Search results for "Hamartoma"

INTU -related oral-facial-digital syndrome type VI: a confirmatory report

2018

Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD syndromes are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD syndromes have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign. Whole-exome sequencing and SNP array identified compound heterozygous variants in the INTU gene, which encodes a protein involved in the posi…

Multidisciplinary surgical management of Cowden syndrome: Report of a case

2016

Cowden’s Syndrome (CS) is a rare congenital autosomal dominant disorder that affects around 1/200000 patients with an incomplete penetrance and variable expressivity, characterized by alterations in a tumor suppressor gene. A 14-year-old Caucasian male patient came to the attention of the authors complaining of palm nodules, gingival bleeding and painful pedunculated lesions on the lips and on the labial side of anterior sextants. After genetic investigation the final diagnosis of a Cowden Syndrome was made. The lesions were surgically removed under general anesthesia and no clinical signs of recurrence were found three months after surgical excision. Considering the severe symptoms of the …

Recombinations of chromosomal bands 10q24, 12q14-q15, and 14q24 in two cases of pulmonary chondroid hamartoma studied by fluorescence in situ hybridi…

2003

Abstract Pulmonary chondroid hamartomas (PCH) are benign mesenchymal tumors consisting of at least two cytogenetic subgroups. These subgroups are defined by chromosomal alterations at either 12q14∼q15 or 6p21. Cytogenetic analysis of short-term cultures from two PCHs revealed two different rearrangements with 12q14∼q15. One of these had a unique translocation t(12;14)(q14∼15;q24) with presence of two normal chromosomes 12 and a der(14), but missing the der(12). The other showed a complex rearrangement between chromosomes 10 and 12 with two different derivatives. Our data have been confirmed with fluorescence in situ hybridization analysis. These cases represent variant forms of the standard…

Hamartoma of the urinary bladder: case report and review of the literature.

1999

Bladder hamartoma is a rare benign entity with only eight cases reported in the literature thus far, and whose general imaging features have not, to our knowledge, been previously discussed. The purpose of this report is to review the literature and to discuss the imaging findings in one case of bladder hamartoma where US features were those of an inhomogeneous solid mass with an unechogenic center, which was in accordance with the CT findings of a soft tissue mass with central inhomogeneous enhancement due to central necrosis.

A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease

2003

Cowden disease, also known as multiple hamartoma syndrome, is a rare disease inherited in an autosomal dominant pattern, which confers a high risk of developing breast and thyroid carcinomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with Cowden disease. In this work, the direct sequencing of all coding regions of the PTEN gene led us to the identification of N48K, a new germline PTEN missense mutation, in a patient suffering from Cowden disease. The genetic analysis of 200 chromosomes from healthy individuals revealed that the variant was not common in our population. Moreover, by functional analysis we found that the ability o…

Congenital hepatic mesenchymal hamartoma associated with mesenchymal stem villous hyperplasia of the placenta: case report.

2005

A newborn with an unusual association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta is presented. At birth, the large hepatic mass caused severe respiratory distress necessitating early surgical intervention. This report on the association of hepatic mesenchymal hamartoma and mesenchymal stem villous hyperplasia of the placenta strongly suggests a common pathogenetic origin of the 2 lesions.

Cardiovascular magnetic resonance characterization of a hamartoma in an asymptomatic child

2009

Sirolimus treatment of severe PTEN hamartoma tumor syndrome: case report and in vitro studies

2013

Background: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is caused by germ line mutations in the PTEN gene. Symptoms include cancer pre- disposition, immune deviations, and lipomas/lipomatosis. No causal standard therapy is available. We describe a therapeutic attempt with the mammalian target of rapamycin (mTOR) inhibitor sirolimus for a PHTS patient suffering from thymus hyperplasia and lipomatosis. We furthermore assessed the in vitro effects of sirolimus and other inhibitors on lipoma cells of the patient. Methods: The patient underwent clinical and blood examinations and whole-body magnetic resonance imaging to assess tumor sizes. Lipoma cells of the patient we…

Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis

2020

Congenital cystic lesions of the bile ducts represent a spectrum of liver and biliary system lesions, resulting from abnormal embryologic development of the ductal plate. These disorders include Caroli disease, choledochal cysts, autosomal dominant polycystic liver disease, congenital hepatic fibrosis, and biliary hamartomas. Each disorder carries a peculiar clinical presentation, prognosis, and risk of complications. Knowledge of radiological findings of fibropolycystic liver diseases is crucial for their appropriate detection and for differential diagnosis with other similar hepatic cystic lesions, in order to avoid relevant misdiagnosis. The aim of this review is to provide an illustrati…

Fibrous hamartoma of infancy: an Italian multi-institutional experience.

2006

Fibrous hamartoma of infancy: an Italian multi-institutional experience. Carretto E, Dall'Igna P, Alaggio R, Siracusa F, Granata C, Ferrari A, Cecchetto G. Source Division of Paediatric Surgery, Department of Paediatrics, University of Padua, Padua, Italy. Abstract BACKGROUND: Fibrous hamartoma (FH) of infancy is a benign mesenchymal tumor, occurring as a superficial mass. Complete excision is curative. OBJECTIVE AND METHODS: The clinical features and treatment results of 18 children with FH are described. RESULTS: Local excision was the most common procedure. Surgery was radical in 10 patients, with microscopic residual disease in 6; all of them are alive with no evidence of disease 2 to 4…