Fig. 3: Histological and immunohistochemical findings. | European Journal of Human Genetics

Fig. 3: Histological and immunohistochemical findings.

From: ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches

Fig. 3

Panels A–C depict the specimen resected from mandibula in 2019 from patient 1. De novo bone formation in granulation-like tissue can be appreciated intermixed with small, thin-walled inconspicuous vessels (A). The endothelial cells in the vessel walls express CD31 (B) and have a retained pericyte layer expressing SMA (C), suggesting the presence of mature, capillary like vessels. Panels D, E show a specimen resected from maxilla in 2020 from the same patient. Irregular bone structures (D, E) with small vessels similar to the ones described above are seen. The vessels only have one layer of endothelial cells and a slim vessel wall with retained SMA-expressing pericytes (F). Both lesions give the impression of a reactive process rather than a tumor like lesion.

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