Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder affecting 1/ 3000 individuals and caused by Single Nucleotide Variants (SNVs), deletions and duplications affecting the NF1 gene. Vascular lesions of medium and large size arteries and veins are a well recognized, albeit rare, manifestation of NF1. We report an adult patient retrospectively diagnosed (clinically and molecularly) with NF1 after surgery for a ruptured abdominal aortic aneurysm and renal failure. The 37 year old female patient was admitted for emergency surgery due to a ruptured abdominal aortic aneurysm, renovascular hypertension and renal failure. The other clinical manifestations of NF1 included multiple café-au-lait macules, axillary fleckling, multiple cutaneous neurofibromas, and an external vaginal plexiform neurofibroma. Genomic DNA from peripheral blood was analyzed by Next Generation Sequencing (NGS) and Chromosomal Microarray Analysis (CMA). NGS did not reveal a pathological SNV for the NF1 gene but the CMA revealed a novel duplication covering exons 19-27. To our knowledge, very few cases with partial NF1 gene duplications have been reported so far. In addition, our patient presented also an abdominal aortic aneurysm. The rare presentation of cases with NF1 vasculopathy could be due to an underappreciation of its recurrence.

Kaposi sarcoma (KS) is an angioproliferative disorder affecting the skin or internal organs and is caused by human herpes virus 8 (HHV8). Four clinical variants have been recognized: classical, African endemic, AIDS-related, and KS caused by iatrogenic immunosuppression. The latter occurring more likely in patients with acquired immunodeficiency syndrome (AIDS) and those undergoing immunosuppressive treatments for organ transplant. However, few studies are related to iatrogenic KS occurring in patients other than organ transplant ones. Although it is unusual that KS occurs in patient with corticosteroids (CS), the hypercortisolism is thought to be associated with development of KS, with spontaneous regression of lesions usually occurring after discontinuation of glucocorticoid therapy, when it possible. Moreover, it can present a therapeutic dilemma, as decreasing the level of immunosuppression may lead to organ rejection in the case of organ transplant recipients, or organ damage in the case of patients with autoimmune disorders. We report a case of a 67 years old HIV-negative man treated by oral corticosteroids and methotrexate for a rheumatoid arthritis who developed an iatrogenic Kaposi’s sarcoma.

Ovarian vein thrombosis (OVT) is a rare, potentially severe complication of the postpartum. Its diagnosis is often difficult due to its misleading clinical presentation. We report the observation of a 38-year-old patient who presented a right iliac fossa pain with fever at ninth day of cesarean section. The diagnosis of OVT was established by the abdominopelvic CT scan. The patient was treated with antibiotic and anticoagulant with an improvement of her state.

A mass in umbilical cord hernia is a rare clinical presentation in neonates. Here a case of heterotopic liver within the hernia of umbilical cord in a one day old newborn. The baby was born in 38 weeks gestation, and weighed 3.200 kg at birth. He presented with a congenital protruding umbilical cord containing a solid mass measuring 2.8 cm in its greatest dimension. Abdominal ultrasonography found no connection with the visceral organ. The histology of the solid lesion consisted of epithelial cells, which were laid as plates or cords and separated by a thin vascular channel. This has given it a similar morphology of hepatocytes. This is extremely rare and we are reporting this case of ectopic liver as new presentation. The aim of our case presentation is to draw medical society attention to this possible pathological variation and the surgical treatment of this condition