Suspected involvement of the X chromosome in placental mesenchymal dysplasia

So far, 46 cases of placental mesenchymal dysplasia have been reported worldwide. We encountered 15 cases of placental mesenchymal dysplasia (PMD) including 7 cases delivered in our hospital. The incidence of PMD in our hospital was therefore, 7/30,758 (0.02%). The PMD had a peculiar appearance. In the gross findings, large placenta with intestine-like dilatation of the vessels on the fetal side was reported. Microscopically, cistern-like dilatation of the stem villi, fetal artery thrombosis, and villous hemorrhage were reported. However, we believe most of these findings are secondary rather than the primary of mesenchymal dysplasia. Therefore, we investigated 15 other cases of mesenchymal dysplasia, and found including vascular abnormality of the stem, intermediate and terminal villi in all case of PMD. The abnormality was observed in the vessels of the periphery of the stem villi and their vessel walls were thin and appeared weak. The intermediate villous vessels were unusual, tangled. The terminal villous abnormalities showed chorangiosis and stromal hyperplasia. These findings are mesenchymal dysplasia origin. Moreover, PMD showed female-predominant. 14/15 was female among our cases, We discuss the relationship between mesenchymal dysplasia and the X chromosome in this paper.