Search results for "Hamartoma"
showing 10 items of 28 documents
Chromatic-achromatic perimetry in four clinic cases: Glaucoma and diabetes
2015
Color perimetry has interesting clinical application for the diagnosis and detection of certain eye conditions, due to the variations that certain diseases can cause in chromatic thresholds, both in the red-green (RG) and the blue-yellow (BY) pathways.[1,2,3,4] The separate study of the visual function of both the chromatic and achromatic mechanisms could be more efficient in detecting sensitivity variations, and such variations would not be obscured by the intrusion of other mechanisms. Currently, the supply of conventional perimeters that are capable of performing a chromatic perimetry test is very limited and with reduced options regarding the possibility of choosing the physical charact…
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
2012
Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malformations in OFD VI have been described as a molar tooth sign (MTS), thus, including OFD VI among the "Joubert syndrome related disorders" (JSRD). OFD VI diagnostic criteria have recently been suggested: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of hands or feet; 3) hypothalamic hamartoma. In order to further delineate this rare entity, we present the neuro…
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol
2013
PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth syndromes associated with germ-line mutations in the tumor suppressor PTEN gene located on 10q23.3. It is widely accepted that two of these disorders, Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, are allelic conditions. Because PTEN mutations are not identifiable in every case of the PHTS phenotype, the inability to detect a mutation within the PTEN gene does not invalidate the clinical diagnosis of Cowden syndrome, or Bannayan-Riley-Ruvalcaba syndrome, in patients who meet diagnostic criteria for these disorders. PTEN mutations are associated with an increased risk for developing breast, thyroid, end…
Response to Stanich et al.: Correspondence regarding-PTEN hamartoma tumor syndromes in childhood-Description of two cases and a proposal for follow-u…
2014
The follow-up protocol, which we describe in this study can serve as a practical proposal for clinicians, and as a basis for future studies. We strongly urge the clinician to start an early surveillance of the gastrointestinal tract including regular endoscopy. The main management goals in PHTS patients are to detect colon cancer early, and to prevent polyp-related complications (bowel obstruction from intussusception). The presence of multiple nonmalignant polyps in patients with PTEN mutations may complicate noninvasive methods of colon evaluation [Tan et al., 2012]. In addition, there is a high variability in severity of polyps progression, and the malignant potential of these lesions is…
Sinonasal respiratory epithelial adenomatoid hamartoma: A report on three cases
2018
Respiratory Epithelial Adenomatoid Hamartoma (REAH) is a rare benign lesion that may occur in the nasal cavity and paranasal sinuses. Histology is essential for the differential diagnosis with other lesions that could affect the sinonasal region. Our report focuses on three cases of male patients that were 46, 66 and 73 years old, diagnosed with REAH of the sinonasal region. All cases presented a nasal obstruction and hyposmia, and in one case cephalalgia. The definitive diagnosis of REAH was supported by the endoscopic, radiological and histological examinations. The patients underwent surgical excision with an endoscopic approach and did not experience a local recurrence at the time of wr…
Cardiovascular magnetic resonance characterization of a hamartoma in an asyntomatic child
2009
Abstract Background The prevalence of primary cardiac neoplasms is approximately 0.3% and these masses should be distinguished from many of other primary and secondary processes that can occur in the heart. Further assessment of the left ventricular mass presents important clinical implications. Cardiovascular magnetic resonance was used. Clinical case An asyntomatic 12-year-old child was referred for cardiovascular magnetic resonance imaging to further assess a left ventricular mass found after an echocardiography, executed for assessment for sport activity. His past medical history was absolutely negative. The patient was in optimal state of health. The EKG showed an aspecific ST elevatio…
Hamartoma of the triceps surae muscle.
1997
A 9-year-old, otherwise healthy girl presented with a 5-year history of pain in her right calf with retarded growth and development of an equinus contracture of her right leg. Magnetic resonance imaging showed an irregular mass with heterogeneous enhancement after contrast in her right triceps surae muscles, especially the soleus. Histological studies of this triceps surae muscle tissue revealed a haphazard distribution of adipose and connective tissue, striated and smooth muscle cells, vessels and lymphoid follicles, as well as nerve bundles which, together, were considered components of a hamartoma.
Evidence for developmental precursor lesions in epilepsy-associated glioneuronal tumors
1999
The etiology and pathogenesis of epilepsy-associated local lesions remain largely unknown. Histopathologically, the most frequent lesions comprise gangliogliomas and glioneuronal malformations, i.e., hamartias or hamartomas, with a preferred location in the temporal lobe of young patients. A characteristic histopathological admixture of glial and neuronal elements, the focal appearance and the benign clinical behaviour suggest a malformative nature. So far, no molecular genetic alterations specifically involved in the pathogenesis of these glioneuronal lesions have been identified. However, immunohistochemical analysis revealed distinct distribution patterns of oncofetal antigens. The embry…
Respiratory epithelial adenomatoid hamartoma: An unusual case report
2020
Respiratory epithelial adenomatoid hamartoma is a rare lesion of the nasal cavity whose etiology and pathogenesis are unknown and symptoms are unspecific. It can be isolated or associated with inflammatory process, first of all nasal polyposis. It’s considered a rare lesion because it’s poorly known and consequently correctly diagnosing is important to a right surgical treatment and follow-up. A 54-year-old man presented with a 10-year history of epistaxis, rhinorrhea and anosmia. Computed tomography showed soft tissue densities in all sinus cavities consistent with nasal polyposis and without bilateral widening of the olfactory cleft >10 mm and without bone erosion. Functional endoscopi…
Inflammatory and tumor-like lesions of the pancreas
2020
Summary Inflammatory/tumor-like lesions of the pancreas represent a heterogeneous group of diseases that can variably involve the pancreatic gland determining different signs and symptoms. In the category of inflammatory/tumor-like lesions of the pancreas, the most important entities are represented by chronic pancreatitis, which includes alcoholic, obstructive and hereditary pancreatitis, paraduodenal (groove) pancreatitis, autoimmune pancreatitis, lymphoepithelial cyst, pancreatic hamartoma and intrapancreatic accessory spleen. An in-depth knowledge of such diseases is essential, since they can cause severe morbidity and may represent a potential life-threatening risk for patients. Furthe…