Hamartoma. Medical search. Frequent questions

The Comprehensive PTEN Hamartoma Tumor Syndrome (PHTS) Multidisciplinary Clinic manages patients with PHTS , which includes a group of clinical disorders caused by changes in the PTEN gene. (chop.edu)
The PHTS Clinic is led by a group of specialists with expertise in multidisciplinary care for pediatric patients with PTEN hamartoma tumor syndrome. (chop.edu)
This report shows that mosaic alteration of PTEN may result in multiple central and peripheral nervous system hamartomas and that the presence of such alteration should be considered in patients with multiple nervous system masses, even in the absence of cardinal features of PTEN hamartoma tumor syndrome, especially macrocephaly. (biomedcentral.com)
Phenotype-Driven Diagnostic of PTEN Hamartoma Tumor Syndrome: Macrocephaly, But Neither Height nor Weight Development, Is the Important Trait in Children. (ptenfoundation.org)
Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions. (medlineplus.gov)

Hamartomas are usually caused by a genetic syndrome that affects the development cycle of all or at least multiple cells. (wikipedia.org)
Disorders associated with hamartomas include tuberous sclerosis, cowden syndrome, PTEN hamartoma tumour syndrome, and peutz-jeghers syndrome. (wikipedia.org)
It has been suggested that PTEN mutation-positive CS and BRR should be grouped as a single entity for clinical purposes and classified as the 'PTEN hamartoma-tumour syndrome' [111]. (nih.gov)
A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. (jax.org)
Background PTEN hamartoma tumour syndrome (PHTS) encompasses several clinical syndromes with germline mutations in the PTEN tumour suppressor gene, including Cowden syndrome which is characterised by an increased risk of breast and thyroid cancers. (bmj.com)
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. (beds.ac.uk)
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. (nih.gov)
A non-familial syndrome has been identified consisting of pulmonary hamartoma, functioning extra-adrenal paragangliomas , and epithelioid gastrointestinal stromal tumor of stomach (Carney triad) . (webpathology.com)
Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers. (medlineplus.gov)
Almost everyone with Cowden syndrome develops hamartomas. (medlineplus.gov)
People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. (medlineplus.gov)
invasive micropapil- in up to 35 % of cases.3 This syndrome lary carcinoma of the right breast, with right is a rare multisystem disease character- mastectomy seven years ago, and endome- ized by multiple hamartomas in various trial cancer, with a hysterectomy five years tissues, particularly in the skin and mucous ago. (bvsalud.org)

About 5-8% of all solitary lung nodules and about 75% of all benign lung tumors, are hamartomas. (wikipedia.org)
Hypothalamic hamartomas (HH) are rare, benign (noncancerous) tumors of the hypothalamus, a region of your brain that regulates many of your body's systems. (barrowneuro.org)
Combined hamartomas of the retina and RPE are rare intraocular tumors characterized by the malformation of the neurosensory retina, RPE and adjacent vitreous. (reviewofoptometry.com)
Combined hamartomas of the retina and retinal pigment epithelium (CHRRPE) are rare, congenital, intraocular tumors characterized by the malformation of the neurosensory retina, RPE and adjacent vitreous with disorganized glial, vascular and melanocytic tissue. (reviewofoptometry.com)
Mutations in the PTEN gene prevent the PTEN protein from regulating cell proliferation effectively, leading to uncontrolled cell division and the formation of hamartomas and cancerous tumors. (medlineplus.gov)
Shields et al 3 reported their experience on 77 cases of combined hamartoma of retina and retinal pigment epithelium and noted that progressive vision loss occurs in only 13% of extramacular tumors, as this case was initially according to their definition. (jamanetwork.com)

Note unenhancing mass ( short arrows ) located at hypothalamus, which was assumed to be hamartoma. (ajronline.org)
Hypothalamic hamartomas are rare malformations of fetal brain development, affecting development of the hypothalamus, and are placed within the spectrum of grey matter heterotopia . (epilepsydiagnosis.org)

Niknejad M, Breast hamartoma. (radiopaedia.org)
Typical appearance of breast hamartoma which is a benign breast lesion. (radiopaedia.org)
We report the case of a young prepuberal 11 year old patient who rapidly developed a breast hamartoma with a prominent angiomatous (vascular) component that was observed on both radiological and pathological examination, raising the possibility of other breast neoplasms. (rrml.ro)

The incidence of hepatic mesenchymal hamartoma (HMH) is increased in patients with placental mesenchymal dysplasia (PMD), which appears to be caused by androgenetic-biparental mosaicism (ABM). (elsevierpure.com)
Mesenchymal hamartoma of the liver is a rare benign tumor of children, which definitive diagnosis during the fetal period remains difficult, despite advances in antenatal imaging. (rarejournal.org)
In this paper, we report a case of hepatic mesenchymal hamartoma diagnosed prenatally with ultrasound scan showing a multicystic mass in the left upper abdomen accompanying polyhydramnios and complicated by a preterm labor. (rarejournal.org)
Mesenchymal hamartoma of the liver: a systematic review. (rarejournal.org)
Prenatal diagnosis of congenital mesenchymal hamartoma of liver: a case report. (rarejournal.org)
Large hepatic mesenchymal hamartoma leading to mid-trimester fetal demise. (rarejournal.org)
Mesenchymal hamartoma of the liver: a benign tumor with deceptive prognosis in the perinatal period. (rarejournal.org)
Prenatal diagnosis of hepatic mesenchymal hamartoma. (rarejournal.org)
Fetal mesenchymal hamartoma of the liver: report of a case. (rarejournal.org)
Ruptured cystic mesenchymal hamartoma: An unusual cause of neonatal ascites. (rarejournal.org)
Prenatal evaluation of mesenchymal hamartoma of the liver: Gray scale and power Doppler sonographic imaging. (rarejournal.org)
Mesenchymal hamartoma of the chest wall is a rare benign nonneoplastic lesion of infancy arising from chondro‐osseous tissue. (edu.au)

Hypothalamic hamartomas are usually benign but often associated with seizures which do not respond to medication and surgical removal may be required. (wikidoc.org)
Hypothalamic hamartomas are associated with different clinical presentations, depending upon the site of attachment of the hamartoma. (epilepsydiagnosis.org)
The Hypothalamic Hamartomas (HH) are masses with low frequency of appearance that usually appear in nodes united to Tuber Cinereum or to the Mamillary Bodies. (bvsalud.org)
What are Hypothalamic Hamartomas? (barrowneuro.org)
Hypothalamic hamartomas affect people from infancy through adulthood and commonly cause seizures, precocious (early) puberty, hormonal imbalances, and cognitive and behavioral problems. (barrowneuro.org)
Hypothalamic hamartomas are usually diagnosed during evaluation of people for epilepsy or precocious puberty. (barrowneuro.org)
Our neurosurgeons at Barrow Neurological Institute at Dignity Health St. Joseph's Hospital and Medical Center are one of just a few groups in the world with significant experience using the transcallosal approach to remove hypothalamic hamartomas. (barrowneuro.org)
The flowchart below shows some of the more common ways that hypothalamic hamartomas are treated at Barrow. (barrowneuro.org)

The purpose of this case report is to present a case of bilateral, combined hamartoma of the retina and retinal pigment epithelium (RPE) leading to a suspected diagnosis of neurofibromatosis type 2. (reviewofoptometry.com)
Combined hamartoma of the retina and retinal pigment epithelium (RPE) is a rare, congenital, and benign tumour that may be mistaken with a choroid melanoma or retinoblastoma. (fortunepublish.com)
Our case report aims to describe the clinic and its correlation with MRI imaging on the evolution of a combined hamartoma of the retina and retinal pigment epithelium in a 5-month-old baby with six years of follow up. (fortunepublish.com)
Presumed Natural History of Combined Hamartoma of the Retina and Retinal Pigment Epithelium. (bvsalud.org)
To correlate structural changes of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) with patient age. (bvsalud.org)

A hamartoma is a mostly benign, local malformation of cells that resembles a neoplasm of local tissue but is usually due to an overgrowth of multiple aberrant cells, with a basis in a systemic genetic condition, rather than a growth descended from a single mutated cell (monoclonality), as would typically define a benign neoplasm/tumor. (wikipedia.org)
Despite this, many hamartomas are found to have clonal chromosomal aberrations that are acquired through somatic mutations, and on this basis the term hamartoma is sometimes considered synonymous with neoplasm. (wikipedia.org)
Additionally, the definition of hamartoma versus benign neoplasm is often unclear, since both lesions can be clonal. (wikipedia.org)
A hamartoma (from Greek hamartia, meaning "fault, defect," and -oma, denoting a tumor or neoplasm) is a benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues found in areas of the body where growth occurs. (medscape.com)
A hamartoma resembles a neoplasm, but in most cases, it does not show any tendency to evolve into one. (medscape.com)
A hamartoma is defined as a focal growth that resembles a neoplasm but results from faulty development in an organ. (wikidoc.org)

Hamartomas attached anteriorly in the region of the tuber cinereum cause central precocious puberty. (epilepsydiagnosis.org)
Immunocytochemical studies of the tissue demonstrated luteinizing hormone-releasing hormone (LHRH) granules in the perikaryon of neurons and axons in the hamartoma and axons connecting the hamartoma to the tuber cinereum. (elsevierpure.com)

Moreover, even though hamartomas show a benign histology, there is a risk of some rare but life-threatening complications such as those found in neurofibromatosis type I and tuberous sclerosis. (wikipedia.org)

A paraffin-embedded tissue sample from the removed mass was diagnosed as a bronchial hamartoma. (cdc.gov)

Endobronchial hamartoma (EH) represents nearly 10% of all lung hamartomas, the most common benign lung tumour. (journalpulmonology.org)

Neuromuscular and vascular hamartoma: is it a true hamartoma? (bmj.com)
Neuromuscular and vascular hamartoma (NMVH) is a very rare gastrointestinal tract lesion. (bmj.com)
Only one case of vascular hamartoma of the breast in a 5 year old girl has been previously reported in the English literature. (rrml.ro)

We report on a C. baileyi infection associated with pulmonary hamartoma in an immunocompetent patient in Poland. (cdc.gov)

The classic hamartoma syndromes and the related conditions discussed in this chapter show varying degrees of phenotypic and genetic overlap. (nih.gov)
Given that the degree and type of cancer susceptibility between the hamartoma and lentiginosis syndromes is different, clarification of these syndromes at the molecular level is predicted to allow directed cancer surveillance. (nih.gov)
The molecular story is still evolving with regards to aspects of genetic heterogeneity, signalling pathways and the manner in which these hamartoma genes function in the development of their respective syndromes. (nih.gov)

An X-ray will often not provide a definitive diagnosis, and even a CT scan may be insufficient if the hamartoma lacks the typical cartilage and fat cells. (wikipedia.org)
The difficulty in identifying gelastic seizures usually delays the diagnosis of epilepsy caused by a hypothalamic hamartoma. (barrowneuro.org)
This case presentation discusses the clinical characteristics of combined hamartomas of the retina and RPE as well as other potential ocular manifestations of neurofibromatosis type 2 and the importance of early diagnosis of neurofibromatosis type 2. (reviewofoptometry.com)

Lung hamartomas may have popcorn-like calcifications on chest xray or computed tomography (CT scan). (wikipedia.org)

They can be worrisome, especially if situated deep in the lung, as it is sometimes difficult to make the important distinction between a hamartoma and a lung malignancy. (wikipedia.org)
Lung hamartomas are more common in men than in women, and may present additional difficulties in smokers. (wikipedia.org)
Some lung hamartomas can compress surrounding lung tissue to a degree, but this is generally not debilitating and is often asymptomatic, especially for the more common peripheral growths. (wikipedia.org)
1 Although benign, hamartoma has been linked with lung cancer and very occasionally can evolve to a malignant lesion. (journalpulmonology.org)
We describe a C. baileyi infection associated with a lung hamartoma in an immunocompetent patient. (cdc.gov)

Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. (beds.ac.uk)

Histological examination of this latter lesion revealed a glioneuronal hamartoma, exhibiting heterogeneous PTEN immunoreactivity, astrocyte and endothelial cell nuclei expressing PTEN, but not ganglion cells. (biomedcentral.com)

The two can be differentiated as follows: a hamartoma is an excess of normal tissue in a normal situation (e.g., a birthmark on the skin), while a choristoma is an excess of tissue in an abnormal situation (e.g., pancreatic tissue in the duodenum). (wikipedia.org)

The pathophysiology of lipofibromatous hamartoma (LFH) is unknown. (medscape.com)

The development of hamartomas has also been linked to certain genes such as SMAD4, PTEN, STK1, and BMPR1A. (wikipedia.org)

Cardiac rhabdomyomas are hamartomas composed of altered cardiac myocytes that contain large vacuoles and glycogen. (wikipedia.org)
Only 8 cases of hamartomas of mature cardiac myocytes have been reported. (elsevierpure.com)
Our anatomical pathology database was searched for all cases of cardiac hamartoma, of which 7 represented mature myocyte type. (elsevierpure.com)
In conclusion, hamartomas of mature cardiac myocytes may be detected at any age. (elsevierpure.com)

Hamartomas are caused by abnormal formation in normal tissue and can occur spontaneously or as a result of an underlying disorder. (wikipedia.org)
Hamartomas result from an abnormal formation of normal tissue, although the underlying reasons for the abnormality are not fully understood. (wikidoc.org)

Podeanu MD, Marian C, Copotoiu C, Brânzaniuc K, Stolnicu S. Angiomatous hamartoma of the breast: a new entity developing in pediatric patients. (rrml.ro)

Connect with other caregivers and patients with Basaloid follicular hamartoma and get the support you need. (rareguru.com)
Patients with lipofibromatous hamartoma (LFH) typically present with gradually enlarging nontender lesions (see the image below). (medscape.com)
Thus, all patients with combined hamartoma of the retina and RPE require careful eye exams and detailed case history. (reviewofoptometry.com)

Since the development of the computerized tomography, hipotalamic hamartoma is considered as one of the the most common cause of precocious puberty, representing the 16% of the subjects in girls and up to 50% in boys. (bvsalud.org)
Central precocious puberty (early puberty) is the most common sign of these disturbances, and may be the only symptom of hypothalamic hamartoma that your child has. (barrowneuro.org)

Hamartomas that are attached posteriorly in the region of the mammillary bodies cause seizures. (epilepsydiagnosis.org)
Hypothalamic hamartoma occurs in both sexes, with a male predominance (1.3M:F). Seizure onset is typically under the age of 1 year, typically with focal emotional seizures with laughter (gelastic seizures) present from birth, but often recognized in retrospect after emergence of other seizure types. (epilepsydiagnosis.org)
Seizures caused by a hypothalamic hamartoma usually begin in infancy, most often as brief and frequent gelastic (or laughing) seizures. (barrowneuro.org)
Seizures caused by a hypothalamic hamartoma generally do not respond to medication. (barrowneuro.org)

Hamartomas are tumor-like masses composed of disorganized benign cells and tissues that are indigenous to the organ/site where they arise. (webpathology.com)

The term hamartoma is from the Greek ἁμαρτία, hamartia ("error"), and was introduced by D.P.G. Albrecht in 1904. (wikipedia.org)

Fibrous hamartoma of infancy is a rare, benign soft tissue tumor that typically occurs within the first two years of life. (ispub.com)
Microscopic examination was indicative of fibrous hamartoma of infancy (Fig. 1 and 2). (ispub.com)
Characteristic histologic appearance of fibrous hamartoma of infancy demonstrating an admixture of mature adipose tissue, scattered primitive mesenchymal cells, and dense bundles of fibrous tissue (100x). (ispub.com)
Fibrous hamartoma of infancy was first described by Reye in 1954 and later coined its current name by Enzinger. (ispub.com)

Some children with a hypothalamic hamartoma may have endocrine (hormonal) disturbances. (barrowneuro.org)

Lipofibromatous hamartoma (LFH) is a rare, benign fibrofatty tumor composed of a proliferation of mature adipocytes within peripheral nerves, which form a palpable neurogenic mass. (medscape.com)

The MR imaging findings of the mass were consistent with hypothalamic hamartoma ( Fig. 1B ). (ajronline.org)

Lesions such as adenomas, developmental cysts, hemangiomas, lymphangiomas and rhabdomyomas within the kidneys, lungs or pancreas are interpreted by some experts as hamartomas while others consider them true neoplasms. (wikipedia.org)

Hamartomas are most likely the result of developmental error and can manifest itself in multiple locations. (wikipedia.org)

In that patient, the greatest imbalances were observed in stroma-rich portions of the hamartoma, with no significant imbalance in histologically normal liver or epithelium-rich portions of the hamartoma. (elsevierpure.com)

Pulmonary hamartomas are peripherally located, solitary, and well-demarcated masses. (webpathology.com)

The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. (medlineplus.gov)

Hamartomas occur in many different parts of the body and are most often asymptomatic incidentalomas (undetected until they are found incidentally on an imaging study obtained for another reason). (wikipedia.org)
Most cases of lipofibromatous hamartoma (LFH) occur within the first 3 decades of life, with a mean age of 22.3 years in isolated cases and 22 years in cases with macrodactyly. (medscape.com)

Plaque-like CD34-positive dermal fibromas, also known as medallion-like dermal dendrocyte hamartomas (MDDHs), are a recently recognized group of congenital and acquired spindle cell neoplasms that may appear histologically similar to dermatofibrosarcoma protuberans. (nih.gov)

Anatomy2

Diseases8

Chemicals and Drugs1

Psychiatry and Psychology1

Tumor syndrome5

Syndrome12

Tumors6

Hypothalamus2

Breast hamartoma3

Mesenchymal hamartoma12

Hypothalamic Hamartomas8

Retinal pigment ep5

Neoplasm6

Tuber cinereum2

Tuberous sclerosis1

Bronchial1

Tumour1

Vascular hamartoma3

Pulmonary hamartoma1

Syndromes3

Diagnosis3

Computed tomography1

Lung5

Anomalies1

Lesion1

Duodenum1

Pathophysiology1

Genes1

Cardiac4

Abnormal formation2

Pediatric1

Patients3

Precocious2

Seizures4

Arise1

Hamartia1

Infancy4

Endocrine1

Rare benign1

Mass1

Kidneys1

Multiple1

Liver1

Masses1

Typically1

Occur2

Fibromas1