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Anais Brasileiros de Dermatologia Jun 2018Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as... (Review)
Review
Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumor suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. The treatment of tuberous sclerosis complex consists, mainly, in management of the symptoms caused by hamartomas and in prevention of organ failure. Multidisciplinary approach is recommended, in order to obtain better clinical outcomes.
Topics: Hamartoma; Humans; Immunosuppressive Agents; Mutation; Sirolimus; Tuberous Sclerosis
PubMed: 29924239
DOI: 10.1590/abd1806-4841.20186972 -
Neurology Nov 2021Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging... (Review)
Review
Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in and other patterning genes are involved in HH pathogenesis. About 50%-80% of children with HH have severe rage and aggression and a majority of patients exhibit externalizing disorders. Behavioral disruption and intellectual disability may predate epilepsy. Neuropsychological, sleep, and endocrine disorders are typical. The purpose of this article is to provide a summary of the current understanding of HH and to highlight opportunities for future research.
Topics: Child; Comorbidity; Epilepsy; Hamartoma; Humans; Hypothalamic Diseases
PubMed: 34607926
DOI: 10.1212/WNL.0000000000012773 -
Epileptic Disorders : International... Oct 2022We aimed to determine the prevalence of epilepsy and neurodevelopmental disorders, including autism spectrum disorder, in children and adolescents with hypothalamic...
OBJECTIVE
We aimed to determine the prevalence of epilepsy and neurodevelopmental disorders, including autism spectrum disorder, in children and adolescents with hypothalamic hamartoma (HH). We also sought to explore the relationship between these neurodevelopmental comorbidities and epilepsy and to establish the predictive value of structural characteristics of the hamartoma itself.
METHODS
We retrospectively studied a cohort of 62 children with HH, with neuroimaging reviewed at Great Ormond Street Hospital (GOSH) between 2008 and 2018. Clinical records were reviewed, cognitive and language data analysed, and MRI scans studied.
RESULTS
We confirmed a high burden of epilepsy (56%), autism (19%) and other neurodevelopmental disorders. Although rates of some neurodevelopmental disorders were significantly higher in those with epilepsy, autistic features and/or early developmental concerns often predated the onset of seizures, in particular generalized seizures, or occurred independently of seizures. We found a significant correlation between certain structural characteristics of the hamartoma itself and both epilepsy and certain neurodevelopmental comorbidities.
SIGNIFICANCE
These findings suggest that although seizure burden clearly contributes to the cognitive and behavioural phenotypes seen, the hamartoma itself, and particular characteristics of it, are likely to be primary determinants of both the epilepsy and neurodevelopmental profiles. It is also probable that the underlying aetiology, likely genetic, directly contributes to the clinical profile, with epilepsy, neurodevelopmental impairment and the hamartoma itself representing markers of this aetiology. We propose that atypical neurodevelopmental profiles in HH could best be conceptualized as a developmental and epileptic encephalopathy. These findings have implications for counselling, monitoring and treatment.
Topics: Autism Spectrum Disorder; Epilepsy; Hamartoma; Humans; Hypothalamic Diseases; Magnetic Resonance Imaging; Retrospective Studies; Seizures
PubMed: 35860877
DOI: 10.1684/epd.2022.1458 -
British Journal of Hospital Medicine... Mar 2022
Topics: Bronchoscopy; Hamartoma; Humans
PubMed: 35377204
DOI: 10.12968/hmed.2021.0482 -
Head and Neck Pathology Mar 2016Low-grade epithelial proliferations of the sinonasal tract include Schneiderian papillomas, respiratory epithelial adenomatoid hamartoma, seromucinous hamartoma and... (Review)
Review
Low-grade epithelial proliferations of the sinonasal tract include Schneiderian papillomas, respiratory epithelial adenomatoid hamartoma, seromucinous hamartoma and low-grade non-intestinal adenocarcinoma. There is considerable overlap in their clinical presentation, endoscopic appearance, and imaging features. Although well-described diagnostic criteria exist, a definitive diagnosis may be difficult to reach on a small biopsy. Schneiderian papillomas are divided into fungiform, inverted, and oncocytic types, each with characteristic clinical and morphological features. The latter two may progress to malignancy. The majority are still considered to be HPV-related. Two lesions are designated as hamartomas, but their pathogenesis remains uncertain, with inflammatory and neoplastic origins proposed. Respiratory epithelial adenomatoid hamartoma is increasingly being recognized for its association with chronic rhinosinusitis and olfactory cleft site of origin. Seromucinous hamartoma has gained attention in recent years and overlaps with both respiratory epithelial adenomatoid hamartoma and low-grade non-intestinal adenocarcinoma. Controversy surrounds their distinction, particularly from low-grade adenocarcinoma. The latter generally is cured by complete excision, with a 26 % risk of recurrence but rare metastases and deaths from disease.
Topics: Adenocarcinoma; Diagnosis, Differential; Hamartoma; Humans; Papilloma; Paranasal Sinus Diseases; Paranasal Sinus Neoplasms
PubMed: 26830403
DOI: 10.1007/s12105-016-0691-z -
Head and Neck Pathology Dec 2020Nasal chondromesenchymal hamartoma (NCMH) is a rare, benign lesion of the sinonasal tract. It usually presents as a polypoid mass in infants and older children. Imaging...
Nasal chondromesenchymal hamartoma (NCMH) is a rare, benign lesion of the sinonasal tract. It usually presents as a polypoid mass in infants and older children. Imaging studies and endoscopy are required to delineate the extent of the lesion and aid in its excision. This unusual lesion is composed of proliferating mesenchymal and cartilaginous elements. Recently, a genetic association between NCMH and DICER1 mutation has been established. It is important for pathologists to be familiar with this entity to avoid misdiagnosis since the lesion is benign and surgical excision is curative.
Topics: Hamartoma; Humans; Infant; Male; Nose Diseases
PubMed: 32462280
DOI: 10.1007/s12105-020-01179-3 -
Neurologia Medico-chirurgica May 2005The incidence of hypothalamic hamartomas (HHs) has increased since the introduction of magnetic resonance (MR) imaging. The etiology of this anomaly and the pathogenesis... (Review)
Review
The incidence of hypothalamic hamartomas (HHs) has increased since the introduction of magnetic resonance (MR) imaging. The etiology of this anomaly and the pathogenesis of its peculiar symptoms remain unclear, but recent electrophysiological, neuroimaging, and clinical studies have yielded important data. Categorizing HHs by the degree of hypothalamic involvement has contributed to the accurate prediction of their prognosis and to improved treatment strategies. Rather than undergoing corticectomy, HH patients with medically intractable seizures are now treated with surgery that targets the HH per se, e.g. HH removal, disconnection from the hypothalamus, stereotactic irradiation, and radiofrequency lesioning. Although surgical intervention carries risks, total eradication or disconnection of the lesion leads to cessation or reduction of seizures and improves the cognitive and behavioral status of these patients. Precocious puberty in HH patients is safely controlled by long-acting gonadotropin-releasing hormone agonists. The accumulation of knowledge regarding the pathogenesis of symptoms and the development of safe, effective treatment modalities may lead to earlier intervention in young HH patients and prevent the decline in their cognitive abilities and quality of life. This review of hypothalamic hamartomas presents current classifications, pathophysiologies, and treatment modalities.
Topics: Hamartoma; Humans; Hypothalamic Diseases
PubMed: 15914961
DOI: 10.2176/nmc.45.221 -
Diagnostic and Interventional Imaging Apr 2016Von Meyenburg complexes, or biliary hamartomas, are frequently incidentally detected. They are usually easy to characterize with magnetic resonance imaging. However, in... (Review)
Review
Von Meyenburg complexes, or biliary hamartomas, are frequently incidentally detected. They are usually easy to characterize with magnetic resonance imaging. However, in some occasions they are difficult to differentiate from other liver lesions, in particular from small liver metastases. Von Meyenburg complexes are developmental malformations of the ductal plate. They can be found in association with Caroli disease and Caroli syndrome. Like other ductal plate malformations, Von Meyenburg complexes associated with cholangiocarcinoma have been described and their relationship has been established. This review provides an update on the etiopathogenesis of Von Meyenburg complexes, illustrates the imaging features on ultrasound, CT and MRI of this condition and discusses the most common diagnostic pitfalls. The relationships between Von Meyenburg complexes and the various ductal plate malformations and the most recent literature data regarding the relationships between Von Meyenburg complexes and cholangiocarcinoma are presented.
Topics: Bile Duct Diseases; Diagnosis, Differential; Hamartoma; Humans
PubMed: 26522945
DOI: 10.1016/j.diii.2015.05.012 -
Turkish Journal of Ophthalmology Dec 2022Hamartomas are local malformation of cells that demonstrate abnormal proliferation in the area where they are normally present. Retinal and optic disc hamartomas include...
Hamartomas are local malformation of cells that demonstrate abnormal proliferation in the area where they are normally present. Retinal and optic disc hamartomas include astrocytic hamartoma, congenital hypertrophy of the retinal pigment epithelium (CHRPE), simple congenital hamartoma of the retinal pigment epithelium (CSHRPE), combined hamartoma of the retina and retinal pigment epithelium (CHRRPE), retinal hemangioblastoma (retinal capillary hemangioma), and retinal cavernous hemangioma. Retinal and optic disc hamartomas can be observed sporadically as well as with systemic associations. Astrocytic hamartoma usually appears as a flat, transparent yellowish lesion. CHRPE is a round, pigmented, and flat lesion. CSHRPE usually presents as a dark black macular tumor. CHRRPE consists of vascular, glial, and pigment epithelial components, which can demonstrate peripapillary, macular, and peripheral localization. Retinal hemangioblastoma is a vascular tumor, red-pink in color with tortuous and dilated afferent and efferent vessels, typically located in the peripheral retina or optic disc. Retinal cavernous hemangioma is characterized by the formation of thin-walled saccular angiomatous structures in the retina or optic nerve head resembling concord grapes. Ultrasonography, fundus autofluorescence, optical coherence tomography, optical coherence tomography angiography, and fluorescein angiography methods are used in the diagnosis of retinal and optic disc hamartomas. Some retinal and optic disc hamartomas do not require treatment. However, complications including vitreous hemorrhage, macular exudation, retinal detachment, macular hole, epiretinal membrane, and choroidal neovascularization require treatment.
Topics: Humans; Optic Disk; Hemangioblastoma; Retina; Retinal Diseases; Retinal Neoplasms; Eye Abnormalities; Hamartoma; Eye Neoplasms; Hemangioma, Cavernous
PubMed: 36578224
DOI: 10.4274/tjo.galenos.2022.25979 -
Indian Journal of Dermatology,... 2016
Topics: Hamartoma; Humans; Male; Middle Aged; Skin Neoplasms
PubMed: 27088945
DOI: 10.4103/0378-6323.175921