Continuation of a twin pregnancy with CHMF is an acceptable option. There is, however, an increased risk of developing pre-eclampsia and fetal loss due to miscarriage. The chance of a live term birth is <50% with nearly 33% of the mothers developing persistent gestational trophoblastic disease after delivery. Thus, close surveillance of an ongoing twin pregnancy with CHMF is mandatory to detect potential early signs of maternal and fetal complications.
The simultaneous appearance of epidermolysis bullosa and pyloric atresia (EB-PA) is recognized as an autosomal recessive disease; however, the coappearance of EB-PA and aplasia cutis congenita (ACC) has not been delineated as a defined entity. The aim of this study was to analyze clinically and histopathologically eight cases with EB-PA-ACC belonging to an extended Bedouin family to gain insight into the cause and pathophysiology of the disease. All affected infants were found to have mixed skin lesions, including blisters and patchy lack of skin. Almost all of them (seven of eight) also had intestinal obstructions, especially pyloric atresia or stenosis. Skin lesions involved all skin layers with marked dystrophic changes. The intestinal obstruction was the result of overproliferation of connective tissue. In view of the clinical and histopathological findings, it is postulated that the condition is caused by an autosomal recessive gene affecting the integrity of the basement membrane and hemidesmosomes and the control of the normal process of fibrosis occurring during the course of wound healing. The sequence of events is initiated by the separation of the epidermis or the intestinal mucosal layer. Then, inflammatory reaction takes place and proceeds with massive fibrosis penetrating the deep layers and causing damage of skin and obstruction of the intestinal lumen. In view of the recent findings regarding the molecular basis of EB-PA, the described phenotype may result from a mutation in one of the integrin genes.
Placental ALP (ALP(h)) is a membrane-anchored, heat-stable enzyme produced by the syncytiotrophoblast. We report a case of a patient presenting in the third trimester with extreme increased levels of ALP(h). A 40-year-old woman, gravida 2, para 1, was admitted to the high risk pregnancy unit at 30 weeks of gestation for evaluation of an incidental finding of marked isolated elevation in serum ALP(h). Blood tests obtained at admission revealed a marked elevation of serum ALP level up to 1,194 u/l (reference 35-104 u/l). At 36 weeks of gestation, the patient was admitted with preterm premature rupture of membranes. Due to breech presentation, a cesarean delivery was performed. An immunoperoxidase stain was done for placental alkaline phosphatase, which was positive in the majority of chorionic trophoblastic cells. No evidence of inflammation was detected in the placental chorionic plate. Thus, isolated elevation in placental ALP may be linked to a subsequent preterm delivery.
Peripheral primitive neuroectodermal tumors (PNET) are extremely uncommon, malignant neoplasms affecting mostly children and young adults. We retrospectively reviewed the clinical data and radiological studies of four such cases. All cases were pathologically proven. Plain films, US, and CT scans were used. The youngest child had a huge pelvic tumor and two adolescents each had a chest wall (Askin) tumor. The fourth patient had a most unusual location of the PNET in the anterior mediastinum. The CT findings are emphasized. We emphasize that the markedly abnormal CT findings are not specific for PNET.
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