the 13-year-old patient (a), 8-year-old patient (b), their father (c), and grandmother (d) showing multiple palpable masses of their limbs and chest wall.
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We were able to collect pictures of their grandmother and father showing limbs deformities due to multiple osteochondromas (Figure 1).
Radiographies of the 13-year-old patient showing multiple sessile or pedunculated bony structure arising from the right proximal humeral metaphysis and left proximal humeral shaft (a), bilateral distal femoral metaphysis (b), bilateral proximal and distal tibial and fibular metaphysis (b and d), bilateral distal radial and ulnar metaphysis (d), consisted with multiple osteochondromas. Both distal tibiofibular joints were deformed. The right proximal humeral metaphyseal osteochondroma showed rings and arcs calcification, typical for osteochondroma.
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A radiographic examination of the axial skeleton demonstrated multiple osteochondromas of bilateral humerus; distal ulna and radius; distal and proximal femurs, tibias, and fibulas (Figure 2). The osteochondromas of the right humeral metaphysis showed rings and arcs calcification (Figure 2), which were suspected for malignant transformation. T1w images, heterogeneous enhancement after intravenous injection of gadolinium (Figure 3). This lesion had heterogeneous calcifications and a cartilage cap measuring 2-3 mm in thickness (Figure 2).
Contrast-enhanced MRI of the right humeral mass (blue arrow) of the 13-year-old male patient showed hypointensity on axial T1w image (a), hyperintensity on coronal PD FATSAT image (b) with a cartilage cap of 2-3 mm thickness (red arrow), well-delineated margin, heterogeneous enhancement after intravenous injection of gadolinium on axial and coronal post-contrast T1 FATSAT images (c and d).
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T1w images, heterogeneous enhancement after intravenous injection of gadolinium (Figure 3). This lesion had heterogeneous calcifications and a cartilage cap measuring 2-3 mm in thickness (Figure 2).
PMC9178996_02
Images of the 13-year-old patient (a), 8-year-old patient (b), their father (c), and grandmother (d) showing multiple palpable masses of their limbs and chest wall.
10.1177_2050313X221103732-fig1.jpg
PMC9178996_03_10.1177_2050313X221103732-fig1.jpg
fig1-2050313X221103732
We were able to collect pictures of their grandmother and father showing limbs deformities due to multiple osteochondromas (Figure 1).
Radiographies of the 8-year-old patient showing multiple sessile or pedunculated bony structure arising from bilateral proximal humeral metaphysis, right ribs and right scapula (a), bilateral distal femoral metaphysis (c), bilateral proximal and distal tibial and fibular metaphysis (c and d), bilateral third proximal phalanges (b), bilateral distal radial and ulnar metaphysis (b), consisted with multiple osteochondromas. The left proximal humeral osteochondroma and right distal ulnar osteochondroma showed rings and arcs calcification. Fracture and deformity of right distal radius and deformity of the left distal fibula due to mass effect (red arrow).
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The radiographic examinations of the skeleton demonstrated multiple osteochondromas of the right ninth rib, bilateral humerus; distal ulna and radius; distal and proximal femurs, tibias, and fibulas; third proximal phalange (Figure 4). The osteochondroma of the right distal ulna is noted with rings and arcs calcification and pathologic fracture of the right distal radius (Figure 4).
Contrast-enhanced MRI of the left humeral mass (blue arrow) of the 8-year-old male patient showed hypointensity on coronal T1w image (a), hyperintensity on axial PD FATSAT image (b) with a cartilage cap of 2-3 mm thickness (red arrow), clear margin without indistinction, heterogeneous enhancement after intravenous injection of gadolinium on axial and sagittal post-contrast T1 FATSAT images (c and d).
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On MRI, these lesions had lobulated margin, PD hyperintensity and T1 hypointensity, partial diffusion restriction, heterogeneous enhancement after injection of intravenous gadolinium, heterogeneous calcifications, and a cartilage cap measuring 2-3 mm in thickness (Figure 5).
Resected left humeral mass of the 8-year-old male patient in full observation (a, b, c) and cut in half (d). Macroscopic evaluation showed cauliflower-like calcification with a very thin cartilage cap.
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Macroscopic evaluation showed cauliflower-like calcification with a very thin cartilage cap (Figure 6).
Microscopic evaluation of the resected humeral mass of the 8-year-old male patient. Histopathology showed the outer perichondrium (Star, a, H.&E x200), the cartilage cap of 2 mm with superficial chondrocytes clustered (Star, b, H&E x40), and the bony stalk with endochondral ossification at the base (Star, c, H&E x400).
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Histopathology showed the outer perichondrium, the cartilage cap of 2 mm with superficial chondrocytes clustered, and the bony stalk with endochondral ossification at the base (Figure 7).
PMC9178996_03
Images of the 13-year-old patient (a), 8-year-old patient (b), their father (c), and grandmother (d) showing multiple palpable masses of their limbs and chest wall.
10.1177_2050313X221103732-fig1.jpg
PMC9178996_03_10.1177_2050313X221103732-fig1.jpg
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We were able to collect pictures of their grandmother and father showing limbs deformities due to multiple osteochondromas (Figure 1).
Three-generation pedigree of our patients (red circles) with members diagnosed with HME marked by black square or circle.
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The record showed similar clinical conditions in grandmother, father, paternal aunt and her daughter, and cousins with nearly half of the family members affected (Figure 8).