PMC9593110_01
(a) Chronological development of clinical features of the case; (b) Ungual fibromas; (c and d) Bone changes - hypertrophic digitus medius of the right hand with disorganized structure of the medius phalanges, thick bones cortex, osseous cysts, and periosteal apposition of the right forearm long and small bones; (e) Shagreen patch; (f) Calcified SENs and occipital tuber; (g) Right SEGA; (h) Bilateral cortical tubers and right SEGA. ASD: Autism spectrum disorder; LGS: Lennox-Gastaut syndrome; SEGA: Subependymal giant cell astrocytoma; SEN: Subependymal nodule; SY: Syndrome; TSC: Tuberous sclerosis complex
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F1
Bone changes (hypertrophic digitus medius of the right hand, with disorganized structure of the phalanges, thick bones cortex, osseous cysts, and periosteal apposition of the right forearm long and small bones) were noted starting around the age of four years (Figure 1a,1b,1c,1d,1e,1f,1g,1h).
(a and b) Brachial artery aneurysm: clinical progression (one year apart); (c-f) Preoperatory MRI with contrast agent showing massive saccular (5.5/6 cm) dilatation of middle part of brachial artery and destruction of surrounding tissue. MRI: Magnetic resonance imaging
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F2
Patient developed a growing tumor in the right arm starting at the age of 13 (Figure 2, a and b). Right arm MRI with Gadolinium and further angiography showed a giant aneurysmal dilatation of the brachial artery and important surrounding soft tissue changes secondary to local ischemia (Figure 2c,2d,2e,2f).
(a) Angiography at one year after surgery for brachial aneurysm shows a second aneurysm - subclavian artery; (b) Same aneurysm after ligature (partial resection)
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F3
Angiographic checkup after one year showed a second murine aneurysm at the right subclavian level (Figure 3a). Ligature and partial resection of the aneurysm were performed (Figure 3b).
(a) Markedly thickened fibrous aneurysmal wall; (b) Middle tunic of the vascular wall with markedly disorganized arrangement of the collagen fibers; (c) Large deposits of fibrin in the intimate tunic of the vascular wall; (d) Medium tunic elastic fibers, disorganized and fragmented by overdeveloped collagen fibers, with no visible continuous elastic layer; (e) Smooth muscle fibers proliferation in the middle tunic of the vascular wall, fragmented by collagen fibers, arranged in islands; (f) Microscopic image from the outer tunic of the vascular wall, which shows the presence of many blood vessels, including angiogenesis vessels. HE staining: (a-c) x100. van Gieson staining: (d) x100. Immunostaining with anti-alpha-SMA antibody: (e) x100. Immunostaining with anti-CD34 antibody: (f) x100. alpha-SMA: Alpha-smooth muscle actin; CD34: Cluster of differentiation 34; HE: Hematoxylin-Eosin
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F4
Proliferation of small (neoformation) vessels in the outer tunic of the aneurysmal wall was observed (Figure 4a,4b,4c,4d,4e,4f).