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We report the third case in the literature of a hobnail haemangioma with cyclic changes throughout the menstrual cycle in a 36-year-old woman, suggesting a hormonal basis for the variations in the tumour. This patient was under oral contraceptive treatment due to ovarian endometriosis, making the clinical diagnosis difficult.

Microdeletions of 8p23.1 are mediated by low copy repeats and can cause congenital diaphragmatic hernia (CDH) and cardiac defects. Within this region, point mutations of the GATA4 gene have been shown to cause cardiac defects. However, the cause of CDH in these deletions has been difficult to determine due to the paucity of mutations that result in CDH, the lack of smaller deletions to refine the region and the reduced penetrance of CDH in these large deletions. Mice deficient for one copy of the Gata4 gene have been described with CDH and heart defects suggesting mutations in Gata4 can cause the phenotype in mice. We report on the SNP microarray analysis on two fetuses with deletions of 8p23.1. The first had CDH and a ventricular septal defect (VSD) on ultrasonography and a family history of a maternal VSD. Microarray analysis detected a 127-kb deletion which included the GATA4 and NEIL2 genes which was inherited from the mother. The second fetus had an incomplete atrioventricular canal defect on ultrasonography. Microarray analysis showed a 315-kb deletion that included seven genes, GATA4, NEIL2, FDFT1, CTSB, DEFB136, DEFB135, and DEFB134. These results suggest that haploinsufficiency of the two genes in common within 8p23.1; GATA4 and NEIL2 can cause CDH and cardiac defects in humans.

During the past few years, meaningful progress has been achieved in our understanding of the pathophysiology of preterm premature rupture of membranes. In addition, more evidence has been presented in favor of induction and delivery for rupture between 34 and 37 weeks and expectant management for rupture before 34 weeks. New approaches are being suggested to complement expectant management. The purpose of this article is to review this recent information about the pathophysiology and management of women with preterm premature rupture of membranes.

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