• organs
  • This growth can cause compression of local tissues or organs, which can cause many effects such as blockage of ducts, reduced blood flow ( ischaemia ), tissue death ( necrosis ) and nerve pain or damage. (wow.com)
  • Organs and tissues affected by the disease grow out of proportion to the rest of the body. (healthtap.com)
  • Cowden syndrome is an autosomal dominant genetic disorder characterised by multiple benign hamartomas (trichilemmomas and mucocutaneous papillomatous papules) as well as a predisposition for cancers of multiple organs including the breast and thyroid. (wikipedia.org)
  • Deep nodular neurofibromas: Involving tissues and organs underneath the dermis, but otherwise resembling cutaneous and subcutaneous neurofibromas. (wikipedia.org)
  • Internal plexiform neurofibromas are very difficult to remove completely because they extend through multiple layers of tissue and the attempt would damage healthy tissue or organs. (wikipedia.org)
  • Klebsiella
  • Other gram negative bacteria, including Klebsiella and Proteus are also commonly isolated. (wikipedia.org)
  • It is more active against many of the Enterobacteriaceae including Enterobacter, E. coli, Klebsiella, Salmonella and indole-positive Proteus species. (wikipedia.org)
  • Many or all strains of the following genera are resistant to nitrofurantoin: Enterobacter Klebsiella Proteus Pseudomonas Antibiotic susceptibility testing should always be performed to further elucidate the resistance profile of the particular strain of bacteria causing infection. (wikipedia.org)
  • tumors
  • At birth or early childhood, affected individuals may have relatively large, benign tumors that consist of bundles of nerves and other tissue (plexiform neurofibromas). (rarediseases.org)
  • Individuals with Proteus syndrome may have a higher risk of developing thrombosis, especially deep vein thrombosis, and benign tumors, for the same reason as causes overgrowth of other tissues. (news-medical.net)
  • Although benign tumors will not metastasize or locally invade tissues, some types may still produce negative health effects. (wow.com)
  • The growth of benign tumors produces a " mass effect " that can compress tissues and may cause nerve damage, reduction of blood to an area of the body ( ischaemia ), tissue death ( necrosis ) and organ damage. (wow.com)
  • Tumors of endocrine tissues may overproduce certain hormones , especially when the cells are well differentiated. (wow.com)
  • These tumors are named for the cell or tissue type from which they originate, followed by the suffix "-oma" (but not -carcinoma, -sarcoma, or -blastoma, which are generally cancers). (wow.com)
  • Hamartomas are a group of benign tumors that have relatively normal cellular differentiation but the architecture of the tissue is disorganised. (wow.com)
  • Benign tumors are very diverse, and may be asymptomatic or may cause specific symptoms depending on their anatomic location and tissue type. (wow.com)
  • There is an association between genital tract tumors and Proteus syndrome, a rare, sporadic, and progressive entity, characterized by a postnatal overgrowth in several tissues caused by a mosaic mutation in the AKT1 gene. (hindawi.com)
  • A total of nine patients have been described with female tract tumors and associated Proteus syndrome, which includes bilateral ovarian cystadenomas and other benign masses. (hindawi.com)
  • CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. (wikipedia.org)
  • Dercums - A rare condition characterized by generalized obesity and painful fatty tumors in the adipose tissue. (wikipedia.org)
  • They grow along with, and at the same rate as, the organ from whose tissue they are made, and, unlike cancerous tumors, only rarely invade or compress surrounding structures significantly. (wikipedia.org)
  • It can also occur due to another condition such as muscles spasms, cerebral palsy, Marfan syndrome, and tumors such as neurofibromatosis. (wikipedia.org)
  • tumor
  • A benign tumor is a mass of cells ( tumor ) that lacks the ability to invade neighboring tissue or metastasize . (wow.com)
  • We describe a 20-month-old asymptomatic infant with Proteus syndrome who developed an endometrioid paraovarian borderline cystic tumor. (hindawi.com)
  • This is the youngest patient so far reported in the literature with this rare syndrome and an adnexal tumor of borderline malignancy. (hindawi.com)
  • genetic
  • The NIH-based research team found that a point mutation a single-letter misspelling in the DNA of the genetic code in the AKT1 gene activates the sporadic tissue growth associated with Proteus syndrome. (bio-medicine.org)
  • This particular genetic mutation in AKT1 is almost always undetectable in simple blood samples, making it necessary for surgical teams to collect and contribute deep tissues, including bone, cartilage, and growth plates, while patients with Proteus syndrome are undergoing necessary surgical procedures as part of their standard care. (bio-medicine.org)
  • Dr. Tosi, as well as the Chief of Orthopaedics and Sports Medicine, Laurel Blakemore, MD, and Kurt D. Newman, MD, Senior Vice President of the Joseph E. Robert, Jr., Center for Surgical Care, contributed tissue samples from Proteus patients treated at Children's National to help fuel the NIH-based genetic research. (bio-medicine.org)
  • In absence of the possibility of genetic tests, the exact cause of Merrick's deformities has long been unclear, so that throughout much of the 20th century it was speculated that Merrick was affected by other neurological syndromes. (wikipedia.org)
  • Androgen insensitivity syndrome (AIS) is the condition in which a genetically male individual (who has one X and one Y chromosome) is resistant to androgens (male hormones) thus though having the genetic makeup of a man has some or all of the physical traits of a woman. (healthician.org)
  • The details of the genetic bases of these syndromes are unfolding. (wikipedia.org)
  • hypertrophy
  • Akt1 is also able to induce protein synthesis pathways, and is therefore a key signaling protein in the cellular pathways that lead to skeletal muscle hypertrophy, and general tissue growth. (wikipedia.org)
  • Patients
  • Given the importance of this research, we stepped up to the plate and, over the last decade, Children's National surgeons have collected more than one third of the study's tissue samples while Proteus syndrome patients underwent necessary procedures here at Children's National and at NIH. (bio-medicine.org)
  • Children's National has a vision that surgery might be less painful and more precise for pediatric patients, especially those who require multiple surgeries and lifelong support, as in the case of Proteus syndrome," said Dr. Newman, who was recently named the incoming president and CEO of Children's National. (bio-medicine.org)
  • Patients with Proteus syndrome can have regular bone configuration and contours despite the bone enlargement. (wikipedia.org)
  • In earlier tests on tissue and cell samples obtained from patients, ARQ 092 reduced phosphorylation of AKT and downstream targets of AKT in as little as two hours. (wikipedia.org)
  • The Phase 0 trial opened in November 2015 and recruited patients in a study titled "Dose Finding Trial of ARQ 092 in Children and Adults With Proteus Syndrome" This trial is based on in vitro data showing inhibition of AKT1 in cell lines from patients with Proteus syndrome. (wikipedia.org)
  • manifests
  • Mouse model with complete deletion of Akt1 manifests growth retardation and increased spontaneous apoptosis in tissues such as testes and thymus. (wikipedia.org)
  • AKT1
  • The Proteus syndrome research team in the National Human Genome Research Institute at the United States National Institutes of Health have initiated a Phase 0 dose finding trial with the AKT1 inhibitor ARQ 092, which is being developed by the Arqule Corporation. (wikipedia.org)
  • malformations
  • A retrospective study in 2009 claimed that several birth defects, such as hypoplastic left heart syndrome, ophthalmic malformations, cleft lip and cleft palate, and atrial septal defect, were more common in neonates exposed to nitrofurantoin during pregnancy. (wikipedia.org)
  • benign
  • Skin tags, vocal chord polyps and hyperplastic polyps of the colon are often referred to as benign but they are actually overgrowths of normal tissue rather than neoplasms. (wow.com)
  • A hamartoma is a mostly benign, focal malformation that resembles a neoplasm in the tissue of its origin. (wikipedia.org)
  • abnormal
  • Abnormal distribution of fat tissue may occur leading to lipoma formation. (news-medical.net)
  • 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)
  • Hamartomas result from an abnormal formation of normal tissue, although the underlying reasons for the abnormality are not fully understood. (wikipedia.org)
  • Causes
  • Arrhythmogenic Right Ventricular Dysplasia is when the muscle tissue in the right ventricle of the heart dies and is replaced with fat and/or fibrous tissue thus disrupting the electrical signals of the heart and causes arrhythmias. (healthician.org)
  • compress
  • 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)
  • CLOVES
  • It is believed that the first description of a case of CLOVES syndrome was written by Hermann Friedberg, a German physician, in 1867. (wikipedia.org)
  • skin
  • Keratinocytic nevi are frequent in this condition, occurring as velvety overgrowths of the skin, being found in at least half the people affected with Proteus syndrome. (news-medical.net)
  • Condition
  • Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. (wikipedia.org)
  • Barth syndrome is the condition characterized by a weakened and an enlarged heart (dilated cardiomyopathy) skeletal myopathy (weakness in muscles used for movement) neutropenia (recurrent infections caused by small numbers of white blood cells) and short stature. (healthician.org)
  • hamartoma
  • Because a hamartoma typically lacks elastic tissue, it may lead to the formation of aneurysms and thus possible hemorrhage. (wikipedia.org)
  • include
  • The children of Proteus, besides Eidothea, include Polygonus and Telegonus, who both challenged Heracles at the behest of Hera and were killed, one of Heracles' many successful encounters with representatives of the pre-Olympian world order. (wikipedia.org)