Hamartoma Research Articles

Recombinant Tissue Plasminogen Activator Use in an Acute Stroke Patient With Tuberous Sclerosis

Tuberous sclerosis (TS) is an autosomal dominant disease known for over a century and recognized by characteristic hamartomatous lesions involving any organ. In this report, we are presenting a patient with TS who presented with acute embolic stroke and received tissue plasminogen activator (tPA) and had a mechanical thrombectomy (MT). She had a dramatic response without any hemorrhagic complications. She is a 68-year-old Caucasian woman with the past medical history of TS since childhood who presented to the hospital with symptoms of left middle cerebral artery (MCA) syndrome (right-sided weakness, sensory loss, right facial droop, aphasia, hemianopia, and dysarthria). National Institute of Health Stroke Scale (NIHSS) score was 19. Head computed tomography (CT) was negative for any acute abnormality except cortical tubers, subependymal ventricular calcification. CT angiography of the head and neck showed proximal occlusion of the left internal carotid artery. After ruling out all exclusion criteria, the patient received tPA and had an MT with complete reperfusion (thrombolysis in cerebral infarction (TICI) 3). Brain magnetic resonance imaging (MRI) showed an acute stroke in the multivessel territories (bilateral parietal cortices, the left lentiform nucleus, medial left temporal lobe, left thalamus, and right occipital lobe) suggestive of an embolic phenomenon and did not show any hemorrhagic complication. TS patients are at increased risk of intracerebral hemorrhage either in the setting of vascular malformation or due to hemorrhage into the subependymal giant cell astrocytoma. The best explanation for the latter could be secondary to elevated venous pressure from increased intracranial pressure. Fortunately, our TS patient who presented with acute ischemic stroke was within the window and received tPA and MT. The patient not only did not have any hemorrhagic side effects afterward but also had a significant improvement in her neurologic symptoms. To our best knowledge, this is the only case report of tPA administration in a TS patient. Moreover, we need more case reports to evaluate the safety of tPA in these patients. J Neurol Res. 2020;10(4):140-143 doi: https://doi.org/10.14740/jnr595

Compound odontoma with unususal number of denticles- a case report

The term odontoma refers to hamartomatous lesions (malformations) rather than true neoplasms. They are the most common odontogenic tumour of jaws. They are slow growing in nature. Miss­ing permanent tooth or retained deciduous tooth brings the patient to the clinician usually dur­ing second decade of life. Two types of odontomas has been described: complex and compound. The compound type is more common and frequently found in the anterior maxilla. A 15-year-old male patient reported to department Oral and Maxillofacial Surgery, with missing permanent right central and lateral incisor with retained deciduous in place. Intraoral radiographs were done and multiple small denticles were seen. A total of 39 denticles of various sizes were enucleated from the lesion making this case very unusual.

COMPOUND ODONTOMA WITH UNUSUSAL NUMBER OF DENTICLES- A CASE REPORT

The term odontoma refers to hamartomatous lesions (malformations) rather than true neoplasms. They are the most common odontogenic tumour of jaws. They are slow growing in nature. Miss­ing permanent tooth or retained deciduous tooth brings the patient to the clinician usually dur­ing second decade of life. Two types of odontomas has been described: complex and compound. The compound type is more common and frequently found in the anterior maxilla. A 15-year-old male patient reported to department Oral and Maxillofacial Surgery, with missing permanent right central and lateral incisor with retained deciduous in place. Intraoral radiographs were done and multiple small denticles were seen. A total of 39 denticles of various sizes were enucleated from the lesion making this case very unusual.

Large lymphangiomatous polyp present in palatine tonsil: a case report

<p class="abstract">Lymphangiomatous polyps are rare tumours present in head and neck. Squamous papilloma accounts for majority of benign lesions, whereas vascular tumours are rarely reported. Tonsillar lymphangiomatous polyp is an uncommon hamartomatous lesion that generally arise from tonsillar surface. We present a case of young adolescent female with right tonsillar mass, tonsillectomy performed and post operatively found to be lymphangiomatous polyp, which has been rarely reported.</p>

Metformin effectively treats Tsc1 deletion-caused kidney pathology by upregulating AMPK phosphorylation

Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in multiple organs, with most patients developing polycystic kidney disease and leading to a decline of renal function. TSC is caused by loss-of-function mutations in either Tsc1 or Tsc2 gene, but currently, there is no effective treatment for aberrant kidney growth in TSC patients. By generating a renal proximal tubule-specific Tsc1 gene-knockout (Tsc1ptKO) mouse model, we observed that Tsc1ptKO mice developed aberrantly enlarged kidneys primarily due to hypertrophy and proliferation of proximal tubule cells, along with some cystogenesis, interstitial inflammation, and fibrosis. Mechanistic studies revealed inhibition of AMP-activated protein kinase (AMPK) phosphorylation at Thr-172 and activation of Akt phosphorylation at Ser-473 and Thr-308. We therefore treated Tsc1ptKO mice with the AMPK activator, metformin, by daily intraperitoneal injection. Our results indicated that metformin increased the AMPK phosphorylation, but decreased the Akt phosphorylation. These signaling modulations resulted in inhibition of proliferation and induction of apoptosis in the renal proximal tubule cells of Tsc1ptKO mice. Importantly, metformin treatment effectively prevented aberrant kidney enlargement and cyst growth, inhibited inflammatory response, attenuated interstitial fibrosis, and protected renal function. The effects of metformin were further confirmed by in vitro experiments. In conclusion, this study indicates a potential therapeutic effect of metformin on Tsc1 deletion-induced kidney pathology, although currently metformin is primarily prescribed to treat patients with type 2 diabetes.

Adenomatoid odontogenic tumour in the anterior mandible: a case report

AbstractAdenomatoid odontogenic tumours are hamartomatous lesions that rarely deviate from their well‐recognised radiological features. However, increasing numbers with atypical radiological features have been reported in recent years. This study reports on a large extrafollicular lesion in the anterior mandible with uncommon radiological features in a 17‐year‐old female. Treatment included enucleation with a histopathological confirmation. Healing was uneventful.

Tuberous sclerosis related-lesions detected by postmortem computed tomography

Abstract Tuberous sclerosis (TS) is an autosomal-dominant inherited neurocutaneous syndrome characterized by the presence of hamartomatous lesions in organs such as the skin, eye, brain, lung, heart, kidney and bone. Since evaluation of this disorder has been revolutionized by computed tomography (CT) and magnetic resonance imaging (MRI), the radiologic manifestations of TS have become clinically important for diagnosis. However, it has remained unclear whether postmortem computed tomography (PMCT) is available for recognition of the various organ manifestations of TS in deceased individuals. We present two autopsy cases in which PMCT indicated subependymal calcified tuberous lesions in the brain, cysts or multiple tiny nodules associated with lymphangiomyomatosis or multifocal micronodular pneumocyte hyperplasia in the lungs, respectively, angiomyolipoma in the kidneys, lipoma in the liver, multiple sclerotic lesions in the pelvis and vertebrae, and scoliosis. Such lesions are characteristic of TS. In this way we were able to confirm the validity of PMCT for demonstrating lesions associated with TS in these two cases, and its usefulness for complementing the findings of autopsy in patients with TS.

Becker’s Nevus with Lichen Simplex Chronicus Limited to the Nevus Lesion: A Case Report

: Becker’s nevus is an uncommon hamartomatous skin lesion. Many dermatoses and, rarely, abnormal systemic findings have been reported in association with Becker’s nevus. The occurrence of lichen simplex chronicus (LSC) is rare in Becker’s nevus. In this case report, we share our observation of a 23-year-old Bengali male with LSC in association with Becker’s nevus.

A Case of Laryngeal Hamartoma with Stridor in an Infant

A Case of Laryngeal Hamartoma with Stridor in an Infant

Hamartomas of the Breast: A Mimic of Fibroadenoma and Cytological Pitfall.

Hamartomas of the Breast: A Mimic of Fibroadenoma and Cytological Pitfall.

Metformin Effectively Treats <i>Tsc1</i> Deletion-Caused Kidney Pathology by Upregulating AMPK Phosphorylation

Tuberous sclerosis complex (TSC) is characterized by hamartomatous lesions in multiple organs, with most patients developing polycystic kidney disease and leading to a decline of renal function. TSC is caused by loss-of-function mutations in either Tsc1 or Tsc2 gene, but currently there is no effective treatment for aberrant kidney growth in TSC patients. By generating a renal proximal tubule-specific Tsc1 gene knockout (Tsc1 ptKO) mouse model, we observed that Tsc1ptKO mice developed aberrantly enlarged kidneys primarily due to hypertrophy and proliferation of proximal tubule cells, along with some cystogenesis, interstitial inflammation and fibrosis. Mechanistic studies revealed inhibition of AMP-activated protein kinase (AMPK) phosphorylation at Thr-172 and activation of Akt phosphorylation at Ser-473 and Thr-308. We therefore treated Tsc1 ptKO mice with the AMPK activator, metformin, by daily intraperitoneal injection. Our results indicated that metformin increased the AMPK phosphorylation but decreased the Akt phosphorylation. These signaling modulations resulted in inhibition of proliferation and induction of apoptosis in the renal proximal tubule cells of Tsc1ptKO mice. Importantly, metformin treatment effectively prevented aberrant kidney enlargement and cyst growth, inhibited inflammatory response, attenuated interstitial fibrosis, and protected renal function. The effects of metformin were further confirmed by in vitro experiments. In conclusion, this study indicates a potential therapeutic effect of metformin on Tsc1 deletion-induced kidney pathology, although currently metformin is primarily prescribed to treat patients with type 2 diabetes. Funding Statement: This work was supported by grants from the Science and Technology Commission of Shanghai Municipality (No. 15140902900). Declaration of Interests: The authors have no conflict of interest to report. Ethics Approval Statement: Animal care and all experimental procedures were approved by Fudan University Basic Medical School’s Experimental Animal Ethical Committee (No.20150119-056), and complied with the guidelines of National Institutes of Health.

A large complex infected odontome: Case report and review of literature

Odontomas are benign, slow-growing, and nonaggressive tumors of the jaw. Odontomas are largely considered as hamartomatous lesions but their exact etiology is still a matter of debate. Odontomes are usually asymptomatic, but sometimes they may interfere with the eruption of the associated tooth leading to its impaction. This case report illustrates large symptomatic infected complex odontome in the left mandibular third molar region. Very interestingly, the patient presented with typical features mimicking osteomyelitis. Various investigations including cone-beam computed tomography (CBCT) were done to differentiate and localize the lesion. This article also discusses the various atypical presentations of odontome described in the literature so far and also the benefits of CBCT in terms of diagnosis and localization of odontomas, especially with respect to impacted tooth and mandibular canal.

Nevus sebaceus with syringocystadenoma papilliferum, prurigo nodularis, apocrine cystadenoma, basaloid follicular proliferation, and sebaceoma: case report and review of nevus sebaceus-associated conditions

Nevus sebaceus is a benign skin hamartoma of congenital onset that grows during puberty, and in adulthood can develop secondary benign and malignant neoplasms. The most common benign neoplasms occurring in nevus sebaceus are believed to be syringocystadenoma papilliferum, trichilemmoma, and trichoblastoma. A patient with nevus sebaceus developed not only syringocystadenoma papilliferum but also prurigo nodularis within her hamartomatous lesion; multiple biopsies were necessary to establish the diagnoses. Excision of the residual nevus sebaceus also revealed an apocrine cystadenoma, basaloid follicular proliferation, and sebaceoma. Also, it is important to select the appropriate biopsy site and size when evaluating a patient for secondary neoplasms within their nevus sebaceous. Indeed, more than one biopsy may be required if additional diagnoses are suspected.

Neuromesenchymal hamartoma of the small bowel – A true rare entity or non-specific changes?

Neuromesenchymal hamartoma of the small bowel is a rare hamartomatous lesion. It is well documented in the literature, but due to its very rare occurrence and non-specific clinical features, it can be easily missed. The primary question into debate is whether neuromesenchymal hamartoma a separate entity or just another phase of inflammatory diseases such as Crohn's disease. The authors take this opportunity to report a case of neuromesenchymal hamartoma occurring in the small bowel of a 46-year-old female, without any prior or associated chronic medical conditions, for its rare occurrence.

Bilateral Deri Tutulumu ve İskelet Malformasyonlarının Eşlik Ettiği Becker Nevüs Sendromu: Nadir Bir Olgu

Becker nevus (BN) is a hamartomatous lesion characterized by a hyperpigmented patch generally located in the shoulder or upper trunk. Although BN is reported to be congenital, it is frequently seen in the first or second decade. A diagnosis of BN can be made based on clinical findings and, ideally, a skin biopsy of the lesion. Becker nevus syndrome (BNS), which belongs to the epidermal nevus syndrome group, is a rare disorder characterized by BN associated with skin, muscle, or skeletal anomalies. Ipsilateral breast hypoplasia is the most comman skin finding in BNS. Bilateral skin involvement is rarely seen in the syndrome. Herein, we present a female patient with BNS associated bilateral BN and musculoskeletal findings.

Nevus sebaceous associated with basal cell carcinoma

Nevus sebaceous of Jadassohn is a congenital, uncommon hamartomatous lesion of the epidermis, dermis, and appendages with the predominance of sebaceous elements. This hamartoma has the capacity to develop benign as well as malignant neoplasms, but the malignant transformation is rare. Herein, we report a case of basal cell carcinoma in the background of nevus sebaceous in a 53-year-old female highlighting the importance of prophylactic excision of this lesion.

Recombinant Tissue Plasminogen Activator Use in an Acute Stroke Patient With Tuberous Sclerosis

Tuberous sclerosis (TS) is an autosomal dominant disease known for over a century and recognized by characteristic hamartomatous lesions involving any organ. In this report, we are presenting a patient with TS who presented with acute embolic stroke and received tissue plasminogen activator (tPA) and had a mechanical thrombectomy (MT). She had a dramatic response without any hemorrhagic complications. She is a 68-year-old Caucasian woman with the past medical history of TS since childhood who presented to the hospital with symptoms of left middle cerebral artery (MCA) syndrome (right-sided weakness, sensory loss, right facial droop, aphasia, hemianopia, and dysarthria). National Institute of Health Stroke Scale (NIHSS) score was 19. Head computed tomography (CT) was negative for any acute abnormality except cortical tubers, subependymal ventricular calcification. CT angiography of the head and neck showed proximal occlusion of the left internal carotid artery. After ruling out all exclusion criteria, the patient received tPA and had an MT with complete reperfusion (thrombolysis in cerebral infarction (TICI) 3). Brain magnetic resonance imaging (MRI) showed an acute stroke in the multivessel territories (bilateral parietal cortices, the left lentiform nucleus, medial left temporal lobe, left thalamus, and right occipital lobe) suggestive of an embolic phenomenon and did not show any hemorrhagic complication. TS patients are at increased risk of intracerebral hemorrhage either in the setting of vascular malformation or due to hemorrhage into the subependymal giant cell astrocytoma. The best explanation for the latter could be secondary to elevated venous pressure from increased intracranial pressure. Fortunately, our TS patient who presented with acute ischemic stroke was within the window and received tPA and MT. The patient not only did not have any hemorrhagic side effects afterward but also had a significant improvement in her neurologic symptoms. To our best knowledge, this is the only case report of tPA administration in a TS patient. Moreover, we need more case reports to evaluate the safety of tPA in these patients. J Neurol Res. 2020;10(4):140-143 doi: https://doi.org/10.14740/jnr595

Complex Odontoma – A Case Report

Odontomas are non aggressive, hamartomatous developmental lesion of odontogenic origin. Failure of a permanent tooth to erupt is the most common clinical manifestation. They are classified as complex, when a mixture of odontogenic tissues without dental organization is present, or compound when it is composed of tooth like structures. Complex odontomas have a tendency to occur in posterior mandibular region. We report a case of complex odontoma occurring in maxillary anterior region, which is a relatively uncommon location.

MR Imaging of Meningioangiomatosis in a Pediatric Population

Meningioangiomatosis (MA) is a rare intracranial hamartomatous lesion. We retrospectively reviewed the MRIs in 6 pediatric patients with a histopathologic diagnosis of MA. Patients with MA demonstrated a solitary lesion in the frontotemporal regions, with FLAIR hyperintensity and leptomeningeal enhancement. A solitary brain lesion in the frontotemporal lobes associated with leptomeningeal enhancement and T2/FLAIR hyperintensity should include the possibility of MA in a pediatric patient who presents with seizures or headaches.

SEQUENTIAL CHANGES POST-SCLEROTHERAPY OF A LARGE MANDIBULAR INTRAOSSEOUS HEMANGIOMA

<h3>Background</h3> Intraosseous hemangiomas of the jaws are rare entities, for which the origin is still being debated. Some believe them to be hamartomatous lesions derived from mesodermal cells that undergo endothelial differentiation, while others believe they are true neoplasms. Clinical features reported are swelling, facial asymmetry, mobile teeth, and audible bruits. Patients may report pain, paresthesia, or a sensation of pulsation. The majority of the reported cases in the literature have been treated with en block resection. In this case presentation sclerotherapy was implemented as the primary treatment for a large, albeit low-flow, lesion, in part because of the patient's objection to extensive surgery. <h3>Discussion/Conclusions</h3> A 59-year-old female was referred to our clinic for treatment of a histopathologically confirmed intraosseous vascular malformation diagnosed 5 years earlier. She presented with mild swelling of the left mandible, pain on chewing, and paresthesia in that region. A pantomograph revealed a large, partially loculated, radiolucent area in the left mandible; the lesion had approximately doubled in size since her initial visit. Multidetector computed tomography (MDCT) revealed an expansile lesion with effacement of the buccal cortex. Root resorption of multiple associated teeth was present. Spiral computed tomography (CT) angiography demonstrated an expansile, hypervascular soft tissue mass with no evidence of arteriovenous malformation, consistent with focal hemangioma. In this case, the goal was to resolve or at least greatly reduce the size of the lesion; thus, if surgical intervention was deemed necessary, it would be more conservative. Sequential sclerotherapy was performed and resulted in the return of nonvascular stroma, although with delayed significant reossification. It appears the patient's resistance to surgery was rewarded and likely resulted in a more aesthetic outcome. Because of the risk for recurrence, periodic long-term follow-up is scheduled.