case_images: PMC10944971_01
case_images: Clinical features and mutation analysis of our patient. The patient has a large mass on the thoracic back, right axilla, and upper extremities (*; A,B), and the child has an irregular port-wine stain on the left chest near the axilla, and another on the right lower part of the back (blue arrows; A,B). Histopathology showed variable-sized vascular tissue with fibrous tissue hyperplasia and degeneration of the walls, with erythrocytes and lymphoid fluid-like material visible in the lumen (C, left and right panels), and pathology showed subcutaneous adipose tissue neoplastic hyperplasia (C, middle panel) (hematoxylin-eosin stain; magnification x40, local image magnification x100). Mutational analysis of affected skin revealed the presence of the heterozygous missense mutation Cys420Arg in PIK3CA, which is absent in blood (D). Three-dimensional prediction shows changes in protein structure before and after mutation (E).
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case_images: F1
case_images: A smooth fatty-overgrowth mass is visible on the left side of the lower back (Figures 1A,B). The adipose tissue from a mass on the child's back underwent whole exome sequencing, revealing a missense mutation c.1258T>C in the PIK3CA gene (Figure 1D), which is absent in blood, resulting in the substitution of cysteine with arginine in position 420 of the protein crystal structure (Figure 1E). The postoperative pathology examination of the excised tissue affirmed the presence of subcutaneous adipose tissue tumor-like hyperplasia and vascular malformations (Figure 1C).
case_images: Photographs and MRI images of the patient's spine and thorax before and after treatment. Magnetic resonance imaging showed scoliosis (A; red arrow) and thoracic compression deformity (B; yellow arrow). After treatment, the patient has a normal spine (A, right panel) and a symmetrical thorax (B, right panel). The patient's arms and chest have a nearly normal appearance, and the back mass has subsided significantly (C).
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case_images: F2
case_images: T2WI showed high signals, which were associated with hemorrhage. The enhancement scan reveals a marked improvement in the cyst wall. The child has scoliosis (red arrow; Figure 2A) and thoracic compression deformity (yellow arrow; Figure 2B). After treatment, the child's thorax changed from a right-sided giant complex vascular malformation with compression and collapse to a left-right symmetrical and basically normal one (Figures 2A,C); the scoliosis deformity improved significantly (Figures 2B,C). Upon undergoing mass excision and sclerotherapy, the volume of lipomatous hyperplasia was reduced (Figure 2C).
case_images: Surgery-related photographs of our patient. Preoperative frontal, lateral, and dorsal photographs of the patient (A-C). Intraoperative demonstration of the trunk mass as an adipose tissue-encapsulated giant lymphatic malformation (D) Excised trunk mass (E) Sclerotherapy with methylene blue tracing and lymphatic fluid extraction (F,G). Frontal, lateral and dorsal photographs of the patient after resection of the trunk mass combined with sclerotherapy (H-J).
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case_images: F3
case_images: Figure 3 presents the pre and post-operative photographs of the patient's initial trunk mass resection coupled with sclerotherapy intervention, along with intraoperative images. The basic procedure of sclerotherapy is as follows (Figures 3D-E): puncture with a syringe attached to an injection needle in the lesion area, retraction of lymphatic fluid in the lesion and injection of anhydrous alcohol solution at multiple sites. Subsequent to two treatments, a considerable reduction in the vascular deformity of the child's right upper limb was observed (Figures 3A vs. During the operation, after removing up to the deep fascial layer, large malformed lymphatic vessels could be visualized (Figure 3F).