PMC8195744_01
External clinical manifestations of tuberous sclerosis in the patient. (A) Facial angiofibromas in a classic butterfly pattern, adenoma sebaceum. Also seen is a typical forehead fibrous plaque, often seen as an early sign of tuberous sclerosis. (B) Multiple hypomelanic macules on the right lower limb, also known as ash leaf spots, caused due to lack of melanin. (C) Similar hypomelanic macule on the anterior chest wall. (D) Ungual fibroma/Koenen's tumor present on the left 3rd toe.
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F1
The child was well built with a visible shagreen patch, ash leaf macules, periungual fibromas, and hypomelanotic patches (Figure 1).
(A, B) Ultrasound images of the left kidney reveal multiple elongated echogenic focal lesions close to the cortex, suggesting angiomyolipomas. Note the mass from the lower pole (m).
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F2
An abdominal ultrasound revealed multiple well-defined elongated echogenic focal lesions close to the cortex in the right and left kidney, suggesting multiple angiomyolipomas, largest being 1.4 x 1.2 cm in size and a separate mass arising from the lower pole of the left kidney (Figure 2).
Images of (A) axial and (B) coronal CECT of the abdomen reveal exophytic heterogeneously enhancing solid mass (arrow) arising from the left kidney. The mass has no fat component in it.
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F3
Alongside, a 11 x 10 x 9 cm heterogeneously enhancing exophytic solid mass was seen arising from the lower pole of the left kidney causing mild left ureteric compression and mild hydroureteronephrosis (Figure 3).
Histopathological findings of epithelioid angiomyolipoma. (A) Section from the mass shows a tumor predominantly composed of polygonal cells with focally present thick vessels and interspersed fat cells (hematoxylin and eosin x 40). (B) The tumor cells are predominantly epithelioid (polygonal), arranged in a nesting pattern (hematoxylin and eosin x 100). Inset comprised a high magnification image of tumor where tumor cells show moderate to abundant and clear to granular eosinophilic cytoplasm with distinct cytoplasmic boundries (hematoxylin and eosin x 200). (C) The tumor also shows large areas of necrosis. The surrounding tumor cells show moderate nuclear atypia and prominent nucleoli (hematoxylin and eosin x 200). (D) Tumor cells are immunopositive for HMB45 (x 200).
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F4
On immunohistochemistry, the tumor cells were immunopositive for HMB45, Melan A, and S100 (Figure 4).