PMC8381186_01
Skin lesions and facial features characteristic of neurofibromatosis type 1 and acromegaly. (a) Innumerable, tender neurofibromas of about 1 cm in diameter in the abdomen, with a surgical scar resulting from adrenalectomy. (b) Cafe-au-lait spots on the dorsal aspect of the right forearm. (c) Characteristics of neurofibromatosis (freckles around the eyelids and lips) as well as the characteristics of acromegaly (protruding mandibles and eyebrows, and a swollen nose and lips).
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The patient had numerous painful neurofibromas about 1 cm in diameter across her whole body (Fig. 1a) as well as cafe-au-lait spots on the right upper arm (Fig. 1b), thighs, and abdomen. The patient presented with protruding mandibles and eyebrows, a swollen nose and lips (Fig. 1c), and enlarged limbs - clinical features of acromegaly - as well as freckles in the periorbital and perilabial regions (Fig. 1c), axillary freckling, and small Recklinghausen spots on the trunk.
Cervical ultrasonography. (a) A cyst 2 cm in diameter in the right thyroid lobe (arrow). (b) A solid nodule 9 mm in diameter in the right thyroid lobe (arrow). (c) A solid nodule 7 mm in diameter in the left thyroid lobe (arrow). (d) A solid nodule 15 mm in diameter in the lower pole of the left lobe of the thyroid glands (arrow).
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Ultrasonography of the thyroid glands indicated a cyst (Fig. 2a) and a solid nodule (Fig. 2b) in the right lobe and solid nodules in the left lobe (Fig. 2c). Ultrasonography of the neck indicated a solid nodule 15 mm in diameter at the lower pole of the left lobe of the thyroid glands (Fig. 2d).
Cervical computed tomography. (a) Axial tomography image showing a tumor 15 mm in diameter on the dorsal aspect of the lower pole of the left thyroid gland (arrow). (b and c) Axial and coronal images showing a tumor 10 mm in diameter on the left side of the upper mediastinum (arrows). (d) Coronal tomography image showing a tumor 12 mm in diameter at the upper border of the aortic arch (arrow).
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Computed tomography (CT) of the cervicothoracic region showed a tumor 15 mm at the lower pole of the left lobe of the thyroid glands (Fig. 3a), a tumor 10 mm in diameter at the left side of the upper mediastinum (Fig. 3b, c), and a tumor 12 mm in diameter at the upper border of the aortic arch (Fig. 3d).
T1-weighted magnetic resonance imaging of the pituitary gland in the intermediate phase of gadolinium enhancement. A coronal magnetic resonance image showing a tumor 10.9x6.7 mm in size at the adenohypophysis adjacent to the right internal carotid artery (arrow).
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Magnetic resonance imaging (MRI) of the pituitary gland (Fig. 4), which was conducted due to suspicion of acromegaly based on symptoms and blood test results, demonstrated a tumor in the adenohypophysis.
123I-metaiodobenzylguanidine scintigraphy. Scintigrams of the whole body showing no abnormal accumulation of the radioisotope in the cervix or abdomen, indicating the development of neither recurrent pheochromocytoma nor paraganglioma.
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In addition, 123I-metaiodobenzylguanidine scintigraphy of whole body did not reveal any abnormal accumulation of the radioisotope (Fig. 5), indicating the development of neither recurrent pheochromocytoma nor paraganglioma.
Histological and immunohistochemical staining of a somatotroph adenoma of the adenohypophysis. (a) Hematoxylin and Eosin staining showing an eosinophilic adenoma. (b) Immunoreactive growth hormone is diffusely stained in the cell body. (c) CAM5.2 staining showing that perinuclear patterns are more predominant than intracytoplasmic dot patterns. (d) Ki-67-positive cells are scarce, with an MIB-1 index of 0.2%.
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The tumor was resected by endoscopic endonasal transsphenoidal surgery and histologically and immunohistochemically confirmed to be an eosinophilic adenoma with diffuse positivity for GH, indicating a typical somatotroph adenoma (Fig. 6a, b). Cytokeratin immunostaining with CAM5.2 indicated that perinuclear patterns were more predominant than intracytoplasmic dot patterns, which led to the diagnosis of a densely granulated somatotroph adenoma (Fig. 6c). Ki-67-positive cells were scarce, with an MIB-index of 0.2% (Fig. 6d).