Hamartoma
Hamartoma Syndrome, Multiple
Hypothalamic Diseases
Brunner Glands
Receptors, Wnt
Duodenal Diseases
Laughter
Tongue Diseases
Median Neuropathy
Splenic Diseases
Total gastrointestinal endoscopy in the management of Peutz-Jeghers syndrome. (1/373)
Peutz-Jeghers syndrome was diagnosed in a 51-year-old woman presenting with iron deficiency anaemia. Upper gastrointestinal endoscopy and colonoscopy revealed several hamartomatous polyps in the stomach, duodenum and colon, which were removed. At a combined surgical-endoscopic procedure, 42 hamartomatous polyps were removed from the small intestine by snare polypectomy. This enteroscopic procedure reduces symptoms, may protect against future intestinal obstructive episodes and their associated surgery, and may reduce the risk of developing gastrointestinal malignancy. (+info)Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot. (2/373)
The gonadotropin releasing hormone (GnRH) secreting hypothalamic hamartoma (HH) is a congenital malformation consisting of a heterotopic mass of nervous tissue that contains GnRH neurosecretory neurons attached to the tuber cinereum or the floor of the third ventricle. HH is a well recognised cause of gonadotropin dependent precocious puberty (GDPP). Long term data are presented on eight children (five boys and three girls) with GDPP due to HH. Physical signs of puberty were observed before 2 years of age in all patients. At presentation with sexual precocity, the mean height standard deviation (SD) for chronological age was +1.60 (1.27) and the mean height SD for bone age was -0.92 (1.77). Neurological symptoms were absent at presentation and follow up. The hamartoma diameter ranged from 5 to 18 mm and did not change in six patients who had magnetic resonance imaging follow up. All patients were treated clinically with GnRH agonists (GnRH-a). The duration of treatment varied from 2.66 to 8.41 years. Seven of the eight children had satisfactory responses to treatment, shown by regression of pubertal signs, suppression of hormonal levels, and improvement of height SD for bone age and predicted height. One patient had a severe local reaction to GnRH-a with failure of hormonal suppression and progression of pubertal signs. It seems that HH is benign and that GnRH-a treatment provides satisfactory and safe control for most children with GDPP due to HH. (+info)Colonic hamartoma development by anomalous duplication in Cdx2 knockout mice. (3/373)
To determine the biological role of caudal-like homeobox gene CDX2, we constructed knockout mice in which its mouse homologue Cdx2 was inactivated by homologous recombination, placing a bacterial lacZ gene under the control of the Cdx2 promoter. Although the homozygous mutants died in utero around implantation, the heterozygotes were viable and fertile and expressed lacZ in the caudal region in early embryos and in the gut tissues in adults. The heterozygotes developed cecal and colonic villi by anteriorization and formed hamartomatous polyps in the proximal colon. The hamartoma started to develop at 11.5 days of gestation as an outpocket of the gut epithelium, which ceased to express the remaining Cdx2 allele. The outpocket then expanded as a partially duplicated gut but was contained as a hamartoma after birth. In adult mice, these hamartomas grew very slowly and took a benign course. None of them progressed into invasive adenocarcinomas, even at 1.5 years of age. Whereas the cecal and colonic villi expressed lacZ, the hamartoma epithelium did not, nor did it express Cdx2 mRNA from the wild-type allele. However, genomic DNA analysis of the polyp epithelium did not show a loss of heterozygosity of the Cdx2 gene, suggesting a mechanism of biallelic Cdx2 inactivation other than loss of heterozygosity. These results indicate that the Cdx2 haploin-sufficiency caused cecal and colonic villi, whereas the biallelic inactivation of Cdx2 triggered anomalous duplications of the embryonic gut epithelium, which were contained as hamartomas after birth. (+info)Solid mesenchymal hamartoma of the liver in adult. (4/373)
This paper presents an unusual solid mesenchymal hamartoma of the liver (MHL) in adult. A well defined solid mass in the left lobe of the liver was found in a 57-year-old female. Preoperative radiologic examinations demonstrated solid mass with multifocal calcifications abutting the gallbladder. By light microscopy, the lesion was composed of dense fibrous stroma with hyalinization, bile ducts and thick-walled vessels without hepatocytes. The solid and hyalinized mesenchymal component would suggest an unusual degenerative change representing a burnt-out MHL. (+info)Midline spinal cord hamartomas: MR imaging features of two patients. (5/373)
Congenital midline spinal hamartomas are relatively rare. Patients harboring this anomaly are generally asymptomatic, but present with an overlying skin anomaly. MR imaging depicts a mass that is isointense with the spinal cord on all sequences, and may show a dermal sinus tract that tethers the cord at the level of the lesion. We report the MR features of congenital midline spinal hamartoma in two children. (+info)Pallister-Hall syndrome: clinical and MR features. (6/373)
A 4-month-old boy with polydactyly and bifid epiglottis was found to have a large sellar and suprasellar mass. When the diagnosis of Pallister-Hall syndrome was made, conservative management was elected. When the patient was 2 years old, the tumor had grown proportionally with the patient, and he was developing appropriately. Although rare, this entity is important to recognize not only for clinical diagnosis but also for appropriate management and genetic counseling. (+info)A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. (7/373)
White Sponge Nevus (WSN) is a rare, autosomal dominant disorder that predominantly affects noncornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and "spongy" plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Mutations in keratin 4 (K4) and keratin 13 (K13) genes have already been demonstrated to be responsible for WSN; the identification of new keratin mutations in a stratified squamous epithelia closely related to epidermis is of relevance for the understanding of the biochemistry of intermediate filaments, and for genotype phenotype correlations. In this study we investigated a 27-y-old, female Italian patient, affected by white asymptomatic oral plaques. Sequence analysis revealed a 3 bp (ACA) heterozygous insertion localized in the helix initiation motif of the 1A alpha helical domain of K4. We report this new K4 gene mutation and describe an amino acid insertion, in the 1A domain, responsible for a keratin disease. (+info)Cutaneous hamartoma of the hand: MR imaging findings. (8/373)
We report two cases of magnetic resonance imaging of the cutaneous hamartoma on the hand, which is a rare benign soft tissue tumor. (+info)A hamartoma is a benign tumor-like growth that is composed of an unusual mixture of cells and tissues that are normally found in the affected area. These growths can occur anywhere in the body, but they are most commonly found in the skin, lungs, and brain. Hamartomas are typically slow growing and do not spread to other parts of the body (metastasize). They are usually harmless, but in some cases, they may cause symptoms or complications depending on their size and location. In general, hamartomas do not require treatment unless they are causing problems.
Hamartoma syndrome, multiple is a genetic disorder also known as Cowden syndrome. It is characterized by the growth of hamartomas, which are benign tumors made up of an overgrowth of normal cells and tissues. These hamartomas can develop in various parts of the body, including the skin, mucous membranes, gastrointestinal tract, breasts, thyroid gland, and other organs.
People with multiple hamartoma syndrome are at an increased risk of developing certain types of cancer, particularly breast, thyroid, endometrial, and colon cancers. They may also have benign growths in the skin and mucous membranes, such as trichilemmomas (benign tumors of the hair follicle) and papillomatous papules (benign growths with a wart-like appearance).
Multiple hamartoma syndrome is caused by mutations in the PTEN gene, which is a tumor suppressor gene. This means that the gene normally helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. When the PTEN gene is mutated, it can lead to the development of hamartomas and increase the risk of cancer.
The diagnosis of multiple hamartoma syndrome is typically based on a combination of clinical features, family history, and genetic testing. Treatment may involve regular cancer screening and surveillance, as well as surgical removal of benign or malignant growths as needed.
Hypothalamic diseases refer to conditions that affect the hypothalamus, a small but crucial region of the brain responsible for regulating many vital functions in the body. The hypothalamus helps control:
1. Body temperature
2. Hunger and thirst
3. Sleep cycles
4. Emotions and behavior
5. Release of hormones from the pituitary gland
Hypothalamic diseases can be caused by genetic factors, infections, tumors, trauma, or other conditions that damage the hypothalamus. Some examples of hypothalamic diseases include:
1. Hypothalamic dysfunction syndrome: A condition characterized by various symptoms such as obesity, sleep disturbances, and hormonal imbalances due to hypothalamic damage.
2. Kallmann syndrome: A genetic disorder that affects the development of the hypothalamus and results in a lack of sexual maturation and a decreased sense of smell.
3. Prader-Willi syndrome: A genetic disorder that causes obesity, developmental delays, and hormonal imbalances due to hypothalamic dysfunction.
4. Craniopharyngiomas: Tumors that develop near the pituitary gland and hypothalamus, often causing visual impairment, hormonal imbalances, and growth problems.
5. Infiltrative diseases: Conditions such as sarcoidosis or histiocytosis can infiltrate the hypothalamus, leading to various symptoms related to hormonal imbalances and neurological dysfunction.
6. Traumatic brain injury: Damage to the hypothalamus due to head trauma can result in various hormonal and neurological issues.
7. Infections: Bacterial or viral infections that affect the hypothalamus, such as encephalitis or meningitis, can cause damage and lead to hypothalamic dysfunction.
Treatment for hypothalamic diseases depends on the underlying cause and may involve medications, surgery, hormone replacement therapy, or other interventions to manage symptoms and improve quality of life.
Brunner glands, also known as submucosal glands of Brunner, are tubulo-acinar exocrine glands located in the submucosa of the duodenum, which is the first part of the small intestine. These glands secrete alkaline mucus that helps neutralize the acidic chyme (partially digested food) entering from the stomach, providing a more favorable environment for the enzymes involved in nutrient absorption and protecting the duodenal mucosa from acid-induced damage.
Wnt receptors are a group of cell surface proteins that play a crucial role in the Wnt signaling pathway. This pathway is essential for various biological processes during embryonic development and tissue regeneration in adults, including cell proliferation, differentiation, migration, and survival. The Wnt receptors can be broadly classified into two categories:
1. Frizzled (FZD) receptors: These are seven-transmembrane domain proteins that serve as the primary receptors for Wnt ligands. There are ten FZD receptor subtypes (FZD1-10) in humans, and they interact with different Wnt proteins to initiate distinct signaling cascades.
2. Low-density lipoprotein receptor-related protein (LRP) co-receptors: LRP5 and LRP6 are single-pass transmembrane proteins that function as co-receptors for Wnt ligands, typically in conjunction with FZD receptors. They contribute to the stabilization of the Wnt signaling complex and help amplify downstream signals.
The binding of a Wnt ligand to a FZD receptor and an LRP co-receptor triggers various intracellular signaling pathways, such as the canonical Wnt/β-catenin pathway or non-canonical Wnt pathways (e.g., Wnt/Ca^2+^ and planar cell polarity pathways). Dysregulation of Wnt receptors and their associated signaling pathways has been implicated in several diseases, including cancer, developmental disorders, and degenerative conditions.
Duodenal diseases refer to a range of medical conditions that affect the duodenum, which is the first part of the small intestine. Here are some examples of duodenal diseases:
1. Duodenitis: This is inflammation of the duodenum, which can cause symptoms such as abdominal pain, nausea, vomiting, and bloating. Duodenitis can be caused by bacterial or viral infections, excessive use of nonsteroidal anti-inflammatory drugs (NSAIDs), or chronic inflammation due to conditions like Crohn's disease.
2. Peptic ulcers: These are sores that develop in the lining of the duodenum, usually as a result of infection with Helicobacter pylori bacteria or long-term use of NSAIDs. Symptoms can include abdominal pain, bloating, and heartburn.
3. Duodenal cancer: This is a rare type of cancer that affects the duodenum. Symptoms can include abdominal pain, weight loss, and blood in the stool.
4. Celiac disease: This is an autoimmune disorder that causes the immune system to attack the lining of the small intestine in response to gluten, a protein found in wheat, barley, and rye. This can lead to inflammation and damage to the duodenum.
5. Duodenal diverticulosis: This is a condition in which small pouches form in the lining of the duodenum. While many people with duodenal diverticulosis do not experience symptoms, some may develop complications such as inflammation or infection.
6. Duodenal atresia: This is a congenital condition in which the duodenum does not form properly, leading to blockage of the intestine. This can cause symptoms such as vomiting and difficulty feeding in newborns.
While I'm an assistant and not a doctor, I can share that laughter is not typically defined in a medical context. However, it's often studied in the field of psychology and health. Laughter is a human behavior characterized by involuntary vocalizations and facial expressions, often associated with positive emotions and humor.
From a physiological perspective, when we laugh, our bodies respond with a series of reactions. The diaphragm and abdominal muscles contract, causing us to breathe in and out rapidly, which can lead to increased heart rate and blood pressure. At the same time, the brain releases endorphins, which are chemicals associated with feelings of happiness and well-being.
In a medical context, laughter is sometimes used as a therapeutic tool. Laughter therapy, for instance, is used to promote physical and emotional health through intentional laughter exercises. It's believed that laughter can help reduce stress, improve mood, boost the immune system, and alleviate pain.
Nose diseases, also known as rhinologic disorders, refer to a wide range of conditions that affect the nose and its surrounding structures. These may include:
1. Nasal Allergies (Allergic Rhinitis): An inflammation of the inner lining of the nose caused by an allergic reaction to substances such as pollen, dust mites, or mold.
2. Sinusitis: Inflammation or infection of the sinuses, which are air-filled cavities in the skull that surround the nasal cavity.
3. Nasal Polyps: Soft, fleshy growths that develop on the lining of the nasal passages or sinuses.
4. Deviated Septum: A condition where the thin wall (septum) between the two nostrils is displaced to one side, causing difficulty breathing through the nose.
5. Rhinitis Medicamentosa: Nasal congestion caused by overuse of decongestant nasal sprays.
6. Nosebleeds (Epistaxis): Bleeding from the nostrils, which can be caused by a variety of factors including dryness, trauma, or underlying medical conditions.
7. Nasal Fractures: Breaks in the bone structure of the nose, often caused by trauma.
8. Tumors: Abnormal growths that can occur in the nasal passages or sinuses. These can be benign or malignant.
9. Choanal Atresia: A congenital condition where the back of the nasal passage is blocked, often by a thin membrane or bony partition.
10. Nasal Valve Collapse: A condition where the side walls of the nose collapse inward during breathing, causing difficulty breathing through the nose.
These are just a few examples of the many diseases that can affect the nose.
Tongue diseases refer to various medical conditions that affect the structure, function, or appearance of the tongue. These conditions can be categorized into several types, including:
1. Infections: Bacterial, viral, or fungal infections can cause tongue inflammation (glossitis), pain, and ulcers. Common causes include streptococcus, herpes simplex, and candida albicans.
2. Traumatic injuries: These can result from accidental bites, burns, or irritation caused by sharp teeth, dental appliances, or habitual habits like tongue thrusting or chewing.
3. Neoplasms: Both benign and malignant growths can occur on the tongue, such as papillomas, fibromas, and squamous cell carcinoma.
4. Congenital disorders: Some individuals may be born with abnormalities of the tongue, like ankyloglossia (tongue-tie) or macroglossia (enlarged tongue).
5. Neurological conditions: Certain neurological disorders can affect tongue movement and sensation, such as Bell's palsy, stroke, or multiple sclerosis.
6. Systemic diseases: Various systemic conditions can have symptoms that manifest on the tongue, like diabetes mellitus (which can cause dryness and furring), iron deficiency anemia (which may lead to atrophic glossitis), or Sjögren's syndrome (which can result in xerostomia).
7. Idiopathic: In some cases, the cause of tongue symptoms remains unknown, leading to a diagnosis of idiopathic glossitis or burning mouth syndrome.
Proper diagnosis and treatment of tongue diseases require a thorough examination by a healthcare professional, often involving a dental or medical specialist such as an oral pathologist, otolaryngologist, or dermatologist.
Median neuropathy, also known as Carpal Tunnel Syndrome, is a common entrapment neuropathy caused by compression of the median nerve at the wrist level. The median nerve provides sensation to the palm side of the thumb, index finger, middle finger, and half of the ring finger. It also innervates some of the muscles that control movement of the fingers and thumb.
In median neuropathy, the compression of the median nerve can cause symptoms such as numbness, tingling, and weakness in the affected hand and fingers. These symptoms may be worse at night or upon waking up in the morning, and can be exacerbated by activities that involve repetitive motion of the wrist, such as typing or using tools. If left untreated, median neuropathy can lead to permanent nerve damage and muscle wasting in the hand.
Splenic diseases refer to a range of medical conditions that affect the structure, function, or health of the spleen. The spleen is an organ located in the upper left quadrant of the abdomen, which plays a vital role in filtering the blood and fighting infections. Some common splenic diseases include:
1. Splenomegaly: Enlargement of the spleen due to various causes such as infections, liver disease, blood disorders, or cancer.
2. Hypersplenism: Overactivity of the spleen leading to excessive removal of blood cells from circulation, causing anemia, leukopenia, or thrombocytopenia.
3. Splenic infarction: Partial or complete blockage of the splenic artery or its branches, resulting in tissue death and potential organ dysfunction.
4. Splenic rupture: Traumatic or spontaneous tearing of the spleen capsule, causing internal bleeding and potentially life-threatening conditions.
5. Infections: Bacterial (e.g., sepsis, tuberculosis), viral (e.g., mononucleosis, cytomegalovirus), fungal (e.g., histoplasmosis), or parasitic (e.g., malaria) infections can affect the spleen and cause various symptoms.
6. Hematologic disorders: Conditions such as sickle cell disease, thalassemia, hemolytic anemias, lymphomas, leukemias, or myeloproliferative neoplasms can involve the spleen and lead to its enlargement or dysfunction.
7. Autoimmune diseases: Conditions like rheumatoid arthritis, systemic lupus erythematosus, or vasculitis can affect the spleen and cause various symptoms.
8. Cancers: Primary (e.g., splenic tumors) or secondary (e.g., metastatic cancer from other organs) malignancies can involve the spleen and lead to its enlargement, dysfunction, or rupture.
9. Vascular abnormalities: Conditions such as portal hypertension, Budd-Chiari syndrome, or splenic vein thrombosis can affect the spleen and cause various symptoms.
10. Trauma: Accidental or intentional injuries to the spleen can lead to bleeding, infection, or organ dysfunction.
Eccrine glands are the most numerous type of sweat glands in the human body, found in virtually all skin locations. They play a crucial role in thermoregulation by producing a watery sweat that cools the body when it evaporates on the skin surface. These glands are distributed over the entire body, with a higher concentration on the soles of the feet, palms of the hands, and forehead.
Structurally, eccrine glands consist of two main parts: the coiled secretory portion located in the dermis and the straight duct that extends through the dermis and epidermis to reach the skin surface. The secretory portion is lined with a simple cuboidal epithelium, while the duct is lined with a simple squamous or low cuboidal epithelium.
Eccrine glands are stimulated to produce sweat by the activation of the sympathetic nervous system, particularly through the release of acetylcholine at the neuro-glandular junction. The sweat produced is primarily water with small amounts of electrolytes, such as sodium, chloride, and potassium. This composition helps maintain the body's electrolyte balance while facilitating heat loss during physical exertion or in hot environments.
Hamartoma
Leiomyomatous hamartoma
Bile duct hamartoma
Basaloid follicular hamartoma
Folliculosebaceous cystic hamartoma
Tuber cinereum hamartoma
Eccrine angiomatous hamartoma
Multiple hamartoma syndrome
Dermal dendrocyte hamartoma
Folliculosebaceous-apocrine hamartoma
Congenital smooth muscle hamartoma
Fibrous hamartoma of infancy
Benign tumor
Bannayan-Riley-Ruvalcaba syndrome
Caretaker gene
Alan L. Schiller
Cushing's syndrome
Choristoma
Death from laughter
Santosh G. Honavar
Macrodystrophia lipomatosa
PDGFA
Popcorn calcification
Ostravik-Lindemann-Solberg syndrome
Horse tongue
Pallister-Hall syndrome
Local gigantism
Proteus syndrome
Michelin tire baby syndrome
Alice McPherson
Hamartoma - Wikipedia
Hamartoma: Practice Essentials, Pathophysiology, Etiology
Hamartoma and lentiginosis syndromes: clinical and molecular aspects
Combined hamartoma » New York Eye Cancer Center
Hamartoma (patient information) - wikidoc
Comprehensive PTEN Hamartoma Tumor Syndrome (PHTS) Multidisciplinary Clinic | Children's Hospital of Philadelphia
congenital heart defects, hamartomas of tongue, and polysyndactyly Disease Ontology Browser - DOID:0111591
Extracerebral intracranial glioneural hamartoma with extension into the parapharyngeal space. | American Journal of...
Hypocellular Plaque-Like CD34-Positive Dermal Fibroma (Medallion-Like Dermal Dendrocyte Hamartoma) Presenting as a Skin-Colored...
Breast hamartoma | Radiology Case | Radiopaedia.org
Neuromuscular and vascular hamartoma: is it a true hamartoma? | Journal of Clinical Pathology
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome | Journal of Medical Genetics
Angiomyomatous Hamartoma - CheckOrphan
Transsphenoidal (Large Craniopharyngeal) Canal Associated with a Normally Functioning Pituitary Gland and Nasopharyngeal...
Child with temporal lobe hamartoma: A to Z images and a case report - ecancer
Congenital and Hereditary Neoplasms and Hamartomas in Animals - Integumentary System - MSD Veterinary Manual
HYPOTHALAMIC HAMARTOMA
Pediatric Breast Disorders: Background, Embryology and Breast Development, Congenital Breast Anomalies
respiratory epithelial adenomatous hamartoma - BosnianPathology
PTEN Hamartoma Tumor syndrome - Ordering
Basaloid follicular hamartoma | Rare Diseases | RareGuru
pathologue.com - Ectopic meningioma / Meningothelial hamartoma
Lipofibromatous Hamartoma: Overview, Pathophysiology and Etiology, Epidemiology
Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas | Acta...
Slowing - Hope for Hypothalamic Hamartomas
Hypothalamic hamartoma report of one case to precocious puberty
The microbiome in PTEN hamartoma tumor syndrome | PTEN Foundation
"Hamartoma of hypothalamus"[Clinical Features] OR 137970[uid] - MedGen -...
Tumor syndrome5
- 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)
Syndrome12
- 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)
Tumors6
- 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)
Hypothalamus2
- 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)
Breast hamartoma3
- 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)
Mesenchymal hamartoma12
- 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 Hamartomas8
- 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)
Retinal pigment ep5
- 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)
Neoplasm6
- 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)
Tuber cinereum2
- 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)
Tuberous sclerosis1
- 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)
Bronchial1
- A paraffin-embedded tissue sample from the removed mass was diagnosed as a bronchial hamartoma. (cdc.gov)
Tumour1
- Endobronchial hamartoma (EH) represents nearly 10% of all lung hamartomas, the most common benign lung tumour. (journalpulmonology.org)
Vascular hamartoma3
- 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)
Pulmonary hamartoma1
- We report on a C. baileyi infection associated with pulmonary hamartoma in an immunocompetent patient in Poland. (cdc.gov)
Syndromes3
- 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)
Diagnosis3
- 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)
Computed tomography1
- Lung hamartomas may have popcorn-like calcifications on chest xray or computed tomography (CT scan). (wikipedia.org)
Lung5
- 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)
Anomalies1
- Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. (beds.ac.uk)
Lesion1
- 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)
Duodenum1
- 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)
Pathophysiology1
- The pathophysiology of lipofibromatous hamartoma (LFH) is unknown. (medscape.com)
Genes1
- The development of hamartomas has also been linked to certain genes such as SMAD4, PTEN, STK1, and BMPR1A. (wikipedia.org)
Cardiac4
- 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)
Abnormal formation2
- 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)
Pediatric1
- Podeanu MD, Marian C, Copotoiu C, Brânzaniuc K, Stolnicu S. Angiomatous hamartoma of the breast: a new entity developing in pediatric patients. (rrml.ro)
Patients3
- 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)
Precocious2
- 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)
Seizures4
- 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)
Arise1
- Hamartomas are tumor-like masses composed of disorganized benign cells and tissues that are indigenous to the organ/site where they arise. (webpathology.com)
Hamartia1
- The term hamartoma is from the Greek ἁμαρτία, hamartia ("error"), and was introduced by D.P.G. Albrecht in 1904. (wikipedia.org)
Infancy4
- 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)
Endocrine1
- Some children with a hypothalamic hamartoma may have endocrine (hormonal) disturbances. (barrowneuro.org)
Rare benign1
- 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)
Mass1
- The MR imaging findings of the mass were consistent with hypothalamic hamartoma ( Fig. 1B ). (ajronline.org)
Kidneys1
- 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)
Multiple1
- Hamartomas are most likely the result of developmental error and can manifest itself in multiple locations. (wikipedia.org)
Liver1
- 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)
Masses1
- Pulmonary hamartomas are peripherally located, solitary, and well-demarcated masses. (webpathology.com)
Typically1
- The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. (medlineplus.gov)
Occur2
- 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)
Fibromas1
- 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)