Search results for "Hamartoma"
showing 8 items of 28 documents
Register and clinical follow-up of patients with Peutz-Jeghers syndrome in Valencia
2020
Introduction and aims: Peutz-Jeghers syndrome is a rare autosomal dominant inherited disease caused by a germline mutation of the STK11/LKB1 gene, located on chromosome 19p13.3. It is characterized by mucocutaneous hyperpigmentation, hamartomatous polyposis, and predisposition to cancer. The aim of the present study was to identify and register patients with Peutz-Jeghers syndrome, describe the disease, and estimate its prevalence in Valencia (Spain). Materials and methods: A print-out of the clinical histories from 10 hospitals was obtained utilizing the ICD-9 code 759.6 from the Minimum Basic Data Set of Hospital Admissions of the Spanish Ministry of Health and Consumer Affairs. Results: …
Management of Renal Angiomyolipoma: A Report of 14 Cases and Review of the Literature
1994
14 patients with renal angiomyolipoma are presented. Two of them had tuberous sclerosis (TS) with synchronous bilateral and multiple tumors. Two other patients without TS also had multiple tumors in 1 kidney. More than half the patients were symptomatic (n = 8), 2 of them with spontaneous rupture of the tumor. Misdiagnosis, spontaneous rupture and tumor growth can be prevented by utilizing conservative, organ-sparing techniques. In cases of solitary kidneys with large and/or hemorrhagic angiomyolipoma, superselective arterial embolization is indicated.
Síndrome de Cowden: a propósito de una familia afectada
2006
El síndrome de Cowden es una rara genodermatosis caracterizada por múltiples hamartomas ubicados en tejidos y órganos diversos derivados de las tres hojas embrionarias. Las manifestaciones clínicas de la enfermedad de Cowden se explican especialmente por la mutación de un gen supresor tumoral, el PTEN cuyo cambio induce al crecimiento incoordinado de los tejidos. La importancia de esta enfermedad radica en la tendencia a la malignización de algunas de sus lesiones especialmente las de mama, tiroides y tracto génito-urinario. Esto ha determinado que se la considere como una entidad preneoplásica. A pesar de su variada expresión fenotípica esta entidad es generalmente desconocida. Esto determ…
Cowden's syndrome diagnosed through oral lesions : a case report
2021
Cowden's syndrome (CS), also known as multiple hamartoma syndrome, is a rare autosomal dominant genodermatosis first described in 1963. It has a high penetrance in both sexes and variable phenotypes. Its origin is a PTEN (phosphatase and tensin homologue) gene mutation and affects multiple organs of endodermal, ectodermal, and mesodermal origin, resulting in the development of hamartomatous mucocutaneus lesions and an increased risk for malignancies in breast, thyroid, endometrium, kidney, colon, rectum, among other organs. The diagnosis of CS is based mainly on clinical findings and oral cavity manifestations are frequent, occurring in 80-90% of patients. This include oral and labial papil…
Hepatic mesenchymal hamartoma in a preterm newborn: demonstration by low-dose multidetector CT.
2007
Primary liver tumours are very rare in the neonatal period. Differential diagnoses include haemangioendothelioma, malignant hepatoblastoma and mesenchymal hamartoma. Due to non-specific clinical symptoms and indecisive imaging findings, correct diagnosis may be difficult to establish. We report a female preterm newborn who was delivered at 33 weeks of gestation and in whom ultrasonography (US) revealed a large cystic intraabdominal tumour of unknown origin. For further evaluation, contrast-enhanced multidetector computed tomography (CT) was performed on the 4th day of life using a low-dose protocol (80 kVp, 50 mAs, collimation 0.75 mm, total effective dose 3.6 mSv). Based on CT findings, di…
The starry sky liver: multiple biliary hamartomas on MR cholangiopancreatography
2018
The starry sky liver: multiple biliary hamartomas on MR cholangiopancreatography
Pseudomelanome der Aderhaut
2007
BACKGROUND: The aim of this study was to evaluate what are the most frequent ocular diseases that were suspected for choroidal melanoma (”pseudo melanoma”). PATIENTS AND METHODS: The data of all patients who were seen in the University Hospital of Mainz under the suspicion of choroidal melanoma between 1.1.1994 and 1.1.2004 and underwent ultrasound examination, fluorescein angiography or fundus photography, were analysed retrospectively. Among 458 examined eyes a choroidal melanoma was diagnosed in 212 cases. In 246 cases the diagnosis was “pseudomelanoma”. RESULTS: The most frequent ocular diseases suspected for choroidal melanoma were “suspicious nevi” in 31 % of the cases and “disciforme…
Prevalencia, búsqueda y registro clínico asistencial de pacientes con síndrome de Peutz Jeghers en Valencia
2022
El síndrome de Peutz Jeghers es una enfermedad rara de herencia autosómica dominante causada por una mutación germinal del gen STK11/LKB1, que codifica para una proteína serina/treonina/kinasa. Consiste en poliposis hamartomatosa intestinal y extraintestinal, predisposición al cáncer e hiperpigmentación mucocutánea. Se asocia a complicaciones como dolor abdominal, sangrados gastrointestinales, anemia, prolapso y ulceración de los pólipos, obstrucción e invaginación intestinal. No existe ningún tratamiento específico, solamente la adecuada instauración de protocolos. Se incluyeron pacientes que habían acudido a 10 hospitales de la provincia de Valencia, utilizando el Conjunto Mínimo de Base …