Hamartoma
Hamartoma Syndrome, Multiple
Proto-Oncogene Proteins c-ret
Tuberous Sclerosis
PTEN Phosphohydrolase
Phosphoric Monoester Hydrolases
Hypothalamic Diseases
Tumor Suppressor Proteins
Brunner Glands
Receptors, Wnt
Laughter
Duodenal Diseases
Tongue Diseases
Down Syndrome
Metabolic Syndrome X
Median Neuropathy
Polymorphisms in PTEN in breast cancer families. (1/132)
Germline mutations in PTEN are the underlying genetic defect in Cowden disease, which is associated with a lifetime risk of 25-50% of developing breast cancer. To investigate the role of PTEN in inherited breast cancer in the absence of manifestations of Cowden disease, we screened 177 unrelated subjects with breast cancer who also had a family history of breast cancer in at least one relative. We found no disease associated PTEN mutations in this cohort, supporting previous studies suggesting that PTEN mutations do not contribute to inherited susceptibility to breast cancer without associated manifestations of Cowden disease. We did identify an association between a common polymorphism in intron 4 and lower mean age of diagnosis of breast cancer. While preliminary, these findings suggest that further study is warranted to determine whether this allelic variant of PTEN could function as a low penetrance breast cancer susceptibility allele. (+info)Regulation of G1 progression by the PTEN tumor suppressor protein is linked to inhibition of the phosphatidylinositol 3-kinase/Akt pathway. (2/132)
PTEN/MMAC1 is a tumor suppressor gene located on chromosome 10q23. Inherited PTEN/MMAC1 mutations are associated with a cancer predisposition syndrome known as Cowden's disease. Somatic mutation of PTEN has been found in a number of malignancies, including glioblastoma, melanoma, and carcinoma of the prostate and endometrium. The protein product (PTEN) encodes a dual-specificity protein phosphatase and in addition can dephosphorylate certain lipid substrates. Herein, we show that PTEN protein induces a G1 block when reconstituted in PTEN-null cells. A PTEN mutant associated with Cowden's disease (PTEN;G129E) has protein phosphatase activity yet is defective in dephosphorylating inositol 1,3,4,5-tetrakisphosphate in vitro and fails to arrest cells in G1. These data suggest a link between induction of a cell-cycle block by PTEN and its ability to dephosphorylate, in vivo, phosphatidylinositol 3,4,5-trisphosphate. In keeping with this notion, PTEN can inhibit the phosphatidylinositol 3,4, 5-trisphosphate-dependent Akt kinase, a downstream target of phosphatidylinositol 3-kinase, and constitutively active, but not wild-type, Akt overrides a PTEN G1 arrest. Finally, tumor cells lacking PTEN contain high levels of activated Akt, suggesting that PTEN is necessary for the appropriate regulation of the phosphatidylinositol 3-kinase/Akt pathway. (+info)Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjogren's syndrome. (3/132)
Cowden disease is an autosomal dominant disorder associated with an increased risk of breast, thyroid, and skin cancer in which germline mutations in a candidate tumour suppressor gene (PTEN) have been identified previously. Sjogren's syndrome is a chronic inflammatory and autoimmune disorder of exocrine glands for which the genetic basis is unknown. This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjogren's syndrome. This observation raises the possibility of a link between mutations in the PTEN gene and Sjogren's syndrome. (+info)Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations. (4/132)
Cowden disease (CD) is characterised by multiple hamartomas in a variety of tissues. The pathological hallmark is the presence of a number of trichilemmomas. Several neurological symptoms are also part of CD with megalencephaly and Lhermitte-Duclos disease (LDD) as the most important features. Early recognition of CD patients is important because of the increased risk of developing malignancies. Breast cancer is the most frequent malignancy, but also urogenital, digestive tract, and thyroid cancers are found with higher frequencies. CD was localised to chromosome 10q23 and the PTEN gene (also known as MMAC1 or TEP1) was shown to be involved. Germline mutations were identified in both familial and sporadic CD patients. We identified eight PTEN mutations, of which seven were novel, in 13 CD patients. Combined with previous data we have identified 17 independent CD mutations. Gross DNA alterations in CD patients were not detected. Genotype-phenotype relations are discussed. The only correlation suggested to exist is that missense mutations are not detected in LDD patients. However, larger numbers are needed to confirm this. Association of PTEN mutations and the occurrence of malignant breast disease found in an earlier study cannot be confirmed. Clinical features of five CD patients without a PTEN mutation in the coding sequence do not differ from CD patients with a PTEN mutation. Furthermore, it is likely that we have identified the majority of CD patients in the Netherlands. From this we estimate that CD has a prevalence of about 1 in 250,000 in the Dutch population with a low mutation frequency. (+info)Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. (5/132)
Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders, suggesting allelism. We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS. To our knowledge, this is the first report that shows the presence of separate subjects with CS and with BZS in a single family associated with a single germline PTEN mutation. (+info)PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. (6/132)
Germline mutations in the tumour suppressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR). PTEN maps to 10q23 and encodes a dual specificity phosphatase, a substrate of which is phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway. CS is characterized by multiple hamartomas and an increased risk of benign and malignant disease of the breast, thyroid and central nervous system, whilst the presence of cancer has not been formally documented in BRR. The partial clinical overlap in these two syndromes is exemplified by the hallmark features of BRR: macrocephaly and multiple lipomas, the latter of which occur in a minority of individuals with CS. Additional features observed in BRR, which may also occur in a minority of CS patients, include Hashimoto's thyroiditis, vascular malformations and mental retardation. Pigmented macules of the glans penis, delayed motor development and neonatal or infant onset are noted only in BRR. In this study, constitutive DNA samples from 43 BRR individuals comprising 16 sporadic and 27 familial cases, 11 of which were families with both CS and BRR, were screened for PTEN mutations. Mutations were identified in 26 of 43 (60%) BRR cases. Genotype-phenotype analyses within the BRR group suggested a number of correlations, including the association of PTEN mutation and cancer or breast fibroadenoma in any given CS, BRR or BRR/CS overlap family ( P = 0.014), and, in particular, truncating mutations were associated with the presence of cancer and breast fibroadenoma in a given family ( P = 0.024). Additionally, the presence of lipomas was correlated with the presence of PTEN mutation in BRR patients ( P = 0.028). In contrast to a prior report, no significant difference in mutation status was found in familial versus sporadic cases of BRR ( P = 0.113). Comparisons between BRR and a previously studied group of 37 CS families suggested an increased likelihood of identifying a germline PTEN mutation in families with either CS alone or both CS and BRR when compared with BRR alone ( P = 0.002). Among CS, BRR and BRR/CS overlap families that are PTEN mutation positive, the mutation spectra appear similar. Thus, PTEN mutation-positive CS and BRR may be different presentations of a single syndrome and, hence, both should receive equal attention with respect to cancer surveillance. (+info)Transcatheter embolization of arteriovenous malformations in Cowden disease. (7/132)
A patient with Cowden disease and multiple arteriovenous malformations (AVMs) that resulted in high output heart failure is described. Cowden disease is a familial syndrome characterized by endodermal, mesodermal and ectodermal dysplasia causing benign and malignant tumors of the skin, breast, gastrointestinal tract, and thyroid gland. Our patient had gastrointestinal polyposis, a right renal tumor, a left lung tumor, an adenomatous goiter, and typical dermatologic findings such as facial papules, acral keratosis, gingival papillomatosis and hemangiomas. AVMs were observed in the pelvis, cervical vertebra, liver, and right supraclavicular area. Transcatheter embolization was performed 7 times for the pelvic AVMs, but the effect decreased with repetition and the patient died of heart failure 2 years after the first embolization. The serum levels of tissue plasminogen activator (t-PA), platelet-derived growth factor (PDGF), hepatocyte growth factor (HGF), vascular endothelial growth factor (VEGF), and transforming growth factor beta1 were high, suggesting that these angiogenic molecules may play a role in the pathogenesis of AVMs in Cowden disease. (+info)Cowden's disease diagnosed through mucocutaneous lesions and gastrointestinal polyposis with recurrent hematochezia, unrevealed by initial diagnosis. (8/132)
A 51-year-old man was admitted to our hospital because of hematochezia and painful keratotic plaques involving both hands. He had gastrointestinal polyposis, and a history of liver hemangiomas and thyroid tumor. Numerous papules on the face and papillomatosis on the oral mucosa were present. A diagnosis was made as a typical case of Cowden's disease according to the criteria proposed by Salem and Steck (J Am Acad Dermatol 8: 686, 1983). The patient was not correctly diagnosed initially in spite of typical manifestations of Cowden's disease, mainly due to his concomitant manifestations which occurred chronologically. (+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.
Proto-oncogene proteins c-RET are a group of gene products that play crucial roles in the development and functioning of the nervous system, as well as in other tissues. The c-RET proto-oncogene encodes a receptor tyrosine kinase, which is a type of enzyme that helps transmit signals from the outside to the inside of cells. This receptor is activated by binding to its ligands, leading to the activation of various signaling pathways that regulate cell growth, differentiation, and survival.
Mutations in the c-RET proto-oncogene can lead to its overactivation, resulting in the conversion of this gene into an oncogene. Oncogenes are genes that have the potential to cause cancer when they are mutated or abnormally expressed. Activating mutations in c-RET have been implicated in several types of human cancers, including multiple endocrine neoplasia type 2 (MEN2), papillary thyroid carcinoma, and certain types of lung and kidney cancers. These mutations can lead to the constitutive activation of c-RET, resulting in uncontrolled cell growth and tumor formation.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that causes non-cancerous (benign) tumors to grow in many parts of the body. These tumors can affect the brain, skin, heart, kidneys, eyes, and lungs. The signs and symptoms of TSC can vary widely, depending on where the tumors develop and how severely a person is affected.
The condition is caused by mutations in either the TSC1 or TSC2 gene, which regulate a protein that helps control cell growth and division. When these genes are mutated, the protein is not produced correctly, leading to excessive cell growth and the development of tumors.
TSC is typically diagnosed based on clinical symptoms, medical imaging, and genetic testing. Treatment for TSC often involves a multidisciplinary approach, with specialists in neurology, dermatology, cardiology, nephrology, pulmonology, and ophthalmology working together to manage the various symptoms of the condition. Medications, surgery, and other therapies may be used to help control seizures, developmental delays, skin abnormalities, and other complications of TSC.
PTEN phosphohydrolase, also known as PTEN protein or phosphatase and tensin homolog deleted on chromosome ten, is a tumor suppressor protein that plays a crucial role in regulating cell growth and division. It works by dephosphorylating (removing a phosphate group from) the lipid second messenger PIP3, which is involved in signaling pathways that promote cell proliferation and survival. By negatively regulating these pathways, PTEN helps to prevent uncontrolled cell growth and tumor formation. Mutations in the PTEN gene can lead to a variety of cancer types, including breast, prostate, and endometrial cancer.
Phosphoric monoester hydrolases are a class of enzymes that catalyze the hydrolysis of phosphoric monoesters into alcohol and phosphate. This class of enzymes includes several specific enzymes, such as phosphatases and nucleotidases, which play important roles in various biological processes, including metabolism, signal transduction, and regulation of cellular processes.
Phosphoric monoester hydrolases are classified under the EC number 3.1.3 by the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology (IUBMB). The enzymes in this class share a common mechanism of action, which involves the nucleophilic attack on the phosphorus atom of the substrate by a serine or cysteine residue in the active site of the enzyme. This results in the formation of a covalent intermediate, which is then hydrolyzed to release the products.
Phosphoric monoester hydrolases are important therapeutic targets for the development of drugs that can modulate their activity. For example, inhibitors of phosphoric monoester hydrolases have been developed as potential treatments for various diseases, including cancer, neurodegenerative disorders, and infectious diseases.
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.
Tumor suppressor proteins are a type of regulatory protein that helps control the cell cycle and prevent cells from dividing and growing in an uncontrolled manner. They work to inhibit tumor growth by preventing the formation of tumors or slowing down their progression. These proteins can repair damaged DNA, regulate gene expression, and initiate programmed cell death (apoptosis) if the damage is too severe for repair.
Mutations in tumor suppressor genes, which provide the code for these proteins, can lead to a decrease or loss of function in the resulting protein. This can result in uncontrolled cell growth and division, leading to the formation of tumors and cancer. Examples of tumor suppressor proteins include p53, Rb (retinoblastoma), and BRCA1/2.
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.
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.
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.
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.
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.
Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.
People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.
The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.
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.
Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:
1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater
Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.
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.
Human chromosome pair 10 refers to a group of genetic materials that are present in every cell of the human body. Chromosomes are thread-like structures that carry our genes and are located in the nucleus of most cells. They come in pairs, with one set inherited from each parent.
Chromosome pair 10 is one of the 22 autosomal chromosome pairs, meaning they contain genes that are not related to sex determination. Each member of chromosome pair 10 is a single, long DNA molecule that contains thousands of genes and other genetic material.
Chromosome pair 10 is responsible for carrying genetic information that influences various traits and functions in the human body. Some of the genes located on chromosome pair 10 are associated with certain medical conditions, such as hereditary breast and ovarian cancer syndrome, neurofibromatosis type 1, and Waardenburg syndrome type 2A.
It's important to note that while chromosomes carry genetic information, not all variations in the DNA sequence will result in a change in phenotype or function. Some variations may have no effect at all, while others may lead to changes in how proteins are made and function, potentially leading to disease or other health issues.
Multiple hamartoma syndrome
Hamartoma
Alan L. Schiller
Lhermitte-Duclos disease
Proteus-like syndrome
Perlman syndrome
Tuber cinereum hamartoma
Michelin tire baby syndrome
Bannayan-Riley-Ruvalcaba syndrome
SDHD
Benign tumor
PTEN (gene)
Cronkhite-Canada syndrome
List of syndromes
Juvenile polyposis syndrome
Cowden syndrome
Macrocephaly
Macrodystrophia lipomatosa
Legius syndrome
Curry-Jones syndrome
Luis Valdés
Tongue disease
Syringoma
Asymptomatic
Heterochromia iridum
Cushing's syndrome
Hereditary breast-ovarian cancer syndrome
GLI2
List of diseases (F)
Epilepsy
Multiple hamartoma syndrome - Wikipedia
Cowden Disease (Multiple Hamartoma Syndrome): Practice Essentials, Background, Pathophysiology
Hamartoma and lentiginosis syndromes: clinical and molecular aspects
Cowden syndrome: MedlinePlus Genetics
Comprehensive PTEN Hamartoma Tumor Syndrome (PHTS) Multidisciplinary Clinic | Children's Hospital of Philadelphia
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
Pleomorphic Sclerotic Fibroma | Dermatology | Karger Publishers
Mammalian target of rapamycin (mTOR) inhibitors in dermatology - Indian Journal of Dermatology, Venereology and Leprology
Pediatric Cancer Genetic Risk Program - Dana-Farber Cancer Institute | Boston, MA
New Guidelines Target Cancer Risk in Rare GI Syndromes | MedPage Today
Etiology
Congenital and Hereditary Neoplasms and Hamartomas in Animals - Integumentary System - MSD Veterinary Manual
Colorectal Cancer Guidelines: Colorectal Cancer Screening, Postpolypectomy Surveillance, Familial Adenomatous Polyposis
Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas | Acta...
PTEN Hamartoma Tumor syndrome - Ordering
Cowden Syndrome - My Cancer Genome
Neurocutaneous Disorders: Tuberous Sclerosis Complex and Sturge-Weber Syndrome
Heart defect - tongue hamartoma - polysyndactyly syndrome (Concept Id: C1857587)
- MedGen - NCBI
PTEN: Tumor Syndrome | Custom Gene Sequencing
Dermatologic Manifestations of Gastrointestinal Disease: Overview, Dermatology and the Pharynx, Dermatology and the Esophagus
14 Symptoms Of Ovarian Cancer In Teens And Survival Rate
Adjunct mTOR Inhibition Improves Treatment Durability in PTEN Mutation-Associated Cranial Dural Arteriovenous Fistulas - cns.org
Mental Retardation and Dermatoglyphics in a Family With the Oral-Facial-Digital Syndrome | JAMA Pediatrics | JAMA Network
urofacial syndrome - Ontology Browser - Rat Genome Database
Ingeniería de Sistemas e Informática - Resultados de investigación
- Universidad Nacional Mayor de San Marcos
Chikako Ogawa - Research output - Okayama University
Cancer Death Comes Early in India
Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI - Zurich Open Repository and Archive
What is a Romberg Test & What Can Cause a Positive Romberg Test?
Imaging findings in systemic childhood diseases presenting with dermatologic manifestations<...
Termed Cowden syndrome1
- Cowden disease, also termed Cowden syndrome and multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that can be associated with a mutation in the PTEN gene on arm 10q, as reported by Liaw et al. (medscape.com)
PHTS13
- Some articles include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and at least some forms of Proteus syndrome and Proteus-like syndrome under the umbrella term PTEN hamartoma tumor syndromes (PHTS). (wikipedia.org)
- 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)
- The PHTS Clinic manages and coordinates treatment with multiple subspecialists for each individual patient, based on their specific needs. (chop.edu)
- Hamartomatous polyposis syndromes comprise a variety of disorders -- juvenile polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), hereditary mixed polyposis syndrome, as well as PTEN hamartoma tumor syndromes (PHTS) such as Bannayan-Riley-Ruvalcaba syndrome and Cowden's syndrome. (medpagetoday.com)
- Individuals with multiple ganglioneuromas or gastrointestinal hamartomas should be genetically evaluated for Cowden's syndrome and other PHTS-related conditions. (medpagetoday.com)
- PHTS is associated with predisposition for benign and malignant hamartoma tumors and includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome, and Proteus-like syndrome. (cincinnatichildrens.org)
- PTEN hamartoma tumor syndromes (PHTS) result from germline mutations to the PTEN tumor suppressor gene which can manifest in the brain as arteriovenous malformations or dural arteriovenous fistulae (dAVF). (cns.org)
- By the conclusion of this session, participants should be able to: 1) Recognize PTEN hamartoma tumor syndromes (PHTS) result from germline mutations to the PTEN tumor suppressor gene which can manifest in the brain as arteriovenous malformations or dural arteriovenous fistulae. (cns.org)
- PTEN hamartoma tumor syndrome (PHTS) is a spectrum of disorders caused by mutations in the PTEN gene, which typically suppresses formation of tumors. (rarediseasesnetwork.org)
- The test uncovered a mutation in the PTEN gene, which is responsible for a spectrum of conditions known collectively as PTEN hamartoma tumor syndrome (PHTS) . (childrenshospital.org)
- PHTS can cause benign tumors called hamartomas throughout the skin, gastrointestinal tract or vasculature, as well as neurodevelopmental issues such as autism and cancer. (childrenshospital.org)
- Mustafa Sahin, MD, PhD , director of the Translational Neuroscience Center at Boston Children's, has been exploring the pathway's role in central nervous system circuitry by studying PHTS and other genetic syndromes causing autism spectrum disorder, such as tuberous sclerosis and Phelan-McDermid syndrome . (childrenshospital.org)
Tumor syndromes2
- Up to 85% of reported mutations in association with PTEN-related hamartoma tumor syndromes are detectable by this test. (cincinnatichildrens.org)
- Blumenthal, G.M. and P.A. Dennis (2008) "PTEN Hamartoma Tumor Syndromes. (cincinnatichildrens.org)
Tumors11
- People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors. (medlineplus.gov)
- 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)
- Individuals with Cowden syndrome (CS) have an increased risk for tumors of the thyroid, breast, and endometrium. (cincinnatichildrens.org)
- Proteus syndrome (PS) is characterized by hemihypertrophy and subcutaneous tumors with Proteus-like syndrome referring to individuals with clinical features of PS that do not meet diagnostic criteria. (cincinnatichildrens.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)
- Patients with Proteus syndrome have difficulty ambulating because of toe macrodactyly, scoliosis, and joint instability, with frequent hip dislocations, expansive subcutaneous tumors, and compression neuropathies due to intraneural hamartomas. (medscape.com)
- Neurocutaneous syndromes are a group of neurologic (brain, spine, and peripheral nerve) disorders that can cause cutaneous (skin) manifestations, such as tumors that grow inside the brain, spinal cord, organs, skin, and skeletal bones. (epilepsy.com)
- The multiple lung nodules were diagnosed as metastatic tumors derived from thyroid cancer. (springeropen.com)
- Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. (msdmanuals.com)
- They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms). (findzebra.com)
Polyposis Syndromes2
- In a new set of guidelines, the U.S. Multi-Society Task Force on Colorectal Cancer offers various approaches to the diagnosis and management of cancer risk in patients with gastrointestinal hamartomatous polyposis syndromes. (medpagetoday.com)
- Jelsiq, A.M. and N. Qvist (2014) "Hamartomatous polyposis syndromes: A Review. (cincinnatichildrens.org)
Neoplasms1
- An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum. (mycancergenome.org)
Mutation5
- Traditionally, Cowden disease (multiple hamartoma syndrome) is caused by a mutation in the PTEN tumor suppressor gene (also termed MMAC1 or TEP1 ) on band 10q23.3. (medscape.com)
- 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)
- Approximately 80% of patients with CS, 60% patients with BRRS, 20% of patients with PS/PSL syndrome will have a PTEN mutation identifiable by sequencing. (cincinnatichildrens.org)
- Deletion/duplication analysis of PTEN will detect a mutation in about 10% of individuals with Bannayan-Riley-Ruvalcaba syndrome. (cincinnatichildrens.org)
- Autosomal dominant HEREDITARY CANCER SYNDROME in which a mutation most often in either BRCA1 or BRCA2 is associated with a significantly increased risk for breast and ovarian cancers. (umassmed.edu)
Cutaneous3
- PTEN (gene) List of cutaneous conditions List of syndromes Characteristics of syndromic ASD conditions James, William D. (wikipedia.org)
- Neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology. (uspharmacist.com)
- Neurofibromatosis type 1, Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome/loose anagen hair, Legius syndrome, Costello syndrome, cardio-facio-cutaneous syndrome and capillary malformation-arteriovenous malformation are the well-recognized RASopathies. (bvsalud.org)
Mutations11
- [ 5 ] A broader category, PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome includes Cowden disease (multiple hamartoma syndrome), Bannayan-Riley-Ruvulcaba syndrome (BRRS), Proteus syndrome , and Proteus-like syndrome, which all have PTEN mutations. (medscape.com)
- Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes. (medlineplus.gov)
- About 25 percent of Cowden syndrome and a small percentage of cases of Cowden-like syndrome result from mutations in the PTEN gene. (medlineplus.gov)
- however, research is needed to determine what role mutations in this gene play in causing the other features of Cowden syndrome, such as macrocephaly and intellectual disability. (medlineplus.gov)
- Clinical overlap between Cowden disease and Bannayan-Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ruvalcaba syndrome. (nih.gov)
- Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are prototypical neurocutaneous disorders in which genetic mutations in pathways regulating cell growth cause developmental dysfunction of the brain, skin, and other organs. (uspharmacist.com)
- Promoter analysis of PTEN will identify mutations in about 10% of patients with Cowden syndrome. (cincinnatichildrens.org)
- 2015) "Clinical Presentation of PTEN Mutations in Childhood in the Absence of Family History of Cowden Syndrome. (cincinnatichildrens.org)
- Patients suffering from vascular malformations associated with PTEN mutations often undergo multiple embolizations. (cns.org)
- Germline mutations of PTEN lead to inherited hamartoma and Cowden syndrome while somatic mutations are also known to occur in multiple malignancies. (cornell.edu)
- Germline TP53 mutations are associated with Li-Fraumeni syndrome, a rare autosomal dominant genetic disorder. (eurjbreasthealth.com)
Cowden Disease5
- Cowden disease is associated with the development of several types of malignancy, which is why recognition of individuals with the syndrome is important. (medscape.com)
- Because a large number of hamartomas and malignancies have been reported in patients with Cowden disease (multiple hamartoma syndrome), monitoring patients closely using appropriate laboratory procedures is essential. (medscape.com)
- Originally described in 1963 by Lloyd and Dennis, Cowden disease (multiple hamartoma syndrome) was named after the family in which it was first reported. (medscape.com)
- We report on a mother with Cowden disease and a son with Bannayan-Riley-Ruvalcaba syndrome. (nih.gov)
- This might suggest that Cowden disease and Bannayan-Riley-Ruvalcaba syndrome are one causal entity. (nih.gov)
Hamartomatous2
- Included in the recommendations are genetic evaluations -- and multigene panel test if warranted -- for those with at least two hamartomatous polyps, a family history of hamartomatous polyps, or a first- or second-degree relative with a hamartomatous polyposis syndrome-related cancer. (medpagetoday.com)
- Proteus syndrome (PS) is a sporadically occurring hamartomatous disorder associated with irregular asymmetric overgrowth of multiple body tissues and cell lineages. (medscape.com)
Neurocutaneous syndromes1
- Bilateral cases of CHRRPE are suggestive of phakomatoses (neurocutaneous syndromes), notably neurofibromatosis type 2 (NF2). (reviewofoptometry.com)
Proteus10
- [ 1 ] Most malformations in patients with Proteus syndrome have a mesodermal origin. (medscape.com)
- Premature death has been reported in 20% of Proteus syndrome patients, most often related to deep venous thrombosis leading to pulmonary embolus, postoperative complications, or pneumonia. (medscape.com)
- With appropriate medical and surgical care, patients with Proteus syndrome may age normally. (medscape.com)
- Patients present with the characteristic abnormalities of Proteus syndrome, many of which are not present at birth. (medscape.com)
- Sequelae in patients with Proteus syndrome include ambulatory difficulty due to toe macrodactyly, scoliosis, and joint instability, with frequent hip dislocations. (medscape.com)
- Pulmonary complications are a frequent cause of morbidity and mortality in Proteus syndrome patients. (medscape.com)
- Imaging studies are helpful to establish the diagnosis of Proteus syndrome and in tracking the progression of the disease. (medscape.com)
- See Proteus syndrome diagnostic criteria, category A, in Physical Examination . (medscape.com)
- The histologic findings in Proteus syndrome are specific to the particular type of lesion. (medscape.com)
- It includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome and Proteus-like syndrome. (childrenshospital.org)
Sturge-Weber Sy3
- Tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS) are prototypical neurocutaneous disorders. (uspharmacist.com)
- Sturge-Weber syndrome (SWS) is a condition resulting in abnormal blood vessel development in the brain, eyes, and skin at birth. (rarediseasesnetwork.org)
- Juhász C, Luat AF, Behen ME, Gjolaj N, Jeong JW, Chugani HT, Kumar A. Deep Venous Remodeling in Unilateral Sturge-Weber Syndrome: Robust Hemispheric Differences and Clinical Correlates. (rarediseasesnetwork.org)
Congenital anomalies1
- 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)
Cancer susceptibility2
- 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)
- Below are descriptions and criteria of all the other syndromes we see patients and screen for cancer susceptibility at Beaumont. (beaumont.org)
Rare autosomal dominant1
- Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. (bvsalud.org)
Clinical9
- Some people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. (medlineplus.gov)
- The consensus statement is comprehensive and summarizes the literature on the clinical features and cancer risks and provides guidance for clinicians regarding the molecular genetics of these disorders, approach to patient diagnosis, and importantly the suggested management of individuals with these syndromes," said co-author Carol A. Burke, MD, of the Cleveland Clinic. (medpagetoday.com)
- There is 1 clinical trial for cowden syndrome, of which 1 is open and 0 are completed or closed. (mycancergenome.org)
- PTEN is the most frequent gene inclusion criterion for cowden syndrome clinical trials [ 3 ]. (mycancergenome.org)
- Everolimus and placebo are the most common interventions in cowden syndrome clinical trials. (mycancergenome.org)
- PTEN is an inclusion eligibility criterion in 1 clinical trial for cowden syndrome, of which 1 is open and 0 are closed. (mycancergenome.org)
- The OFD syndrome is a multisystem condition in females, characterized by the occurrence of various clinical signs. (jamanetwork.com)
- 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)
- Clinical description PNETs, when functional, usually present in the 5th decade of life as various hypersecretion syndromes. (findzebra.com)
Genes2
- Knowledge of the susceptibility genes underlying their phenotypes has provided additional information for the classification of these syndromes. (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)
Predisposition2
- One NSLAD patient had a germline predisposition for Cowden syndrome. (johnshopkins.edu)
- At Beaumont, we are able to evaluate and counsel patients with less common hereditary predisposition syndromes. (beaumont.org)
Susceptibility1
- It is likely that in all of these syndromes, tumours develop against a background created by loss of the growth-suppressive function of their susceptibility gene via mechanisms including disruption of the cell cycle and the activation of anti-apoptotic pathways. (nih.gov)
Hypothalamic2
Familial1
- 5 to 10% of all pancreatic cancer cases are familial and are associated with a variety of hereditary cancer syndromes. (beaumont.org)
Growths2
- 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)
- Cowden's Syndrome is a condition that is characterized by multiple growths (called hamartomas) on various parts of the body. (madhatterpress.cloud)
Gene3
- Changes in the PTEN , KLLN , or WWP1 gene are most commonly identified in people with Cowden syndrome or Cowden-like syndrome. (medlineplus.gov)
- Rarely, Cowden syndrome and Cowden-like syndrome result from a change involving the KLLN gene. (medlineplus.gov)
- A small percentage of Cowden syndrome and Cowden-like syndrome are associated with variants in the WWP1 gene. (medlineplus.gov)
Cowden's5
- Lloyd KM, Dennis M: Cowden's disease: A possible new symptom complex with multiple system involvement. (karger.com)
- This syndrome includes Cowden's syndrome, Lhermitte-Duclos disease and Bannayan-Riley-Ruvalcaba syndrome. (cns.org)
- Patient 1, a 38-year-old woman with Cowden's syndrome and a dAVF had continued recurrence 2 months after the last embolization despite a good angiographic result and underwent craniotomy for surgical ligation of the dAVF. (cns.org)
- Patient 2, a 45-year-old man with Cowden's syndrome and a Cognard type III dAVF underwent a sub-occipital craniotomy for ligation of the residual dAVF, despite a good angiographic result following embolization. (cns.org)
- Cowden's Syndrome is a rare condition that affects 1 in every 200,000 people. (madhatterpress.cloud)
Tumours1
- These are characterized by multi-organ tumours and hamartomas. (bvsalud.org)
Abnormalities1
- The neonate developed breathing abnormalities and exhibited frontal bossing, multiple bucco-alveolar frenula, and postaxial hexadactyly of both hands. (uzh.ch)
Disorders2
- Primary progressive multiple sclerosis (PPMS) and hereditary spastic paraplegia (HSP) are inherited disorders affecting nerves that send messages to the muscles. (rarediseasesnetwork.org)
- It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. (actasdermo.org)
Lesions2
- Skin lesions found in TSC include ash leaf spots, Shagreen patches, and adenoma sebaceum (multiple smooth papules that are benign angiofibromas). (uspharmacist.com)
- Computed tomography (CT), performed in June 20XX, showed newly emerging lesions, such as multiple nodules in both lungs, a right axillary tumor, and the already-known hepatic lesion (multiple enlarged hepatic hemangiomas). (springeropen.com)
MTOR1
- Cowden syndrome associated renal cell carcinoma patients could benefit from mTOR and anti VEGF therapy, and potentially also by tyrosine kinase inhibitors. (sgo-iasgo.com)
Individuals3
- These individuals are often described as having Cowden-like syndrome. (medlineplus.gov)
- Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. (medlineplus.gov)
- CS is a rare hereditary syndrome with an estimated incidence of 1 in 200,000 individuals (2). (sgo-iasgo.com)
Seizures2
- Also known as epiloia or Pringle-Bourneville phacomatosis, TSC was initially described in the 19th century by Virchow and Von Recklinghausen, who identified hamartomas in the brain and heart during necropsy of patients with seizures and mental retardation. (uspharmacist.com)
- This would be the status epilepticus syndromes that are associated with acute seizures or an acute encephalopathy. (medscape.org)
Epilepsy1
- Differentiate epilepsy with epileptiform discharges during slow-wave sleep and the Landau-Kleffner syndrome from related conditions. (medscape.org)
Hepatobiliary2
- A 61-year-old man had been referred to the Department of Hepatobiliary and Pancreatic Surgery of our hospital for multiple hepatic giant hemangiomas with no significant progression, 5 years before his first visit to our department. (springeropen.com)
- It is a functional hepatic syndrome but can often present with biliary duct dilatation and can mimic other hepatobiliary pathologies such as cholangiocarcinoma 2 . (radiopaedia.org)
Symptoms1
- There are many symptoms, covering many body systems, for those with Cowden`s Syndrome. (madhatterpress.cloud)
Heterogeneity1
- Orloff, M.S. and C. Eng (2008) "Genetic and Phenotypic Heterogeneity in the PTEN Hamartoma Tumour Syndrome. (cincinnatichildrens.org)
Patients6
- These new recommendations are significant because they give specific guidance to this small subset of patients to look for genetic syndromes that may be important to them and to their family members," said David Greenwald, MD, of Mount Sinai Hospital in New York City, who was not involved in this recommendations. (medpagetoday.com)
- Thus, all patients with combined hamartoma of the retina and RPE require careful eye exams and detailed case history. (reviewofoptometry.com)
- Patients with Cowden syndrome (CS) have an increased lifetime risk of developing cancers, particularly breast, uterus, thyroid, colon and renal cell cancer. (sgo-iasgo.com)
- This review hypothesized that inactivation of PTEN could have dramatic consequences on response of treatments in patients with Cowden Syndrome. (sgo-iasgo.com)
- Complementary Tests for the Diagnosis and Follow-up of Pediatric Patients With Nevoid Basal Cell Carcinoma Syndrome. (actasdermo.org)
- The syndrome occurs in approximately 1 in every 1000 patients with gallstones 8 . (radiopaedia.org)
Established inherited1
- The field of genetics is rapidly changing, and we provide advanced options in genetic testing across the spectrum of new and established inherited cancer syndromes. (dana-farber.org)
Breast6
- Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. (medlineplus.gov)
- Hereditary Breast and Ovarian Cancer Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
- This graph shows the total number of publications written about "Hereditary Breast and Ovarian Cancer Syndrome" by people in this website by year, and whether "Hereditary Breast and Ovarian Cancer Syndrome" was a major or minor topic of these publications. (umassmed.edu)
- Below are the most recent publications written about "Hereditary Breast and Ovarian Cancer Syndrome" by people in Profiles. (umassmed.edu)
- The report is of a 45-year-old female patient with a history of high blood pressure and multiple surgeries for cancer, including thyroid cancer, parotid carcinoma, breast cancer, and endometrial cancer. (bvsalud.org)
- 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)
Spectrum1
- 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)
Skin6
- The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties. (medlineplus.gov)
- TSC is a multisystemic neurocutaneous genetic condition characterized by hamartomas that affect multiple organs, including the skin, central nervous system, heart, lungs, and kidney. (uspharmacist.com)
- Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare and first described inherited disorder of desmosomes. (bvsalud.org)
- We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. (bvsalud.org)
- : 625 ), is a condition occurring in babies that is characterized by multiple, symmetric, circular skin creases, or bands, on the forearms, lower legs, and often the neck that are present at birth. (mdwiki.org)
- Cowden syndrome is a very rare genetic disease classically manifesting as the appearance of multiple hamartomas - a benign (but still problematic) kind of tumor - both on the skin and within internal organs. (contourderm.com)
Noonan1
- Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al. (nih.gov)
