J Pathol Transl Med.  2022 May;56(3):167-169. 10.4132/jptm.2021.03.24.

Vascular Ehlers-Danlos syndrome with distinct histopathologic features

• Hwang HS
• Song JW
• Jang SJ

• KMID: 2529809
• DOI: http://doi.org/10.4132/jptm.2021.03.24

Figure

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  Fig. 1. Radiological and pathological features of the present case. (A) Chest computed tomography, performed after the patient’s second episode of spontaneous pneumothorax, showing a parenchymal cystic lesion with an irregularly thickened cavity wall and surrounding ground-glass opacity (arrow). Several ill-defined nodular opacities with adjacent ground-glass opacities, predominant in the basal lungs, were identified (arrowheads). (B) Photomicrogram of the surgical lung biopsy specimen showing multifocal intra-alveolar accumulations of red blood cells and fibro-osseous nodules. (C) Magnified photomicrogram revealing intra-alveolar collections of red blood cells and hemosiderin-laden macrophages. (D, E) Magnifications of a parenchymal fibro-osseous nodule in the background of parenchymal hemorrhage. (F) Sanger sequencing test for the COL3A1 gene of the patient, showing a heterozygous pathogenic germline mutation (empty arrow) at the spliceosome acceptor site in intron 23 of the COL3A1 gene (black line) (COL3A1 c. 1662+1G>A [p. Gly537_Pro554del]).

Reference

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