PMC2964801_01
Photograph of bilateral lower extremities showing gross right limb enlargement, hypertrophy, disfigurement and skin ulceration
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This slow-growing plexiform neurofibroma since childhood had resulted in gross limb enlargement and disfigurement [Figure 1], necessitating debulking surgery.
Photograph of the back of the trunk showing multiple "cafe au lait" spots of variable sizes
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However, physical examination revealed numerous "cafe au lait" spots (>5 mm in greatest diameter) randomly distributed all over the body [Figure 2], with axillary freckling.
Slit lamp examination of the right eye showing multiple (five) pigmented iris hamartomas (Lisch nodules)
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Slit lamp examination of both eyes revealed multiple pigmented iris hamartomas (Lisch nodules); five in the right eye [Figure 3] and three in the left eye.
Conventional radiograph of the bilateral lower limbs shows disparity in limb length. The right limb appears relatively longer and shows soft tissue hypertrophy, periosteal and endosteal thickening (involving middle 1/3rd shaft of the tibia), scalloping of planter surface of right calcaneum and erosion of articular surfaces of the right talocalcaneal joint
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Osseous abnormalities included thinning of bones, erosion of distal articular surfaces and periosteal dysplasia [Figure 4].
Gray scale ultrasonography of the right lower limb shows multilobulated tortuous entanglement of tumors, oriented along the long axis of the nerve on longitudinal section, and "target sign" on transverse scan, evident as echogenic center and hypoechoic periphery
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However, due to the diffuse infiltrative nature of the lesion, the entering/exiting nerve points could not be detected [Figure 5].
Plain computed tomography (bone window) demonstrates a large periosteal defect giving way to the infiltrating mass lesion, periosteal/ endosteal thickening (axial and coronal image-arrows) and cortical erosions at talocalcaneal joint (sagittal image-arrows)
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In addition, it also demonstrated an infiltrating network of low attenuated masses traversing the soft tissue and invading the periosteum through a large periosteal defect [Figures 6 and 7].
Plain computed tomography (soft tissue window) shows thick wavy cords of low attenuated masses traversing the soft tissue and giving a reticular-network appearance to the right leg
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In addition, it also demonstrated an infiltrating network of low attenuated masses traversing the soft tissue and invading the periosteum through a large periosteal defect [Figures 6 and 7].
T1W sagittal and coronal sequences show marked atrophy and poor differentiation of individual muscles and variegated appearance of masses, ranging from nodular to thick irregular cords, few of them showing a branching pattern. The lesion shows signal intensity similar to as well as slightly higher than that of muscle
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The lesion exhibited mixed signal intensity similar to, and slightly higher than, that of muscle on T1W sequence [Figure 8] and heterogeneously high signal intensity on T2W/STIR sequences giving a "bag of worms" appearance - the characteristic of plexiform neurofibromatosis [Figure 9].
On T2W/STIR (sagittal and coronal) sequences, the lesion demonstrates a characteristic "bag of worms" appearance of plexiform neurofibromatosis
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The lesion exhibited mixed signal intensity similar to, and slightly higher than, that of muscle on T1W sequence [Figure 8] and heterogeneously high signal intensity on T2W/STIR sequences giving a "bag of worms" appearance - the characteristic of plexiform neurofibromatosis [Figure 9].
Postcontrast T1W fat saturation image reveals marked but slight inhomogenous enhancement of the soft tissue (asterisk) and subperiosteal component (arrow) of the mass. The subperiosteal component also shows a central area of cystic necrosis
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Marked, but inhomogenous, enhancement of both the soft tissue and the subperiosteal component of the mass was evident on intravenous injection of gadolinium [Figure 10].
Dynamic 3D postcontrast computed tomography angiography (arterial phase) reveals hypertrophy of the right lower limb main arteries, which otherwise appear to be patent. Multiple tortuous collateral branches infiltrating soft tissues of the calf are also seen
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There were multiple tortuous collateral branches that infiltrated the soft tissues of the calf [Figure 11].
Screening magnetic resonance imaging of the brain shows a nonneoplastic hamartomatous lesion in the left basal ganglia
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T1WI, high signal intensity on T2W/FLAIR sequences and no enhancement after contrast administration. The lesion typically did not exhibit mass effect, edema or contrast enhancement, suggesting non-neoplastic hamartoma [Figure 12].
Histopathology of the resected mass reveals a large number of irregular infiltrative spindle cells, several nerve segments of varying length embedded in subcutaneous fat, many mast cells and myxoid stroma - finding consistent with diffuse plexiform neurofibromatosis
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The findings were suggestive of diffuse plexiform neurofibromatosis [Figure 13].