Diagnostic challenges of primary diffuse leptomeningeal melanomatosis in early adolescence: A case report.

Introduction: Primary diffuse leptomeningeal melanomatosis is an extremely rare variant of primary melanoma of the central nervous system. It is characterized by a variety of nonspecific clinical, radiological, and histopathological features requiring differential diagnosis from a variety of diseases. Here, we aimed to use our own clinical case as an example of the difficulties in the diagnosis of this disease.

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).

Epidermolysis bullosa (EB) is an inherited mechano-bullous disorder of the skin, and is divided into three major categories: EB simplex (EBS), dystrophic EB, and junctional EB (JEB). Mutations in the plectin gene (PLEC1) cause EBS associated with muscular dystrophy, whereas JEB associated with pyloric atresia (PA) results from mutations in the alpha6 and beta4 integrin genes. In this study, we examined three EB patients associated with PA from two distinct families.

Complete hydatidiform mole in a triplet pregnancy coexisting two viable fetuses: case report and review of the literature.

We report a rare case of a complete hydatidiform mole with two or more coexisting fetuses where both infants survived without complications. A male infant weighing 1258 g and a female infant weighing 880 g were delivered without complications and discharged 95 days after the birth. The analysis of DNA microsatellite polymorphisms indicated that the mole was of paternal origin and probably homozygous.