Subject(s)
Gastrointestinal Hemorrhage , Hemostatics , Powders , Self Expandable Metallic Stents , Humans , Gastrointestinal Hemorrhage/etiology , Gastrointestinal Hemorrhage/therapy , Hemostasis, Endoscopic/methods , Hemostasis, Endoscopic/instrumentation , Hemostatics/administration & dosage , MineralsABSTRACT
The term "juvenile-like (inflammatory/hyperplastic) mucosal polyps" (JLIHMP) has been recently introduced to describe a spectrum of polypoid lesions in patients with neurofibromatosis type 1 (NF-1). Due to the scarce number of reported cases and histopathological similarities with entities such as sporadic/syndromic juvenile polyps or inflammatory fibroid polyps, this entity remains a subject of debate. We describe herein a case of multiple JLIHMPs in a patient with NF-1, and we document the presence of low-grade dysplasia within one of these polyps.
Subject(s)
Neurofibromatosis 1 , Polyps , Female , Humans , Hyperplasia/pathology , Inflammation/pathology , Neurofibromatosis 1/pathology , Neurofibromatosis 1/complications , Neurofibromatosis 1/diagnosis , Polyps/pathology , AgedSubject(s)
Colorectal Neoplasms , Rectum , Humans , Constriction, Pathologic/surgery , Rectum/surgery , Endosonography , StentsABSTRACT
Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwide. By using whole-genome oligonucleotide array CGH, we have identified deletions at 13q32.1 segregating with MCOR in six families originating from France, Japan, and Mexico. Breakpoint sequence analyses showed nonrecurrent deletions in 5/6 families. The deletions varied from 35 kbp to 80 kbp in size, but invariably encompassed or interrupted only two genes: TGDS encoding the TDP-glucose 4,6-dehydratase and GPR180 encoding the G protein-coupled receptor 180, also known as intimal thickness-related receptor (ITR). Unlike TGDS which has no known function in muscle cells, GPR180 is involved in the regulation of smooth muscle cell growth. The identification of a null GPR180 mutation segregating over two generations with iridocorneal angle dysgenesis, which can be regarded as a MCOR endophenotype, is consistent with the view that deletions of this gene, with or without the loss of elements regulating the expression of neighboring genes, are the cause of MCOR.