Total gastrointestinal endoscopy in the management of Peutz-Jeghers syndrome.
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Peutz-Jeghers syndrome was diagnosed in a 51-year-old woman presenting with iron deficiency anaemia. Upper gastrointestinal endoscopy and colonoscopy revealed several hamartomatous polyps in the stomach, duodenum and colon, which were removed. At a combined surgical-endoscopic procedure, 42 hamartomatous polyps were removed from the small intestine by snare polypectomy. This enteroscopic procedure reduces symptoms, may protect against future intestinal obstructive episodes and their associated surgery, and may reduce the risk of developing gastrointestinal malignancy. (+info)
Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot.
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The gonadotropin releasing hormone (GnRH) secreting hypothalamic hamartoma (HH) is a congenital malformation consisting of a heterotopic mass of nervous tissue that contains GnRH neurosecretory neurons attached to the tuber cinereum or the floor of the third ventricle. HH is a well recognised cause of gonadotropin dependent precocious puberty (GDPP). Long term data are presented on eight children (five boys and three girls) with GDPP due to HH. Physical signs of puberty were observed before 2 years of age in all patients. At presentation with sexual precocity, the mean height standard deviation (SD) for chronological age was +1.60 (1.27) and the mean height SD for bone age was -0.92 (1.77). Neurological symptoms were absent at presentation and follow up. The hamartoma diameter ranged from 5 to 18 mm and did not change in six patients who had magnetic resonance imaging follow up. All patients were treated clinically with GnRH agonists (GnRH-a). The duration of treatment varied from 2.66 to 8.41 years. Seven of the eight children had satisfactory responses to treatment, shown by regression of pubertal signs, suppression of hormonal levels, and improvement of height SD for bone age and predicted height. One patient had a severe local reaction to GnRH-a with failure of hormonal suppression and progression of pubertal signs. It seems that HH is benign and that GnRH-a treatment provides satisfactory and safe control for most children with GDPP due to HH. (+info)
Colonic hamartoma development by anomalous duplication in Cdx2 knockout mice.
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To determine the biological role of caudal-like homeobox gene CDX2, we constructed knockout mice in which its mouse homologue Cdx2 was inactivated by homologous recombination, placing a bacterial lacZ gene under the control of the Cdx2 promoter. Although the homozygous mutants died in utero around implantation, the heterozygotes were viable and fertile and expressed lacZ in the caudal region in early embryos and in the gut tissues in adults. The heterozygotes developed cecal and colonic villi by anteriorization and formed hamartomatous polyps in the proximal colon. The hamartoma started to develop at 11.5 days of gestation as an outpocket of the gut epithelium, which ceased to express the remaining Cdx2 allele. The outpocket then expanded as a partially duplicated gut but was contained as a hamartoma after birth. In adult mice, these hamartomas grew very slowly and took a benign course. None of them progressed into invasive adenocarcinomas, even at 1.5 years of age. Whereas the cecal and colonic villi expressed lacZ, the hamartoma epithelium did not, nor did it express Cdx2 mRNA from the wild-type allele. However, genomic DNA analysis of the polyp epithelium did not show a loss of heterozygosity of the Cdx2 gene, suggesting a mechanism of biallelic Cdx2 inactivation other than loss of heterozygosity. These results indicate that the Cdx2 haploin-sufficiency caused cecal and colonic villi, whereas the biallelic inactivation of Cdx2 triggered anomalous duplications of the embryonic gut epithelium, which were contained as hamartomas after birth. (+info)
Solid mesenchymal hamartoma of the liver in adult.
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This paper presents an unusual solid mesenchymal hamartoma of the liver (MHL) in adult. A well defined solid mass in the left lobe of the liver was found in a 57-year-old female. Preoperative radiologic examinations demonstrated solid mass with multifocal calcifications abutting the gallbladder. By light microscopy, the lesion was composed of dense fibrous stroma with hyalinization, bile ducts and thick-walled vessels without hepatocytes. The solid and hyalinized mesenchymal component would suggest an unusual degenerative change representing a burnt-out MHL. (+info)
Midline spinal cord hamartomas: MR imaging features of two patients.
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Congenital midline spinal hamartomas are relatively rare. Patients harboring this anomaly are generally asymptomatic, but present with an overlying skin anomaly. MR imaging depicts a mass that is isointense with the spinal cord on all sequences, and may show a dermal sinus tract that tethers the cord at the level of the lesion. We report the MR features of congenital midline spinal hamartoma in two children. (+info)
Pallister-Hall syndrome: clinical and MR features.
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A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of Pallister-Hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for clinical diagnosis but also for appropriate management and genetic counseling. (+info)
A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus.
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White Sponge Nevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and "spongy" plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Mutations in keratin 4 (K4) and keratin 13 (K13) genes have already been demonstrated to be responsible for WSN; the identification of new keratin mutations in a stratified squamous epithelia closely related to epidermis is of relevance for the understanding of the biochemistry of intermediate filaments, and for genotype phenotype correlations. In this study we investigated a 27-y-old, female Italian patient, affected by white asymptomatic oral plaques. Sequence analysis revealed a 3 bp (ACA) heterozygous insertion localized in the helix initiation motif of the 1A alpha helical domain of K4. We report this new K4 gene mutation and describe an amino acid insertion, in the 1A domain, responsible for a keratin disease. (+info)
Cutaneous hamartoma of the hand: MR imaging findings.
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We report two cases of magnetic resonance imaging of the cutaneous hamartoma on the hand, which is a rare benign soft tissue tumor. (+info)