Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
A genus of gram-negative, facultatively anaerobic, rod-shaped bacteria that occurs in the intestines of humans and a wide variety of animals, as well as in manure, soil, and polluted waters. Its species are pathogenic, causing urinary tract infections and are also considered secondary invaders, causing septic lesions at other sites of the body.
National Human Genome Research Institute (U.S.)
Genome-Wide Association Study
Sick Building Syndrome
A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (ALVEOLITIS, EXTRINSIC ALLERGIC); allergic rhinitis (RHINITIS, ALLERGIC, PERENNIAL); ASTHMA; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992)
Irritable Bowel Syndrome
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
Proteus syndrome and immunodeficiency. (1/31)A 10 year old boy with Proteus syndrome presented with a pericardial effusion of unknown aetiology. Immunological investigation revealed low serum IgG and IgA, accompanied by low levels of specific antibodies to pneumococcal and haemophilus type B polysaccharides. Circulating lymphocyte surface marker profile revealed T and B cell lymphopenia. This is the first report of hypogammaglobulinaemia occurring in the Proteus syndrome. (+info)
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. (2/31)Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia. PTEN is a tumour suppressor and dual-specificity phosphatase which affects apoptosis via its lipid phosphatase activity in the phosphoinositol-3-kinase and AKT pathway as well as inhibiting cell spreading via the focal adhesion kinase pathway. CS and BRR share some features, such as hamartomas and lipomatosis. To determine whether other syndromes characterized by overgrowth and lipomas are part of the PTEN syndrome spectrum, we ascertained six individuals with overgrowth and lipomas but who did not meet the diagnostic criteria for CS or BRR. Five had Proteus syndrome and one, a Proteus-like syndrome. When germline DNA and DNA from at least one involved tissue per case were examined for PTEN mutations, only the Proteus-like patient was found to harbour a germline R335X mutation. Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X. Both mutations have been described in CS and BRR. We postulate that the second hit, R130X, occurred early in embryonic development and may even represent germline mosaicism. Thus, PTEN may be involved in Proteus-like syndrome with its implications for cancer development in the future. (+info)
Genital tract tumors in Proteus syndrome: report of a case of bilateral paraovarian endometrioid cystic tumors of borderline malignancy and review of the literature. (3/31)Proteus syndrome is a rare, sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. Characteristic manifestations include: overgrowth and hypertrophy of limbs and digits, connective tissue nevus, epidermal nevus and hyperostoses. Various benign and malignant tumors and hamartomas may complicate the clinical course of patients with the syndrome. Commonly encountered tumors include hemangiomas, lymphangiomas and lipomas. Tumors of the genital tract occur less often. Bilateral ovarian cystadenomas are regarded as having diagnostic value in Proteus syndrome when occurring within the first two decades of life. We describe a 3-year-old girl with Proteus syndrome who developed bilateral paraovarian villoglandular endometrioid cystadenomatous tumors of borderline malignancy (low malignant potential) of the broad ligament. Desmoplastic tumor implants, presumably noninvasive, were present in biopsies from the pelvic floor, cul-de-sac and omentum. This is the first recognized example of a cystic borderline epithelial tumor of the female genital tract and the first paraovarian tumor reported in a patient with Proteus syndrome. Previously reported tumors and cystic lesions involving the female genital tract and the male genital tract in patients with Proteus syndrome are reviewed. We suspect that specific testicular and paratesticular tumors may prove to have the same diagnostic value in Proteus syndrome as do bilateral cystic ovarian and paraovarian tumors. (+info)
Protean PTEN: form and function. (4/31)Germline mutations distributed across the PTEN tumor-suppressor gene have been found to result in a wide spectrum of phenotypic features. Originally shown to be a major susceptibility gene for both Cowden syndrome (CS), which is characterized by multiple hamartomas and an increased risk of breast, thyroid, and endometrial cancers, and Bannayan-Riley-Ruvalcaba syndrome, which is characterized by lipomatosis, macrocephaly, and speckled penis, the PTEN hamartoma tumor syndrome spectrum has broadened to include Proteus syndrome and Proteus-like syndromes. Exon 5, which encodes the core motif, is a hotspot for mutations likely due to the biology of the protein. PTEN is a major lipid 3-phosphatase, which signals down the PI3 kinase/AKT pro-apoptotic pathway. Furthermore, PTEN is a protein phosphatase, with the ability to dephosphorylate both serine and threonine residues. The protein-phosphatase activity has also been shown to regulate various cell-survival pathways, such as the mitogen-activated kinase (MAPK) pathway. Although it is well established that PTEN's lipid-phosphatase activity, via the PI3K/AKT pathway, mediates growth suppression, there is accumulating evidence that the protein-phosphatase/MAPK pathway is equally important in the mediation of growth arrest and other crucial cellular functions. (+info)
Proteus syndrome: a natural clinical course of Proteus syndrome. (5/31)A 16-year-old Korean male patient presented with macrodactyly, hemihypertrophy of the face and extremities, plantar cerebriform hyperplasia, a subcutaneous mass of the left chest, macrocephaly and verrucous epidermal nevi. These findings are consistent with Proteus Syndrome. The clinical features, etiology, management, natural course and differential diagnosis of this case are discussed. (+info)
A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing. (6/31)Germline mutations in the PTEN/MMAC1/TEP1 tumor suppressor gene cause Cowden syndrome (CS), a hereditary hamartoma-tumor syndrome with an increased risk of breast, thyroid, and endometrial cancers, and seemingly unrelated developmental disorders, such as Bannayan-Riley-Ruvalcaba (BRR) syndrome, Proteus, and Proteus-like syndromes. Data to date suggest that irrespective of the clinical presentation, the identification of a PTEN mutation should trigger medical management which includes cancer surveillance. Clinic-based molecular diagnostic testing for germline PTEN mutations has been available for at least 2 years. This study reports on the finding of a previously unobserved heterozygous alteration (IVS7-15-->53del39) found in an African American individual who had features of CS. Further investigation revealed that 12 of 42 (28.6%) African American controls, but not individuals of Caucasian or Japanese origin, also carried this heterozygous 39-bp deletion in PTEN. Due to its location immediately upstream of the splicing site of exon 8, this polymorphism could be mistaken for a deleterious mutation in the PTEN. (+info)
Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism? (7/31)Studies in drosophila and animal models have shown that the phosphoinositide-3-kinase (PI3-kinase) axis plays a central role in normal development, defining the number and size of cells in tissues. Dysfunction of this pathway leads to growth anomalies and has been established to play a key role in the pathogenesis of Cowden syndrome and tuberous sclerosis. It is probable that dysfunction of this pathway is the basis of other disorders especially those typified by asymmetric overgrowth. (+info)
Unilateral proteus syndrome. (8/31)Proteus syndrome is a complex developmental abnormality. It is characterized by both hypertrophic and hypoplastic changes. Deformities have been occasionally found to be localized in one half of the body in head or digit but presence of all signs in one half of the body in a wide spread manner is not reported in the literature. We report the case for its unusual presentation of unilateral localization of signs. (+info)
Dermatologic Manifestations of Proteus Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations
Proteus syndrome (PS) is a sporadically occurring hamartomatous disorder associated with irregular asymmetric overgrowth of multiple body tissues and cell lineages. Most malformations in patients with Proteus syndrome have a mesodermal origin.
This weeks strange case in medicine is Proteus Syndrome. Proteus Syndrome results in the overgrowth of skin and irregular bone development that is often followed by the growth of tumors over the body. The condition is extremely rare, with only about 120 people living with the condition.. Proteus Syndrome is described as a progressive condition, meaning that when a child is born with the condition it may not be apparent right away. However, as time moves on deformities begin to become fairly obvious. Although not all cases of Proteus Syndrome are diagnosed, as not all irregular growths are severe.. Unfortunately, skin, bone, and tumor growth can begin at any age. Also, the risk of an early death increase dramatically for those diagnosed with Proteus Syndrome. Many individuals suffering from Proteus Syndrome are more likely to develop deep vein thrombosis and pulmonary embolism due to the malformations of the blood vessels. Furthermore, carrying around all the extra weight, caused by the ...
Proteus Syndrome Face » mymodelwatches.com
Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome.
DMOZ - Health: Conditions and Diseases: Genetic Disorders: Proteus Syndrome
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas, lipomas, lymphangiomas, epidermal nevi, macrocephaly, cranial hyperostoses, and long-bone overgrowth. Joseph Merrick, the so-called elephant man, apparently suffered from Proteus syndrome and not neurofibromatosis, a disorder with similar characteristics.
Proteus syndrome is the overgrowth of the skin, bones and other tissues. The tissues and organs the disease affects grow out of proportion to the rest of the body. The overgrowth usually affects the left and right sides of the body differently, meaning that it is asymmetric. This is the forum for discussing anything related to this health condition
Proteus Syndrome - Overgrowth Condition
Proteus syndrome has also been termed elattoproteus syndrome or the elephant man disease. It is a rare genetic condition in which some parts of the body start to grow too much, in a random manner.
RE: [Histonet] Chimerism
I believe this is known as Proteus syndrome. The following is from a paper I am writing on the cytological findings of a hydrocele fluid from a boy with Proteus syndrome (I must pull my finger out and submit it). As an aside, it is believed that the elephant man suffered from this disorder. Proteus syndrome is a rare disorder and it estimated that there are only several hundred patients affected. It is postulated that the syndrome is caused by a post-zygotic mosaic alteration in a gene that is lethal in its non-mosaic state (4). Apart from connective tissue and epidermal nevi, disproportionate overgrowth of some bones and other malformations, bilateral ovarian cystadenomas are regarded as having diagnostic value in Proteus syndrome when occurring in the first two decades of life. Papillary lesions, resembling common epithelial ovarian tumours are rare in the testis with only a handful being described in pre-pubertal males (4). It has been suggested that these papillary lesions, so called ...
Is there any treatments to heal proteus syndrome - Doctors answer your questions
HealthTap: Doctor answers on Symptoms, Diagnosis, Treatment, and More: Dr. Sinha on is there any treatments to heal proteus syndrome: Compartment syndrome of the quads and calfs are the most common muscles affected. Releasing the pressure quickly saves muscle death and can prevent kidney damage. The fascia surrounding the swollenmuscle is not elastic and needs to be cut as soon as possible. Pain and numbness are a bad sign but there are rare instances where very close observation may avoid surgery.
Connective tissue nevus (collagenoma, elastoma, nevus mucinosis) - Psychiatry Advisor
Carmen Boente , M, Primc , NB, Asial , RA, Winik , BC. Familial cutaneous collagenoma: a clinicopathologic study of two new cases. Pediatr Dermatol. vol. 21. 2004. pp. 33-8. (Case report of a family with familial cutaneous collagenoma and review of the literature of connective tissue nevi.). Shah , KR, Wells , MJ, Stetson , CL. CD34+ connective tissue nevi: Are they unusual?. J Am Acad Dermatol . vol. 62. 2010. pp. 719-20. (Case report followed by a retrospective analysis of connective tissue nevi of the collagen-type as related to CD34 positivity.). Shah , KN, Anderson , E, Junkins-Hopkins , J, James , WD. Medallion-like dermal dendrocyte hamartoma. Pediatr Dermatol . vol. 24. 2007. pp. 632-6. (Case report and review of medallion-like dermal dendrocyte hamartoma.). Biesecker , L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet . vol. 14. 2006. pp. 1151-7. (Review of Proteus syndrome focusing on diagnosis and management.). Ryder , HF, Antaya , RJ. Nevus ...
DSpace at KOASAS: Researcher Profile
UCLA Department of Human Genetics - Dr. Julian Martinez
Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term hemihyperplasia has replaced the term hemihypertrophy to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor.. Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia.. Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome, neurofibromatosis, Proteus syndrome, and ...
Nineteenth-Century Disability: Cultures & Contexts | Joseph Carey Merrick, The Elephant Man Autobiographical pamphlet
The story of Joseph Carey Merrick began in 1862, when he was born to Mary Jane and Joseph Merrick of Leicester, but the story of the Elephant Man did not start until several years later. It was when he was a toddler that tumours first appeared on Merricks body. They continued to grow and multiply throughout his short life, the result of what is now generally understood to be Proteus Syndrome. Without modern surgical treatment, the condition eventually became so severe that it made a normal life impossible. As the autobiographical pamphlet above states, Merrick found a means of supporting himself by joining travelling freak shows, displaying his deformity to the public under the stage name of The Elephant Man.. While touring, Merrick composed - albeit possibly with the help of an external writer - the above statement as part of a pamphlet to be distributed to crowds at each exhibition. He later attained fame of a different sort through his relationship with Dr. Frederick Treves, whose reports ...
Click here for Proteus pictures! You can also find pictures of proteus syndrome, proteus mirabilis, proteus bacteria, uss proteus.
HPANWO: Hospital Porters in the Media
The one departure from the two main stereotypes that Ive come across is in the 1980 David Lynch film The Elephant Man. This is an adaptation of the true-life story of Joseph Merrick, a man who lived in Victorian London who was grossly disfigured by Proteus Syndrome. The original 1942 book written about him by Ashley Montagu is subtitled: A Study in Human Dignity, which is ironic considering how the film dealt with the subject of Hospital Porters. The film considerably deviates from historical facts to add energy to the plot. One of those deviations has Merrick kidnapped, from the hospital where he is being treated, by an unscrupulous freak-show owner and the cruel man who helps to organize the abduction is one of the hospitals porters, played by Michael Elphick. So the score so far for Hospital Porter portrayals is: Conformist Stereotype 1- Evil Greedy Bastard 1! Will things get any better ...
Proteus Syndrome is a rare congenital disease, which is characterized by skin overgrowth and atypical bone growth. The most affected bones are limbs, skull.
MEDLINE - Resultado p gina 1
Noonan Syndrome with Multiple Lentigines (NSML, formerly LEOPARD syndrome) is an autosomal dominant RASopathy disorder manifesting in congenital heart disease. Most cases of NSML are caused by catalytically inactivating mutations in the protein tyrosine phosphatase (PTP), non-receptor type 11 (PTPN11), encoding the SH2 domain-containing PTP-2 (SHP2) protein. We previously generated knock-in mice harboring the PTPN11 mutation Y279C, one of the most common NSML alleles; these now-termed SHP2Y279C/+ mice recapitulate the human disorder and develop hypertrophic cardiomyopathy (HCM) by 12 weeks of age. Functionally, heart and/or cardiomyocyte lysates from SHP2Y279C/+ mice exhibit increased basal and agonist-induced AKT and mTOR activities. Here, we sought to determine whether we could reverse the hypertrophy in SHP2Y279C/+ mice using ARQ 092, an oral and selective allosteric AKT inhibitor currently in clinical trials for patients with PI3K/AKT-driven tumors or Proteus syndrome. We obtained ...
AKT1 Polyclonal Antibody | GoldBio
The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011] Product Name ...
Enterococcus / Elephant Man Behind The Sun - Split (Cassette) at Discogs
Find a Enterococcus / Elephant Man Behind The Sun - Split first pressing or reissue. Complete your Enterococcus / Elephant Man Behind The Sun collection. Shop Vinyl and CDs.
Geenie Dance Lyrics - Elephant Man
Lyrics to Geenie Dance by Elephant Man: Whos the bitch now?! / Winnin contest gal yuh caan lose / Kick off a yuh shoes nuh mon, hey!
British Actor John Hurt, Star of The Elephant Man, Dies at 77 - NBC Chicago
The versatile actor Sir John Hurt, who could move audiences to tears in The Elephant Man, terrify them in Alien, and spoof that very same scene in Spaceballs, has died. He was 77. Hurt, who battled...
Top 10 Interesting Facts About The Elephant Man - Listverse
Joseph Merrick, also known as The Elephant Man, is widely known as a medical oddity. His perplexing ailment led him to a life in the limelight, which was n
Merrick, The Elephant Man - TheaterMania.com
Saul Jaffes solo show about the so-called Elephant Man is well performed but ultimately a little stale. - Dec 1, 2009 by Patrick Lee in Reviews.
Joseph Carey Merrick (5 August 1862 - 11 April 1890; often incorrectly called John Merrick) was an English man with very severe deformities who was first exhib
Catastrophic Elephant Man Drug Trial Victims Injected Recklessly
Experts allege that victims of the terrible Elephant Man clinical trial were given the test drug injections at a reckless rate.
An Elephant Man | L.A. Weekly
Chris DeRose is an actor he did an early Aaron Spelling series called San Pedro Beach Bums, some CHiPs episodes, stuff like that but on...
David Lynchs 1980 film The Elephant Man is one of the most revered and popular classics of the 80s. Many of its elements, like the famous I am not an animal! speech are still known to people who have never even heard of The Elephant Man, let alone actually sat down and watched it. So I guess its inevitable then that a Hollywood studio is going to remake it. Or - to put it more accurately, Silver Nitrate Entertainment has purchased the rights to a book on the life of severely disfigured Joseph Merrick, the subject of the original movie. But producer Ash Shah is said to be basically approaching this as a remake anyway, something he doesnt deny in this recent statement ...
Background Materials for Proteus Syndrome Announcement - National Human Genome Research Institute (NHGRI)
Background materials are available, below, for the announcement of the discovery of the mutation that causes Proteus Syndrome. The findings are published in the July 27, 2011 early online edition of The New England Journal of Medicine.. ...
Keppler-Noreuil Scientific Summary - National Human Genome Research Institute (NHGRI)
Dr. Keppler-Noreuils clinical and research interests include natural history and clinical characterization, genetic studies, and therapeutic interventions of somatic overgrowth disorders, including Proteus syndrome and PIK3CA-Related Overgrowth Spectrum (PROS), as well as other malformations and genetic disorders, including OEIS complex/cloacal exstrophy and Bardet-Biedl syndrome. Her studies of Proteus syndrome and PROS have included: descriptive analyses of craniofacial abnormalities, cardiac, risk for thromboembolism, prevalence and complications of vascular malformations and tumors.. Her work has included further delineation of the clinical findings and complications in PROS and Proteus syndrome, and the role of somatic mutations in the PI3K/AKT/mTOR pathway in these disorders and in tumorigenesis. As principal investigator and co-lead of the PIK3CA-Related Overgrowth Multinational Investigation of Sirolimus Efficacy (PROMISE), she has initiated the pilot treatment trial in collaboration ...
Medical College Researchers Help Identify Gene Responsible for Elephant Man Disease - Healthcanal.com
The discovery, which has implications for potential drug therapies and even cancer, appears in the July 27, 2011, early online edition of the New England Journal of Medicine.. David Bick, MD, professor of pediatrics at the Medical College and medical director of genetics at Childrens Hospital of Wisconsin, is one of the authors of the study, which was led by researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH).. Proteus syndrome gained wide public attention in 1980, through the movie The Elephant Man, about a 19th century Londoner whom experts believe may have suffered from the disease.. Researchers discovered a single-letter misspelling in the DNA of a gene called AKT1 that activates the sporadic tissue growth seen in patients with Proteus syndrome. There are fewer than 500 people with the disease in the developed world, where it can be tracked.. Affected patients appear normal at birth, but symptoms occur in the first two ...
Overgrowth syndrome - Wikipedia
Overgrowth syndromes in children constitute a group of rare disorders that are typical of tissue hypertrophy. Individual overgrowth syndromes have been shown to overlap with regard to clinical and radiologic features. The details of the genetic bases of these syndromes are unfolding. Any of the three embryonic tissue layers may be involved.The syndromes may manifest in localized or generalized tissue overgrowth. Latitudinal and longitudinal growth may be affected. Nevertheless, the musculoskeletal features are central to the diagnosis of some syndromes such as Proteus syndrome. The time of presentation of children with overgrowth syndromes is an important contributor to the differential diagnosis. Children with some overgrowth syndromes such as Klippel-Trenaunay-Weber syndrome can be readily detectable at birth. In contrast other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period characteristically between the 2nd and 3rd year of life. In general, children with ...
CLOVES syndrome - Wikipedia
CLOVES syndrome is an extremely rare overgrowth syndrome as only 50 people have it in the world, with complex vascular anomalies. CLOVES syndrome affects people with various symptoms, ranging from mild fatty soft-tissue tumors to vascular malformations encompassing the spine or internal organs. CLOVES syndrome is closely linked to other overgrowth disorders like proteus syndrome, Klippel-Trénaunay syndrome, Sturge-Weber syndrome, and hemihypertrophy, to name a few. It can also cause fat to move to the back, and many cases undescended testicles. CLOVES is an acronym for: C is for congenital. L is for lipomatous, which means pertaining to or resembling a benign tumor made up of mature fat cells. Most CLOVES patients present with a soft fatty mass at birth, often visible on one or both sides of the back, legs and/or abdomen. O is for overgrowth, because there is an abnormal increase in the size of the body or a body part that is often noted at birth. Patients with CLOVES may have affected areas ...
Neurofibromatosis but manageable Elephant Man may not have had it - tribunedigital-baltimoresun
The irony of neurofibromatosis, or elephant mans disease, as it is widely known, is that the Elephant Man may not have even had it.John Merrick, who lived in London in the late 1800s, was called
Gigantism partial -- nevi -- hemihypertrophy -- macrocephaly Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Gigantism partial - nevi - hemihypertrophy - macrocephaly information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, videos, forums, prevention, and prognosis.
Ottavino Replaces Anglim Opposite Leonard in Phillys White People | Playbill
Citing a medical condition with his throat, Philip Anglim has left the production of J.T. Rogers' White People at Philadelphia Theatre Company in Pennsylvania. According to a PTC spokesperson, Anglim (a Tony nominee for The Elephant Man) has been replaced by John Ottavino.
Hemihyperplasia | Radiology Reference Article | Radiopaedia.org
Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation. Terminology Hemihyperplasia is more scientifically correct than hemihypertrophy as the...
Wul Dem Again Riddim Mix - Dancehall
Hot new dancehall riddim Wul Dem Again. Listen to the full mix featuring Vybz Kartel, Mavado, I-Octane, Demarco, Elephant Man, Mr. Vegas, Chilando
Global Skin Atlas - Diagnosis Detail
History: An asymptomatic solitary brown-black nodule with greasy cerebriform surface stuck on the side of the neck of many years duration. ...
DARPA: Lets Get Rid of Antibiotics, Since Theyll Be Obsolete Anyway - 80beats : 80beats
NewEnglandBob. About 2 years ago I came down with something similar. It started as an ear infection, 2 days later the whole right side of my face had swollen so much that I looked like the elephant man. By day 3 I had puss just coming from the side of my cheek, but no sores. It was some of the worse pain I have ever had and it put me in the hospital for over a week. Anyway docs didnt have a clue what it was, thats even after sending specimens off to labs. They said I was very close to death and none of the antibiotics appeared to be doing much good. around day 5 I started getting better, the doctors said that it appeared as if my own immune system did most of the work not the antibiotics. Even though they couldnt get a conclusive results from the labs, they believed it was an ear infection the moved into the sub-dermal tissue and behaved kinda like a staff infection. They put me on a Z pack (zithromax?) first for the ear infection and it did absolutely nothing. I guess my point is, I think ...
Encyclopaedia Metallum: The Metal Archives • View topic - mini-review game: non-metal edition (read OP before posting)
Hmmm. Maybe I shouldnt review stuff that I have so little context from which to draw insight but what the fuck, Ill go with it. Its quite repetitive but not entirely unpleasant. The song starts with some sampled dialogue from what I would guess is a horror movie of some sort and soon thereafter starts with the incessant beat that we hear throughout almost the entire song. Much of the song is just that repetitive beat with some phased electronic effects over top of it. Around the 1:30 mark there is a hint that the song might start to get more rhythmically interesting but instead their is an abrupt break from the beat to give us . . . well, Im not sure if the voice reminds me more of the Elephant Man or the deformed dude from the Goonies but hes spouting off something nonsensical that adds nothing to the song for me. Luckily he is brief. Back to phased electronic sounds, this time with a little more structure building back to that same beat. I almost enjoy it but I think that may just be ...
F This Movie!: Review: Jupiter Ascending
I saw this just this afternoon actually, and you pretty much nailed it Adam. It really is just a bunch of CGI nonsense, and for the life of me i cant figure out what Eddie Redmayne was doing. I mean did he think that talking like he was just getting over a cold was menacing? And Kunis was definitely in a totally different movie. But the tone of this movie was mucked up from the start. Tatum is playing in a very serious movie, Kunis is playing in a weird rom-com and Redmayne is in a silly 80s movie. Its really all over the place. But the tonal issues stems from every part of the film making, in particular because nothing ever seems to be that dangerous because it is exclusively CGI. Still, I didnt really hate it, btu I really didnt like it. I think the character that most sums up my feelings about this movie is the crazy Elephant man ship driver guy. The second I saw that guy I just burst out laughing, and if Im not mistaken, we first see him in a very intense, pivotal moment of the movie, ...
Telecharger Proteus Design Suite Version 8.2 Integrale Vf - Torrent
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May 2012 - Itasca Films | Itasca Films
Producer/Director and CEO Malcolm Walker started his career in the British film industry over 35 years ago. Throughout his long and varied career Malcolm has worked on some of the biggest movies filmed in Britain, including The Eagle has Landed; The Shining; Star Wars; Alien; The Elephant Man and many others. Malcolm was one of the UKs top Location Managers for many years before moving onto directing. As a director he directed drama for both the BBC and ITV and pop videos and commercials. After many years directing the next natural step was producing. Having now produced both mainstream pop videos and commercials, and having line produced a number of feature films, Malcolm has just finished producing his first feature film Death and is ...
Proteus Platform - Overview
Leveraging the Proteus Product Suite, Proteus partners with businesses to help digitally transform b2b customer experiences via robust content management, digital engagement, and web product innovation.
Various: Frantic Residents 07: Mixed By Proteus & Cally Gage (unmixed tracks) at Juno Download
Download Frantic Residents 07: Mixed By Proteus & Cally Gage (unmixed tracks) by Various at Juno Download. Listen to this and millions more tracks online. Frantic Residents 07: Mixed By Proteus & Cally Gage (unmixed tracks)
Proteus (mesiac) - Wikipédia
Proteus je prirodzený satelit planéty Neptún a súčasne najväčší z novoobjavených Neptúnových satelitov, teda satelitov objavených po Tritone a Nereide. S jeho priemerom 428 km je to druhý najväčší mesiac Neptúna. Proteus je jedným z najtemnejších objektov v slnečnej sústave. Naspäť do priestoru odráža iba 6% dopadajúceho slnečného svetla. Jeho povrch je pokrytý veľkým množstvom kráterov. ...
About Proteus 6 | All About Circuits
Hi ! I want to know How I could use Proteus to realize a project. My anxious is about the software: How can I put the code in the µC8051 to be simulated...
Proteus 7.4 key file
proteus 7.4 key file - Php file, and if he doesn t do it, we will alias it for him thanks very much for this, great tutorial and thanks spamoom for offering up a alternative. A Sentry egy felhaszn l autentik ci t s jogoults g kezel st megval s t univerz lis De mi a probl ma amivel tal lkoztam ( s m s is) a Sentry 2-ben Short Videos with Quick Answers Video Responses to laravel 5 sentry 2.
Proteus Locking System with Keypad and Pincode | Sir Boateng Online
This project is about building a Proteus Pincode secure door locking using Arduino Uno, I2C LCD and 4X3 Matrix Keypad. The user enters code to get access.
How to set up a Company | Proteus Help Center
If you dont add your company in the companys section then you wont be able to proceed in Proteus and create Opportunities, Proposals or Projects.. The details entered here are automatically pulled into document templates such as proposals and invoices. The information can be edited at any time, and a notification will be sent to company rep to alert of the change. This is also a database build of all the companies and contacts you deal with so they are all stored in one place.. ...
Gentaur Molecular :bio-gentaur \ PROTEUS MIRABILIS Z050, titered \ GEN0801544
Gentaur molecular products has all kinds of products like :search , bio-gentaur \ PROTEUS MIRABILIS Z050, titered \ GEN0801544 for more molecular products just contact us
Assets - Issue Work Order - Proteus MMX Support
Note: Some pages in our support center contain file attachments. When present, these appear to the bottom right of the answer area.. ...
Proteus Professional 8.9 SP0 Build 27865
Pls mail to: yamile#list.ru change # into @ NGA.GMsys.pro.4.6 NI.488.2.V2.3 NI.AWR.Design.Environment.with.Analyst.14.0.9138 NI.Circuit.Design.Suite.Pro.14.1 NI.Labview.2020 NI.Labview.NXG.2020.v1.0 N
Since 2003, Hurt was a patron of the Proteus Syndrome Foundation, both in the United Kingdom and in the US. Proteus syndrome is ... "Proteus Syndrome Foundation UK". proteus-syndrome.org.uk. Archived from the original on 31 December 2014. Retrieved 31 December ... Tibbles JA, Cohen MM (1986). "The Proteus Syndrome: the Elephant Man diagnosed". Br Med J (Clin Res Ed). 293 (6548): 683-85. ...
Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome. Although they all have distinct ... Cohen MM (August 2005). "Proteus syndrome: an update". Am J Med Genet C Semin Med Genet. 137C (1): 38-52. doi:10.1002/ajmg.c. ... Proteus syndrome is characterised by nevi, asymmetric overgrowth of various body parts, adipose tissue dysregulation, ... PTEN hamartoma syndrome consists of four distinct hamartomatous disorders characterised by genetic mutations in the PTEN gene; ...
Goldenhar syndrome, Hurler syndrome, Proteus syndrome and Morquio syndrome. Acquired condylar hypoplasia happens when a person ... DeLone, D. R.; Brown, W. D.; Gentry, L. R. (November 1999). "Proteus syndrome: craniofacial and cerebral MRI". Neuroradiology. ... "The Correction of Auricular and Mandibular Deformities in Auriculo-Condylar Syndrome". Journal of Craniofacial Surgery. 16 (3 ...
Michael Cohen (doctor)
CS1 maint: discouraged parameter (link) "Proteus syndrome". www.kumc.edu. 13 February 2012. Archived from the original on 13 ... He was the first doctor to diagnose Proteus syndrome, in 1979. Cohen was born in Boston, Massachusetts and studied at the ... an oral pathologist and geneticist who described a large number of syndromes, including one they delineated together known as ... Gorlin-Cohen syndrome. Cohen held a bachelor's degree and doctorate in anthropology; he received a Doctor of Dental Surgery and ...
Cohen MM (2014). "Proteus syndrome review: molecular, clinical, and pathologic features". Clin. Genet. 85 (2): 111-9. doi: ... A single-nucleotide polymorphism in this gene causes Proteus syndrome. AKT (now also called AKT1) was originally identified as ... In 2011, a mutation in AKT1 was strongly associated with Proteus syndrome, the disease that probably affected the Elephant Man ... "A mosaic activating mutation in AKT1 associated with the Proteus syndrome". N. Engl. J. Med. 365 (7): 611-9. doi:10.1056/ ...
Multisystem developmental disorder
Proteus syndrome, a congenital disorder causing disproportionate growth of skin, bone, and other tissues. Asphyxiating thoracic ... 2011). "Assessment and management of the orthopedic and other complications of Proteus syndrome". Journal of Children's ... 2012). "Imaging manifestations in Proteus syndrome: An unusual multisystemdevelopmental disorder". British Journal of Radiology ... Rubinstein-Taybi syndrome, a mental retardation syndrome characterized by broad thumbs, facial abnormalities, and big toes ...
In fact, Proteus syndrome affects tissue other than nerves, and it is a sporadic disorder rather than a genetically transmitted ... In 1986 it was conjectured that he had Proteus syndrome. DNA tests on his hair and bones in a 2003 study were inconclusive. ... Cohen and Tibbles said Merrick showed the following signs of Proteus syndrome: "macrocephaly; hyperostosis of the large skull; ... Pletcher, Beth A. (18 March 2010), "Proteus Syndrome", eMedicine, Medscape, retrieved 2 June 2010 "List of Current Fellows". ...
Protein kinase B
A mosaic-activating mutation (c. 49G→A, p.Glu17Lys) in AKT1 is associated with the Proteus Syndrome, which causes overgrowth of ... August 2011). "A mosaic activating mutation in AKT1 associated with the Proteus syndrome". The New England Journal of Medicine ...
These disorders include Bannayan-Riley-Ruvalcaba syndrome and Proteus-like syndrome. Together, the disorders caused by PTEN ... GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS) PTEN+Protein at the US National Library of Medicine ... Mutations in the PTEN gene cause several other disorders that, like Cowden syndrome, are characterized by the development of ... Pilarski R, Eng C (May 2004). "Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra ...
The most famous person with Proteus syndrome may be Joseph Merrick, the "Elephant Man". There is no known cure. When she was ... Some reports still describe her condition as a rare form of Proteus syndrome, but Sellars herself has disputed the diagnosis. ... In 2006, some doctors diagnosed Sellars as having Proteus syndrome, a very rare condition thought to affect only 120 people ... Sellars herself notes that she does not have Proteus syndrome.  Ashley Neglia (16 November 2009). "Mandy Sellars: What If ...
Only in 1986 was it conjectured that he had Proteus syndrome, a very rare congenital disorder also known as Wiedemann syndrome ... Tibbles, J. A. R.; Cohen, M. M. (1986), "The Proteus Syndrome: The Elephant Man Diagnosed", British Medical Journal, 293 (6548 ... "Proteus Syndrome", eMedicine, Medscape, retrieved 2 June 2010. *^ "List of Current Fellows". Society of Biology. Archived from ... Proteus syndrome affects tissue other than nerves, and it is a sporadic disorder rather than a genetically transmitted disease. ...
List of eponyms (L-Z)
Proteus syndrome, Proteus effect. Karl Prusik, Austrian mountaineer - Prusikclimbing technique of going up or down a rope using ... Baron Munchausen, German baron - Munchausen syndrome, Munchausen syndrome by proxy Ian Murdock, American software engineer, and ... Proteus, Greek mythological character - the adjective "protean" (versatile, mutable, capable of assuming many forms), ... Douglas Reye, Australian physician - Reye syndrome. R. J. Reynolds, American businessman - R. J. Reynolds Tobacco Company. Rhea ...
Diffuse capillary malformation with overgrowth
CLOVES syndrome and Proteus Syndrome. Careful evaluation must be made to rule out these vascular-complex syndromes from the ... and Proteus Syndrome. DCMO is a unique entity, and thus must be differentiated from these syndromes. An interprofessional ... Proteus syndrome review: molecular, clinical, and pathologic features. Clin Genet. Feb 2014; 85: 111-9. Bloom J, Upton J, 3rd. ... DCMO is a unique entity from previously described vascular syndromes including: Klippel-Trenaunay Syndrome, macrocephaly- ...
He also wrote The Elephant Man, a book about Joseph Merrick, who suffered from Proteus Syndrome, and Until You are Dead..., ...
Serial killer history enthusiast Noah tells the story of how Brandon James, was a teenager with Proteus syndrome who died ...
Proteus syndrome, which by one theory accounts for the deformities of the Elephant Man There are a number of acquired causes of ... Congenital causes include: Klippel Trenaunay Weber syndrome Maffucci syndrome macrodystrophia lipomatosa neurofibromatosis, ...
Malignant peripheral nerve sheath tumor Neurofibromatosis Neurofibromin Genetic disorder Watson syndrome Proteus syndrome ...
... a disease characterized by weakness Proteus-like syndrome, similar to Proteus syndrome Polish Lowland Sheepdog Palletized load ... a programming language Papillon-Lefèvre syndrome, a disease affecting the teeth and skin Primary lateral sclerosis, ...
Proteus syndrome, a genetic disorder best known as the condition possibly suffered by Joseph Merrick, the so-called "Elephant ...
Facial infiltrating lipomatosis
"Study of ARQ 092 in Subjects With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC)" at ClinicalTrials.gov ...
... doctor of dental medicine who first identified Proteus syndrome Michael Cohen (pharmacist), president of the Institute for Safe ...
List of MeSH codes (C16)
Prader-Willi syndrome MeSH C16.131.077.740 - proteus syndrome MeSH C16.131.077.745 - prune belly syndrome MeSH C16.131.077.790 ... MeSH C16.131.077.065 - Alagille syndrome MeSH C16.131.077.095 - Angelman syndrome MeSH C16.131.077.112 - Bardet-Biedl syndrome ... polydactyly syndrome MeSH C16.131.621.585.620 - proteus syndrome MeSH C16.131.621.585.800 - syndactyly MeSH C16.131.621.585. ... branchio-oto-renal syndrome MeSH C16.131.260.190 - cri du chat syndrome MeSH C16.131.260.210 - De Lange syndrome MeSH C16.131. ...
Index of genetics articles
Proplastid Propositus Prostate cancer Protease Protein Protein product Protein splicing Proteome Proteomics Proteus syndrome ... Junk DNA Kappa particle Kartagener's syndrome Karyokinesis Karyotype Kilobase Kin selection Kinetochore Klinefelter syndrome ... tumor Wobble Wolfram syndrome X chromosome X hyperactivation X linkage X linked X-and-Y linkage X-inactivation X:A ratio ... Ala Alagille syndrome Albino Alcoholism Alkylating agent Allele Allele frequency Alleles Allopolyploid Allosteric protein ...
... which also includes Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome. Hamartomas, while generally ... Many of these conditions are classified as overgrowth syndromes or cancer syndromes. Hamartomas occur in many different parts ... Cowden syndrome is considered a PTEN hamartoma tumor syndrome (PHTS), ... Cowden syndrome is a serious genetic disorder characterized by multiple hamartomas. Usually skin hamartomas exist, and commonly ...
"Proteus Supplements". Proteus Supplements. Retrieved 2017-06-14. "Proteus syndrome". US National Library of Medicine. July 7, ... Proteus in popular culture USS Proteus HMS Proteus Oresteia, section Proteus "Proteus". Random House Webster's Unabridged ... In medicine, Proteus syndrome refers to a rare genetic condition characterized by symmetric overgrowth of the bones, skin, and ... The protist Amoeba proteus is named for the Greek god, as it has no fixed shape and constantly changes form. Proteus Lake in ...
Neurofibromatosis Proteus syndrome Simpson-Golabi-Behmel syndrome Sotos syndrome Sturge-Weber syndrome Weaver syndrome ... Examples of overgrowth syndromes include: Beckwith-Wiedemann syndrome CLOVES syndrome Fragile X syndrome Klippel-Trénaunay- ... Nevertheless, the musculoskeletal features are central to the diagnosis of some syndromes such as Proteus syndrome. The time of ... In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically ...
Proteus syndrome Beckwith-Wiedemann syndrome Perlman syndrome http://www.exploringautism.org/autism/evaluation.htm "7-foot-tall ... There is no standard course of treatment for Sotos syndrome. Sotos syndrome is not a life-threatening disorder ... It is similar to Weaver syndrome. This syndrome is characterized by overgrowth and advanced bone age. Affected individuals are ... and the other features of Sotos syndrome. About 95 percent of Sotos syndrome cases occur by spontaneous ...
... is closely linked to other overgrowth disorders like proteus syndrome, Klippel-Trénaunay syndrome, Sturge-Weber ... Mutations in other parts of this pathway cause other overgrowth syndromes including Proteus syndrome and hemimegaencephaly. " ... CLOVES syndrome is an extremely rare overgrowth syndrome with complex vascular anomalies. CLOVES syndrome affects people with ... In this initial description the syndrome is named CLOVE syndrome. It is believed that the first description of a case of CLOVES ...
Parkes Weber syndrome Sotos syndrome Hemangiomas. Many sources classify Proteus syndrome to be a type of nevus syndrome. The ... Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome ... However, the diagnosis of Proteus syndrome in this patient has been questioned by others. The Proteus syndrome research team in ... Proteus syndrome, but rather the often-misdiagnosed PIK3CA-related overgrowth spectrum, a syndrome caused by a PIK3CA gene ...
The presence of the sepsis syndrome associated with a urinary tract infection (UTI) should raise the possibility of urinary ... The term Proteus signifies changeability of form, as personified in the Homeric poems in Proteus, "the old man of the sea", who ... Proteus vulgaris is a rod-shaped, nitrate-reducing, indole+ and catalase-positive, hydrogen sulfide-producing, Gram-negative ... One of the three species Hauser identified was Proteus vulgaris, so this organism has a long history in microbiology. Over the ...
Bannayan-Riley-Ruvalcaba syndrome. *Lhermitte-Duclos disease. *Cowden syndrome. *Proteus-like syndrome ... The Coffin-Lowry Syndrome Foundation acts as a clearinghouse for information on Coffin-Lowry syndrome and hosts a forum for ... The syndrome is caused by mutations in the RPS6KA3 gene. This gene is located on the short arm of the X chromosome (Xp22.2 ... "Coffin-Lowry Syndrome Foundation". National Institute of Neurological Disorders and Stroke. Retrieved 29 February 2016.. ...
Urinary tract infection
Klebsiella and Proteus spp., are frequently associated with stone disease. The presence of Gram positive bacteria such as ... Chronic prostatitis in the forms of chronic prostatitis/chronic pelvic pain syndrome and chronic bacterial prostatitis (not ... Escherichia coli is the single most common microorganism, followed by Klebsiella and Proteus spp., to cause urinary tract ...
Pseudomonal pyoderma / Pseudomonas hot-foot syndrome / Hot tub folliculitis / Ecthyma gangrenosum / Green nail syndrome ... Proteus mirabilis/Proteus vulgaris. *Yersinia pestis *Plague/Bubonic plague. *Yersinia enterocolitica *Yersiniosis ... a rare complication associated with Fitz-Hugh-Curtis syndrome; septic arthritis in the fingers, wrists, toes, and ankles; ...
आइसीडी-१० अध्याय ब - विकिपीडिया
B96.4) Proteus (mirabilis)(morganii) as the cause of diseases classified to other chapters ... B22.2) HIV disease resulting in wasting syndrome. *(B22.7) HIV disease resulting in multiple diseases classified elsewhere ...
Campylobacteriosis, Guillain-Barré syndrome. *Helicobacter pylori *Peptic ulcer, MALT lymphoma, Gastric cancer ... Proteus mirabilis/Proteus vulgaris. *Yersinia pestis *Plague/Bubonic plague. *Yersinia enterocolitica *Yersiniosis ...
Shiga toxin causes hemorrhagic colitis and hemolytic-uremic syndrome by damaging endothelial cells in the microvasculature of ... Proteus mirabilis/Proteus vulgaris. *Yersinia pestis *Plague/Bubonic plague. *Yersinia enterocolitica *Yersiniosis ... the occurrence of this syndrome is strongly linked to HLA-B27 genotype, but the immunologic basis of this reaction is not ...
Multiple hamartoma syndrome *Proteus syndrome. *Cowden syndrome. *Bannayan-Riley-Ruvalcaba syndrome. *Lhermitte-Duclos disease ... It is often associated with Cowden syndrome. It was described by Jacques Jean Lhermitte and P. Duclos in 1920. ... Like cowden syndrome, patients with Lhermitte-Duclos disease often have mutations in enzymes involved in the Akt/PKB signaling ... Patients with Lhermitte-Duclos disease and Cowden's syndrome may also have multiple growths on skin. The tumor, though benign, ...
ടൈഫോയ്ഡ് - വിക്കിപീഡിയ
Shigella dysenteriae/sonnei/flexneri/boydii (Shigellosis, Bacillary dysentery) · Proteus mirabilis/Proteus vulgaris · യെഴ്സീനിയ ... എഷെറിക്കീയ കോളി: Enterotoxigenic · Enteroinvasive · Enterohemorrhagic · O157:H7 · O104:H4 (Hemolytic-uremic syndrome) ... Campylobacter jejuni (Campylobacteriosis, Guillain-Barré syndrome) · Helicobacter pylori (Peptic ulcer, MALT lymphoma) · ... M+ Neisseria meningitidis/meningococcus (Meningococcal disease, Waterhouse-Friderichsen syndrome, Meningococcal septicaemia). M ...
Fanconi syndrome may result from ingesting expired tetracyclines.. Caution should be exercised in long-term use when ... such as Pseudomonas aeruginosa and Proteus spp., which display intrinsic resistance. However, acquired (as opposed to inherent ... cases of Stevens-Johnson syndrome, toxic epidermal necrolysis, and erythema multiforme associated with doxycyline use have been ...
TD has been linked to later irritable bowel syndrome and Guillain-Barré syndrome. It has colloquially been known by a ... Proteus mirabilis/Proteus vulgaris. *Yersinia pestis *Plague/Bubonic plague. *Yersinia enterocolitica *Yersiniosis ...
Marfan syndrome, nail-patella syndrome, neurofibromatosis, osteogenesis imperfecta, Prader-Willi syndrome, proteus syndrome, ... Ehlers-Danlos syndrome (hyperflexibility, "floppy baby" syndrome, and other variants of the condition), fragile X syndrome, ... "Fragile X syndrome". Department for Work and Pensions, UK. Archived from the original on 19 March 2012. Retrieved 29 August ... Davids JR, Hagerman RJ, Eilert RE (July 1990). "Orthopaedic aspects of fragile-X syndrome". The Journal of Bone and Joint ...
Overgrowth syndromes. *Beckwith-Wiedemann syndrome. *Proteus syndrome. *Perlman syndrome. *Sotos syndrome. *Weaver syndrome ... Seckel syndrome. 210600. People with Seckel syndrome are noted to have microcephaly. Many also suffer from scoliosis, hip ... Meier-Gorlin syndrome. 224690. Individuals with Meier-Gorlin syndrome often have small ears and no kneecaps. They are also ... Like Russell-Silver syndrome, they usually exceed the height of those with Seckel syndrome and ODPDI and II. It is also known ...
ಜಠರ/ಜಠರೀಯ ಹುಣ್ಣು/ವ್ರಣ - ವಿಕಿಪೀಡಿಯ
Campylobacteriosis, Guillain-Barré syndrome. *Helicobacter pylori *Peptic ulcer, MALT lymphoma, Gastric cancer ... Proteus mirabilis/Proteus vulgaris. *Yersinia pestis *Plague/Bubonic plague. *Yersinia enterocolitica *Yersiniosis ...
Mast, S. O. (1924). "Structure and locomotion in Amoeba proteus". Anat. Rec. 29 (2): 88. doi:10.1002/ar.1090290205.. ... Bangstad syndrome. *Cell cortex. *Cell damage, including damage to cell membrane. *Cell theory ...
... and multiple organ dysfunction syndrome. Acute respiratory distress syndrome and altered mental status may also occur. The ... Proteus mirabilis/Proteus vulgaris. *Yersinia pestis *Plague/Bubonic plague. *Yersinia enterocolitica *Yersiniosis ...
Bannayan-Riley-Ruvalcaba syndrome. *Lhermitte-Duclos disease. *Cowden syndrome. *Proteus-like syndrome ... "Charcot-Marie-Tooth Syndrome. CMT information". Patient.. *^ Carter, Gregory T.; Jensen, Mark P.; Galer, Bradley S.; Kraft, ... Stiff-man and Charcot-Marie-Tooth syndromes". The American Journal of the Medical Sciences. 313 (1): 70-73. doi:10.1097/ ... as well as postherpetic neuralgia and complex regional pain syndrome, among other diseases. ...
These are Escherichia coli, Klebsiella pneumoniae, and Proteus mirabilis. However, Proteus mirabilis is now considered a part ... Campylobacteriosis, Guillain-Barré syndrome. *Helicobacter pylori *Peptic ulcer, MALT lymphoma, Gastric cancer ...
Charles Proteus Steinmetz. See alsoEdit. *Ehlers-Danlos syndrome. *The Hunchback of Notre-Dame *The Hunchback of Notre Dame ( ...
Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome. Although they all have distinct ... Cohen MM (August 2005). "Proteus syndrome: an update". Am J Med Genet C Semin Med Genet. 137C (1): 38-52. doi:10.1002/ajmg.c. ... PTEN hamartoma syndromeEdit. PTEN hamartoma syndrome comprises four distinct hamartomatous disorders characterised by genetic ... Proteus syndrome is characterised by nevi, asymmetric overgrowth of various body parts, adipose tissue dysregulation, ...
Proteus mirabilis, and Pseudomonas aeruginosa), but is less effective against Gram-positive bacteria (such as methicillin- ... Stevens-Johnson syndrome, abnormal heart rhythms (torsades de pointes or QT prolongation), low blood pressure, allergic ...
The bacteria Streptococcus pneumoniae, Escherichia coli, Proteus spp., Pseudomonas aeruginosa, Staphylococcus aureus, ... In 2016 a new consensus was reached to replace screening by systemic inflammatory response syndrome (SIRS) with qSOFA. ... Lungs: acute respiratory distress syndrome (ARDS) (PaO2/FiO2 ratio, 300), different ratio in pediatric acute respiratory ... On the other hand, systemic inflammatory response syndrome (SIRS) occurs in people without the presence of infection, for ...
List of infectious diseases
Middle East respiratory syndrome (MERS) Middle East respiratory syndrome coronavirus Melioidosis (Whitmore's disease) ... Proteus mirabilis/Proteus vulgaris. *Yersinia pestis *Plague/Bubonic plague. *Yersinia enterocolitica *Yersiniosis ... Hemolytic-uremic syndrome (HUS) Escherichia coli O157:H7, O111 and O104:H4 ...
List of parasites of humans
Halzoun syndrome Linguatula serrata nasopharynx physical examination Mid East ingestion of raw or undercooked lymph nodes (e.g ... Proteus mirabilis/Proteus vulgaris. *Yersinia pestis *Plague/Bubonic plague. *Yersinia enterocolitica *Yersiniosis ... Intestines, liver, appendix, pancreas, lungs, Löffler's syndrome stool common in tropical and subtropical regions ... "Oh my aching gut: irritable bowel syndrome, Blastocystis, and asymptomatic infection". Parasit Vectors. 1 (1): 40. doi:10.1186 ...
Kidney stone disease
Proteus mirabilis, Proteus vulgaris, and Morganella morganii are the most common organisms isolated; less common organisms ... For example, those with cystinuria, cystinosis, and Fanconi syndrome may form stones composed of cystine. Cystine stone ... Tends to grow in alkaline urine especially when proteus bacteria are present.. ... "Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis" (PDF). Kidney International. 57 (3): 787-93 ...
Proteus mirabilis, and Streptococcus species. Medical therapy is usually given to people whose general health status does ... Blind loop syndrome. *Small bowel bacterial overgrowth syndrome. *Whipple's. *Short bowel syndrome ...
Bannayan-Riley-Ruvalcaba syndrome. *Lhermitte-Duclos disease. *Cowden syndrome. *Proteus-like syndrome ... Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome. ... OSLAM syndrome. References. *^ Custódio G; et al. (July 2013). "Impact of neonatal screening and surveillance for the ...
Pljučnica - Wikipedija, prosta enciklopedija
Enterobacter sp., Klebsiella pneumoniae, Acinetobacter spp., Escherichia coli, Serratia marcescens, Proteus sp., Acinetobacter ... Marik, PE (May 2011). "Pulmonary aspiration syndromes". Current Opinion in Pulmonary Medicine. 17 (3): 148-54. doi:10.1097/MCP. ...
Proteus syndrome: MedlinePlus Genetics
Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Explore symptoms, ... medlineplus.gov/genetics/condition/proteus-syndrome/ Proteus syndrome. ... syndrome; another is type 2 segmental Cowden syndrome. However, some scientific articles still refer to PTEN-related Proteus ... Proteus syndrome results from a mutation in the AKT1 gene. This genetic change is not inherited from a parent; it arises ...
Proteus syndrome - Wikipedia
Parkes Weber syndrome Sotos syndrome Hemangiomas. Many sources classify Proteus syndrome to be a type of nevus syndrome. The ... Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. Proteus syndrome ... However, the diagnosis of Proteus syndrome in this patient has been questioned by others. The Proteus syndrome research team in ... Proteus syndrome, but rather the often-misdiagnosed PIK3CA-related overgrowth spectrum, a syndrome caused by a PIK3CA gene ...
Proteus Syndrome - Overgrowth Condition
... elattoproteus syndrome or the elephant man disease. It is a rare genetic condition in which some parts of the body start to ... Proteus syndrome has also been termed elattoproteus syndrome or the elephant man disease. It is a rare genetic condition in ... https://ghr.nlm.nih.gov/condition/proteus-syndrome#diagnosis. *https://rarediseases.info.nih.gov/diseases/7475/proteus-syndrome ... The cause of Proteus syndrome is thought to be a somatic mutation which occurs in the post-zygotic stage of embryonic life. ...
Proteus syndrome | Define Proteus syndrome at Dictionary.com
Proteus Syndrome by Rhianna Fitzer on Prezi
www.proteussyndrome.net. syndrome.org/proteus-syndrome. http://www.proteus-syndrome.org/proteus-syndrome/faqs/ ... Transcript of Proteus Syndrome. Do you know of a Disease called Proteus Syndrome?. Why I Chose This Topic. I chose this topic ... What is Proteus Syndrome?. Proteus Syndrome is a rare disorder that causes skin overgrowth and atypical bone development, often ... In people with Proteus syndrome, the pattern of overgrowth varies greatly but can affect almost any part of the body. Bones in ...
Proteus syndrome | Health24
The underlying cause of Proteus syndrome is unclear, but the condition is present from birth (congenital). ... Proteus syndrome is a rare disorder characterized by bone and skin malformations and a variety of other symptoms. The ... Proteus Syndrome Foundation. www.proteus-syndrome.org. Accessed March 23, 2008.. *Satter E. Proteus syndrome: 2 case reports ... Proteus syndrome Proteus syndrome is a rare disorder characterized by bone and skin malformations and a variety of other ...
Parenting children with Proteus syndrome | RTI
The purpose of this study was to investigate the courtesy stigma experiences of parents of children with Proteus syndrome (PS) ... Parenting children with Proteus syndrome. Experiences with, and adaptation to, courtesy stigma ... Turner, J., Biesecker, B., Leib, J., Biesecker, L., & Peters, K. F. (2007). Parenting children with Proteus syndrome: ...
Proteus Syndrome Workup: Laboratory Studies, Imaging Studies, Other Tests
Proteus syndrome is a rare condition that can be loosely categorized as a hamartomatous disorder. It is a complex disorder with ... encoded search term (Proteus Syndrome) and Proteus Syndrome What to Read Next on Medscape ... occurs in patients with Proteus syndrome. To add to the confusion, vascular lesions in Proteus syndrome frequently contain ... Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. Seizure. 2008 Jun. 17(4):378-82 ...
Proteus Syndrome Follow-up: Further Outpatient Care, Further Inpatient Care, Complications
Proteus syndrome is a rare condition that can be loosely categorized as a hamartomatous disorder. It is a complex disorder with ... encoded search term (Proteus Syndrome) and Proteus Syndrome What to Read Next on Medscape ... Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. Seizure. 2008 Jun. 17(4):378-82 ... Proteus Syndrome Follow-up. Updated: Jun 13, 2018 * Author: Megan Barry, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG ...
Endometrioid Paraovarian Borderline Cystic Tumor in an Infant with Proteus Syndrome
... Liliana Vasquez,1 Mariela Tello,1 Ivan ... A total of nine patients have been described with female tract tumors and associated Proteus syndrome, which includes bilateral ... A paraovarian neoplasm is extremely rare in children and could be considered a criterion for Proteus syndrome. Standardized ... There is an association between genital tract tumors and Proteus syndrome, a rare, sporadic, and progressive entity, ...
Penile Reconstruction for a Case of Genital Lymphoedema Secondary to Proteus Syndrome
Background Materials for Proteus Syndrome Announcement - National Human Genome Research Institute (NHGRI)
Proteus Syndrome Telebriefing. *. Proteus Syndrome Telebriefing [MP3 - 8.5 MB] *Transcript for the Proteus Syndrome ... 2011 Release: NIH researchers identify gene variant in Proteus syndrome * Proteus Syndrome Announcement: Background Materials * ... News Release: NIH researchers identify gene variant in Proteus syndrome. *Proteus Syndrome B-Roll Video Footage and Video Sound ... 2011 Release: NIH researchers identify gene variant in Proteus syndrome Proteus Syndrome Announcement: Background Materials ...
Find official proteus syndrome information, facts and advice plus symptom details, diagnosis and available treatments of this ... Proteus Syndrome. Description:. Explains the symptoms and signs along with Proteus syndrome information from the site of the ... Proteus Syndrome. Description:. Medscape.com provides details of the background of Proteus syndrome with images, facts and of ... Proteus Syndrome causes some parts of the body to grow larger than other parts, the cause of Proteus syndrome still remains ...
Proteus Syndrome Treatment Research & Genetic Testing
National Human Genome Research Institute of National Institutes of Health in the Phase 1 Proteus Syndrome Trial With ARQ 092 ... Genetic Testing for Proteus Syndrome Treatment Phase 1 Trial Patient Enrollment - ArQule & ... Proteus Syndrome Phase 1 Trial Patient Enrollment. ArQule receives orphan drug designation for ARQ 092 in Proteus syndrome. ... the Proteus Syndrome Foundation (http://www.proteus-syndrome.org/), the condition was named for Proteus, the Greek god who ...
Fundraising for the Proteus Syndrome Foundation
PSF or Proteus Syndrome Foundation Fundraising - The 2018 Swing for Sunshine will be hosted at the Cheyenne Mountain Resort ... The Proteus Syndrome Foundation, a 501c3 not-for-profit organization, is dedicated improving the lives of Proteus patients by ... We focus on providing family support in the form of education and networking individuals living with Proteus syndrome with ...
... : A medical rarity April 2011 Macrodactyly with skin hypertrophy: a minimal form of the Proteus syndrome June ... Proteus Syndrome. This is another syndrome that presents with lymphedema as part of its phenotype or as a complication of the ... it was name Proteus Syndrome by a German pediatrician, Has Rudolf Wiedmann. He named it for the Greek God Proteus "the ... Proteus syndrome: high-resolution CT and CT pulmonary densitovolumetry findings.. 2009 Irion KL, Hocchegger B, Marchiori E, ...
Proteus like syndrome - RightDiagnosis.com
... and treatment information for Proteus like syndrome (Cohen-Hayden syndrome) with alternative diagnoses, full-text book chapters ... Proteus *Proteus syndrome Proteus like syndrome as a Disease. Proteus like syndrome: Another name for Cohen-Hayden syndrome (or ... Treatments for Cohen-Hayden syndrome Proteus like syndrome: Related Diseases. Proteus like syndrome: Proteus like syndrome is ... Proteus like syndrome. Description of Proteus like syndrome. Proteus like syndrome (medical condition): A very rare syndrome ...
Children's National Surgeons Collaborate with NIH Researchers to Identify Gene Variant in Proteus Syndrome | Children's...
New England Journal of Medicine study suggests linkage between gene variant and the much-documented syndrome of the Elephant ... Childrens National Surgeons Collaborate with NIH Researchers to Identify Gene Variant in Proteus Syndrome: ... "Proteus syndrome can be a complex disease to treat, as it manifests differently in every patient," said Dr. Blakemore. "It is ... "Proteus syndrome is an extremely rare disorder, making tissue sample collection especially challenging," said Laura L. Tosi, MD ...
Smashwords - Elephant Man Disease, (Proteus Syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related...
... disorder featured by overgrowth of different body tissues caused by a mosaic difference in a gene called AKT1 Proteus syndrome ... diagnosis of proteus syndrome is made using medical diagnostic criteria and molecular testing elephant man disease or proteus ... Patients with Proteus syndrome may be at danger for forming blood clots in the legs a disorder known as deep vein thrombosis ( ... Overgrowth linked with Proteus syndrome is not regular, not proportionate. It may involve one side of the body such as only one ...
Proteus-like syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Proteus-like syndrome ... Proteus-like syndrome. describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the ... Approximately 50% of people with Proteus-like syndrome are found to have changes (. mutations. ) in the PTEN gene. . In these ... PubMed is a searchable database of medical literature and lists journal articles that discuss Proteus-like syndrome. Click on ...
Proteus syndrome - CheckOrphan
Proteus syndrome (Wiedemann syndrome), is a rare congenital disorder that causes skin overgrowth and atypical bone development ... Proteus syndrome is highly variable, and is named after the Greek sea-god Proteus, who could change his shape. ... Study of Proteus Syndrome and Related Congenital Disorders * A Multi-Cohort Phase 2 Dose-Escalation Study of ARQ 092 ( ... Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. Tumors of skin ...
Lack of mutation-histopathology correlation in a patient with Proteus syndrome
Proteus syndrome | Definition of Proteus syndrome in US English by Oxford Dictionaries
Proteus Syndrome Conference 2011
Proteus syndrome - Academic Kids
Proteus Syndrome Foundation (US) (http://www.proteus-syndrome.org/) * Proteus Syndrome Foundation (UK) (http://www.proteus- ... Proteus Syndrome is extremely rare. Since Dr. Michael Cohen identified it in 1979, only a few more than 100 cases have been ... Proteus Syndrome (PS) is a congenital disorder that causes skin overgrowth, atypical bone development, and tumour appearance ... Beth Pletcher on Proteus Syndrome (http://www.emedicine.com/ped/topic1912.htm)es:S ndrome de Proteus ...
Proteus syndrome: A case report
... cerebriform hypertrophy of the soles and various skin and bony lesions is reported diagnosed as Proteus syndrome. ... The Proteus syndrome comprises an association of asymmetrical overgrowth of almost any part of the body, verrucous epidermal ... The Proteus syndrome comprises an association of asymmetrical overgrowth of almost any part of the body, verrucous epidermal ... Ramin, E., Shideh, Y., Kamran, B., Taghi, B., Ali Naser, T. Proteus syndrome: A case report. Iranian Journal of Dermatology, ...
Proteus Syndrome: Symptoms, Diagnosis and Treatment - Symptoma
Proteus Syndrome: Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. ... Proteus syndrome is a rare genetic disorder distinguished by an overgrowth of many different tissues in the body in a mosaic ... are hallmarks of Proteus syndrome    . Other notable findings seen in Proteus syndrome are    : ... a characteristic finding in persons with Proteus syndrome.  Pathophysiology Proteus syndrome is a rare, sporadic disease ...
Trey: Living with Proteus Syndrome - Patient Stories
Case of Proteus syndromePeople with Proteus syndromeMutationPTENAKT1Symptoms of Proteus syndromeDiagnosis of Proteus syndromeMutationsVascularManifestationsTumorMalformationsJoseph MerrickGeneticPatientsLymphoedema Secondary to Proteus SyndromeGrowth characteristic of Proteus syndromeMental retardationNevusParkes WeberDiseaseTumorsLesions in Proteus syndromeDisorderCowdenClinicalGeneHamartomaLipomatosisWiedemannAbnormalCharacteristicCharacterized by overgrowthDiagnostic criteriaNeviRecognizableArQule2001TissuesSevereIndividualsAffects both sexesAsymmetricHemihypertrophyBone2017Overgrowth of skinComplications1979OccursSymptomaticPhakomatosis
Case of Proteus syndrome6
- However, it is now widely believed that the patient actually suffered from a severe case of Proteus syndrome. (health24.com)
- A well known unconfirmed case of Proteus syndrome gained attention in 1980 through the movie "The Elephant Man," about a 19th century Londoner, Joseph Merrick, whom experts believe may have suffered from the disease. (childrensnational.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. (childrensnational.org)
- This extremely rare condition would have remained obscure, were it not for the fact that Joseph Merrick - immortalized as the "Elephant Man" for a look imparted by his large facial tumour and the grayish hue of his overgrown skin - was lately diagnosed as having a particularly severe case of Proteus syndrome rather than, or in addition to, the neurofibromatosis (NF) doctors once thought he had. (academickids.com)
- We report a rare case of Proteus syndrome which presented with dysphagia due to unilateral tonsillar hypertrophy . (symptoma.com)
- We herein present a case of Proteus syndrome with extensive hemangiomas. (magiran.com)
People with Proteus syndrome8
- In people with Proteus syndrome, the pattern of overgrowth varies greatly but can affect almost any part of the body. (medlineplus.gov)
- Some people with Proteus syndrome have neurological abnormalities, including intellectual disability, seizures, and vision loss. (medlineplus.gov)
- Pulmonary embolism is a common cause of death in people with Proteus syndrome. (medlineplus.gov)
- As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed. (wikipedia.org)
- People with Proteus syndrome frequently have irregular and disorganized bone structure, including excessive bone growth, hardened connective tissue, and elongation of long bones with abnormal bone thinning. (health24.com)
- Like Merrick, however, many people with Proteus syndrome are of normal or above-average intelligence. (academickids.com)
- in people with Proteus syndrome, the mutation arises randomly in one cell during the early stages of development before birth. (nih.gov)
- Some people with Proteus syndrome have neurological abnormalities, including intellectual disability , seizures , and vision loss, as well as distinctive facial features. (cdc.gov)
- Proteus syndrome results from a mutation in the AKT1 gene. (medlineplus.gov)
- The cause of Proteus syndrome is thought to be a somatic mutation which occurs in the post-zygotic stage of embryonic life. (news-medical.net)
- Several scientists initially reported a PTEN gene mutation in patients with Proteus syndrome. (health24.com)
- A mosaic activating mutation in AKT1 associated with the Proteus syndrome. (medscape.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)
- Background materials are available , below, for the announcement of the discovery of the mutation that causes Proteus Syndrome. (genome.gov)
- In 2011, an NHGRI team led by Dr. Leslie G. Biesecker discovered that the somatic single (point) mutation in the AKT1 oncogene causes Proteus syndrome1. (proteus-syndrome.org)
- It is hoped the drug, if shown to be safe and effective and approved by the FDA to treat Proteus syndrome in the future, could potentially be administered over many years in order to mitigate the abnormal cell signaling initiated by the point mutation. (proteus-syndrome.org)
- We hope Proteus syndrome patients, with the same mutation, will achieve comparable clinical benefit once a therapeutic dose is established. (proteus-syndrome.org)
- Bethesda, Md. , Wed., July 27, 2011 - A team of researchers has identified the genetic mutation that causes Proteus syndrome, a rare disorder in which tissue and bone grows massively out of proportion. (genome.gov)
- Researchers 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 characteristic of Proteus syndrome. (genome.gov)
- Because of the way the mutation occurs during embryonic development, the NHGRI-led team found that the gene variant of Proteus syndrome occurs in only a subset of the body's cells rather than in every cell, a condition called genetic mosaicism. (genome.gov)
- WASHINGTON, DC-Orthopaedic surgeons from Children's National Medical Center are part of a team of researchers that has identified the genetic mutation causing Proteus syndrome, a rare disorder in which tissue and bone grow massively out of proportion. (childrensnational.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. (childrensnational.org)
- At least one mutation in the AKT1 gene has been found to cause Proteus syndrome, a rare condition characterized by overgrowth of the bones, skin, and other tissues. (nih.gov)
-  Proteus syndrome is caused by a change ( mutation ) in the AKT1 gene . (cdc.gov)
- It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state. (elsevier.com)
- RESULTS: Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G?A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. (elsevier.com)
- CONCLUSIONS: The Proteus syndrome is caused by a somatic activating mutation in AKT1, proving the hypothesis of somatic mosaicism and implicating activation of the PI3K-AKT pathway in the characteristic clinical findings of overgrowth and tumor susceptibility in this disorder. (elsevier.com)
- 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)
- In 2011, the cause of Maffucci syndrome was discovered to be a mutation in a gene known as IDH1 (rarely IDH2 ). (rarediseases.org)
- Since the defect occurs after fertilization (called a somatic mutation), Maffucci syndrome is not considered to be hereditary, that is, it cannot be passed along in a family. (rarediseases.org)
- Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg. (nih.gov)
- TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. (nih.gov)
- Sturge-Weber syndrome is due to somatic mutation in the gene GNAQ. (dermnetnz.org)
- In some published case reports, mutations in a gene called PTEN have been associated with Proteus syndrome. (medlineplus.gov)
- However, many researchers now believe that individuals with PTEN gene mutations and asymmetric overgrowth do not meet the strict guidelines for a diagnosis of Proteus syndrome. (medlineplus.gov)
- Instead, these individuals actually have condition that is considered part of a larger group of disorders called PTEN hamartoma tumor syndrome. (medlineplus.gov)
- However, some scientific articles still refer to PTEN -related Proteus syndrome. (medlineplus.gov)
- Approximately 50% of people with Proteus-like syndrome are found to have changes ( mutations ) in the PTEN gene . (nih.gov)
- Up to 85% of reported mutations in association with PTEN-related hamartoma tumor syndromes are detectable by this test. (cincinnatichildrens.org)
- Promoter analysis of PTEN will identify mutations in about 10% of patients with Cowden syndrome. (cincinnatichildrens.org)
- Blumenthal, G.M. and P.A. Dennis (2008) "PTEN Hamartoma Tumor Syndromes. (cincinnatichildrens.org)
- 2015) "Clinical Presentation of PTEN Mutations in Childhood in the Absence of Family History of Cowden Syndrome. (cincinnatichildrens.org)
- Orloff, M.S. and C. Eng (2008) "Genetic and Phenotypic Heterogeneity in the PTEN Hamartoma Tumour Syndrome. (cincinnatichildrens.org)
- This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE. (harvard.edu)
- Brain morphological analysis in PTEN hamartoma tumor syndrome. (harvard.edu)
- PTEN hamartoma of the soft tissue: the initial manifestation of an underlying PTEN hamartoma tumor syndrome in a 4-year-old female. (harvard.edu)
- Proteus syndrome is very rare and is thought to be due to an abnormal PTEN tumour -suppressor gene. (dermnetnz.org)
- Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families. (medlineplus.gov)
- 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)
- AKT1 testing should be offered to patients suspected of having Proteus syndrome. (medscape.com)
- The Proteus Syndrome Foundation, a 501c3 not-for-profit organization, is dedicated improving the lives of Proteus patients by funding AKT1 research. (proteus-syndrome.org)
- It means that those who suffer from proteus syndrome have some cells with a normal copy of AKT1 gene and other cells with the abnormal gene. (medigoo.com)
Symptoms of Proteus syndrome3
- To make an accurate diagnosis, most doctors and researchers now follow a set of strict guidelines that define the signs and symptoms of Proteus syndrome. (medlineplus.gov)
- The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic manifestations. (wikipedia.org)
- In some patients, involved patients may show only a few, mild symptoms of Proteus syndrome, making diagnosis very hard. (smashwords.com)
Diagnosis of Proteus syndrome5
- The musculoskeletal manifestations are cardinal for the diagnosis of Proteus syndrome. (wikipedia.org)
- However, the diagnosis of Proteus syndrome in this patient has been questioned by others. (wikipedia.org)
- Imaging studies are useful in helping to establish the diagnosis of Proteus syndrome and in tracking the progression of the disease. (medscape.com)
- Diagnosis of Proteus syndrome is made using medical diagnostic criteria and molecular testing. (smashwords.com)
- Diagnosis of Proteus syndrome has some difficulty because of the similarity of symptoms with hamartomatous disorders and other tissues abnormalities. (medigoo.com)
- No currently known genetic mutations cause Proteus syndrome. (health24.com)
- Unlike inherited disease-causing mutations, the gene variant that triggers Proteus occurs spontaneously in each affected individual during embryonic development. (genome.gov)
- Miransertib is currently in a Phase 1/2 company-sponsored study for PIK3CA-Related Overgrowth Spectrum (PROS), a Phase 1 study for ultra-rare Proteus syndrome conducted by the National Institutes of Health (NIH/NHGRI), and a Phase 1b study in combination with the hormonal therapy, anastrozole, in patients with advanced endometrial cancer with AKT and PI3K mutations. (businesswire.com)
- Enchondromas from patients with Ollier disease have been found to have mutations in PTH/PTHR receptor I gene located on chromosome 3, but these mutations are not found in Maffucci syndrome. (rarediseases.org)
- Familial adenomatous polyposis (FAP) is a familial cancer syndrome caused by mutations in the APC gene . (wikipedia.org)
- Although the gene locus is noted below, new studies are finding common mutations between some of these syndromes. (pediatriceducation.org)
- Blood vessels (vascular tissue) and fat (adipose tissue) can also grow abnormally in Proteus syndrome. (medlineplus.gov)
- however, unlike sporadic vascular lesions that may regress over time, this seldom, if ever, occurs in patients with Proteus syndrome. (medscape.com)
- To add to the confusion, vascular lesions in Proteus syndrome frequently contain lymphatic elements and are therefore sometimes classified as lymphatic malformations or lymphovenous malformations. (medscape.com)
- [email protected] Abstract Proteus Syndrome is a rare congenital hamartomatous disorder that typically manifests itself in overgrowth, vascular malformation and disregulation of fatty tissue. (lymphedemapeople.com)
- The Proteus syndrome comprises an association of asymmetrical overgrowth of almost any part of the body, verrucous epidermal naevi, vascular malformations and lipoma-like subcutaneous hamartoma. (iranjd.ir)
- This is a rare skeletal disorder characterized by abnormal bony development and enchondromas, in the absence of cutaneous vascular lesions that characterize Maffucci syndrome. (rarediseases.org)
- Preferred DNA test to confirm clinical diagnosis of a genetic-related vascular malformation disorder, such as a capillary malformation, arteriovenous malformation, cerebral cavernous malformation, glomuvenous malformation, hereditary hemorrhagic telangiectasia, multiple cutaneous and mucosal venous malformations, pulmonary arterial hypertension, or hereditary lymphedema syndrome, if no single specific diagnosis is strongly suspected. (arupconsult.com)
- Vascular malformation syndromes are caused by defects of blood vessels, which can affect multiple vessel types (venous, arterial, capillary, or combined). (arupconsult.com)
- Vascular malformation syndromes are typically categorized according to vessel type affected and fast- vs. slow-flow lesions. (arupconsult.com)
-   Proteus syndrome is characterised by nevi , asymmetric overgrowth of various body parts, adipose tissue dysregulation, cystadenomas , adenomas , vascular malformation. (wikipedia.org)
- Proteus syndrome is a rare genetic disorder characterized by overgrowth of bones، skin، and other tissues، with vascular malformations، epidermal moles، and subcutaneous masses. (magiran.com)
- We have named this condition congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) on a heuristic basis. (nih.gov)
- Greene AK, Rogers GF, Mulliken JB (2007) Schimmelpenning syndrome: an association with vascular anomalies. (springer.com)
- Parkes-Weber syndrome refers to the association of a capillary vascular malformation with an arteriovenous malformation . (dermnetnz.org)
- Klippel-Trénaunay syndrome refers to the association of a capillary vascular malformation with a venous and a lymphatic malformation. (dermnetnz.org)
- Some syndromes have vascular malformations causing the hypertrophy. (pediatriceducation.org)
- The musculoskeletal manifestations of Proteus syndrome are frequent and recognizable. (wikipedia.org)
- He named it for the Greek God Proteus "the polymorphous" presumably because of the variable manifestations in the four unrelated boys first identified with the syndrome. (lymphedemapeople.com)
- Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease. (lymphedemapeople.com)
- We report on two patients with Proteus syndrome (PS), with emphasis on its pulmonary manifestations. (lymphedemapeople.com)
- There may be many more than this, but those individuals correctly diagnosed usually have the most obvious manifestations of Proteus syndrome, leaving them severely disfigured. (academickids.com)
- The ENT manifestations of Proteus syndrome are high arched palate, gingival hypertrophy , malocclusion and overcrowding of teeth, hyperostosis of the external auditory meatus, and low nasal bridge. (symptoma.com)
- Dietrich RB, Glidden DE, Roth GM et al (1998) The Proteus syndrome: CNS manifestations. (springer.com)
- McCall S, Ramzy MI, Cure JK, Pai GS (1992) Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations. (springer.com)
- In an overview of several epidermal nevus syndromes, it is observed that epidermal nevi on the head and face are more commonly associated with central nervous system manifestations, with brain, skull, and eye abnormalities. (news-medical.net)
- clarification needed] Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. (wikipedia.org)
- 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)
- Neoplasias - Parotid gland adenomas , ovarian cystadenomas , and sometimes meningiomas are tumor types that are strongly correlated with Proteus syndrome. (symptoma.com)
- Patients with Maffucci syndrome are at risk to developing a malignant tumor, particularly a tumor of cartilage known as "chondrosarcoma. (rarediseases.org)
- As follow up to the current study, NHGRI researchers plan to test DNA from the skeleton of Joseph Merrick to determine whether Proteus syndrome caused his dramatic disfigurement. (genome.gov)
- 2021 The diagnosis is Proteus syndrome, made famous by Joseph Merrick, the Elephant Man. (merriam-webster.com)
- Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. (wikipedia.org)
- There are currently no known genetic tests to detect Proteus syndrome. (health24.com)
- 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. (childrensnational.org)
- Proteus syndrome is a rare genetic disorder distinguished by an overgrowth of many different tissues in the body in a mosaic pattern. (symptoma.com)
- A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an ""unparalleled collection of knowledge. (wiley.com)
- This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. (wiley.com)
- Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. (wiley.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)
- 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)
- 2011. Genetic testing for Lynch syndrome in individuals newly diagnosed with colorectal cancer to reduce morbidity and mortality from colorectal cancer in their relatives. (nap.edu)
- Although they knew this patient did not have an overgrowth syndrome, the resident and attending physicians used the Online Mendelian Inheritance in Man genetic library from the National Library of Medicine to look up the latest information about Klippel-Trenaunay-Weber and also Beckwith-Wiedemann syndrome as there was a family history of omphalocoele. (pediatriceducation.org)
- Patients with Proteus syndrome can have regular bone configuration and contours despite the bone enlargement. (wikipedia.org)
- However, these patients were later determined to have a Proteus-like syndrome, such as Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome. (health24.com)
- Hypertrophy, an increase in the size of an organ or specific area of tissue, occurs in patients with Proteus syndrome. (health24.com)
- A coagulation workup may be indicated preoperatively for patients with Proteus syndrome in light of the apparent increased risks for thrombotic events such as deep vein thrombosis (DVT) or pulmonary embolism (PE). (medscape.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)
- Subsequently the NHGRI team presented at the 2014 meeting of the American Society of Human Genetics (ASHG, Abstract # 2180M2) data that demonstrate that treatment with ARQ 092 caused a rapid shutdown of AKT signaling and a reduction in the viability of Proteus syndrome cells taken from patients compared to untreated diseased cells. (proteus-syndrome.org)
- The goal of the trial is to identify a safe and effective dose to treat Proteus syndrome patients soon after diagnosis. (proteus-syndrome.org)
- This study resolves a daunting challenge in clinical genetics and offers hope for patients with Proteus syndrome," said NHGRI Director Eric D. Green, M.D., Ph.D. "This rare disorder has been the focus of curiosity and medical observation for decades but until now has never been biologically explained. (genome.gov)
- This is an open label, Phase 1/2 study of oral ARQ 092 administered to patients at least 2 years of age with PIK3CA-related Overgrowth Spectrum (PROS) and Proteus syndrome (PS). (clinicaltrials.gov)
- 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. (childrensnational.org)
- Patients with Proteus syndrome may be at danger for forming blood clots in the legs a disorder known as deep vein thrombosis (DVT). (smashwords.com)
- METHODS: We performed exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients. (elsevier.com)
- We confirmed and extended an observed association, using a custom restriction-enzyme assay to analyze the DNA in 158 samples from 29 patients with the Proteus syndrome. (elsevier.com)
- Patients with Proteus syndrome experience changes in the shapes of certain body structures over time, including abnormal, often asymmetric, massive growth (overgrowth) of the skeleton, skin, adipose tissue and central nervous system out of proportion to the rest of the body. (businesswire.com)
- There are currently no approved medicinal treatments for Proteus syndrome, leaving patients with minimal treatment options to manage the disease and a mortality of 25% by age 22. (businesswire.com)
- Less frequently, other malignant, non-skeletal connective tissue neoplasms can occur in patients with Maffucci syndrome. (rarediseases.org)
- Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. (nih.gov)
- Broadening the spectrum of Ehlers Danlos syndrome in patients with congenital adrenal hyperplasia. (nih.gov)
- Abstract Twenty-eight patients with limb overgrowth and the diagnosis of Klippel-Trenaunay-Weber or Proteus syndromes were evaluated retrospectively. (orthopaedicweblinks.com)
- Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patients. (harvard.edu)
- Given the severe complications of this syndrome and the risk of early death in the patients، early diagnosis is essential for reducing the risk of morbidity and mortality. (magiran.com)
- We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder and whose natural history is distinct from that of Proteus syndrome. (nih.gov)
- Orthodontic management of long face syndrome Long face syndrome is among the most difficult problems encountered in the practice of orthodontics and unless orthodontic treatments are carefully monitored and controlled, patients with long face syndrome risk developing even more severe characteristics of the syndrome. (nmculturenet.org)
Lymphoedema Secondary to Proteus Syndrome1
- To our knowledge penile lymphoedema secondary to Proteus syndrome has not previously been reported. (lymphedemapeople.com)
Growth characteristic of Proteus syndrome1
- Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristic of Proteus syndrome. (medlineplus.gov)
- Parkes Weber syndrome Sotos syndrome Hemangiomas. (wikipedia.org)
- Do you know of a Disease called Proteus Syndrome? (prezi.com)
- The disease is also known as Wiedemann's dysmelia syndrome, after Dr. H. Wiedemann, who coined the term "Proteus syndrome" in 1983. (health24.com)
- Proteus syndrome is the first rare disease indication to enter phase 1 for ARQ 092, and we are pleased to have received orphan drug designation from the FDA. (proteus-syndrome.org)
- The incidence of Proteus syndrome classifies it as a rare disorder, defined by the National Organization of Rare Diseases (NORD) as any disease affecting fewer than 200,000 Americans. (proteus-syndrome.org)
- Proteus syndrome gained wide public attention in 1980, through the movie "The Elephant Man," about a man depicted as having the disease. (genome.gov)
- Proteus syndrome can be a complex disease to treat, as it manifests differently in every patient," said Dr. Blakemore. (childrensnational.org)
- Proteus Syndrome is a rare congenital disease, which is characterized by skin overgrowth and atypical bone growth. (medigoo.com)
- The history of the disease name came from Greek mythology, it is believed that god of the sea Proteus possessed the ability to change the shape of his body. (medigoo.com)
- Proteus syndrome may be complicated by kidney abnormalities, cystic lung disease, eye disorders such as crossed eyes, tumors, and cysts of the eyeballs. (medigoo.com)
- It is not possible to get rid of the syndrome as well as from any other congenital or hereditary disease. (medigoo.com)
- Studies have shown that he was most likely suffering from an incredibly rare disease known as Proteus syndrome. (listverse.com)
- Miransertib has already been granted Rare Pediatric Disease Designation by the FDA and Orphan Designation by the FDA and European Medicines Agency in the rare overgrowth disease, Proteus syndrome. (businesswire.com)
- Other potential complications of Proteus syndrome include an increased risk of developing various types of noncancerous (benign) tumors and a type of blood clot called a deep venous thrombosis (DVT) . (medlineplus.gov)
- 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)
- Proteus Syndrome is a rare disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body. (prezi.com)
- Individuals with proteus syndrome develop some kind of tumors. (medigoo.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)
- 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)
- Proteus syndrome is a bizare clinical condition characterized by overgrowth of various body parts, hemihypertrophy, multiple cutaneous nevi, unusual skeletal malforma-tions, soft tissue tumors and visceral anomalies. (indianpediatrics.net)
- An inherited syndrome marked by polyps of the colon and brain tumors. (dictionary.com)
Lesions in Proteus syndrome1
- The lesions in Proteus syndrome tend to be progressive and minor variations in size may become more apparent with growth. (indianpediatrics.net)
- citation needed] The disorder itself does not uniformly cause learning impairments: the distribution of intelligence deficits among sufferers of Proteus syndrome appears higher than that of the general population, although this is difficult to determine with statistical significance. (wikipedia.org)
- Proteus Syndrome can cause differences in the appearance and growth rate of of different parts of the body and remains an extremely rare congenital disorder that develops as you get older. (ableize.com)
- Also known as Wiedmann's Syndrome, this condition in a congenital disorder. (lymphedemapeople.com)
- Proteus syndrome is an extremely rare disorder, making tissue sample collection especially challenging," said Laura L. Tosi, MD , of the Division of Orthopaedic Surgery and Sports Medicine at Children's National. (childrensnational.org)
- Newborns with Proteus syndrome have few or no signs of the disorder. (cdc.gov)
- Proteus syndrome (PS) is a rare congenital hamartomatous disorder with multisystem involvement. (bvsalud.org)
- Maffucci syndrome is an extremely rare disorder characterized by benign overgrowths of cartilage (enchondromas), skeletal deformities and cutaneous lesions composed of abnormal blood vessels. (rarediseases.org)
-   Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterised by hamartomatous intestinal polyposis, macrocephaly , lipomatosis , hemangiomatosis and glans penis macules. (wikipedia.org)
- Only in 1986 was it conjectured that he had Proteus syndrome , a very rare congenital disorder also known as Wiedemann syndrome (named after the German pediatrician Hans-Rudolf Wiedemann). (wikipedia.org)
- BURLINGTON, Mass., Nov. 17, 2015 (GLOBE NEWSWIRE) - ArQule, Inc. (NASDAQ:ARQL) and the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) today announced enrollment of the first patient in the phase 1 clinical trial for Proteus syndrome. (proteus-syndrome.org)
- These findings provided pre-clinical proof-of-concept for advancement of ARQ 092 into clinical testing for Proteus syndrome. (proteus-syndrome.org)
- We are excited to continue our collaboration with Dr. Biesecker and the NHGRI team on the first therapeutic drug clinical trial launched for Proteus syndrome," said Brian Schwartz, M.D., Head of Research and Development and Chief Medical Officer at ArQule. (proteus-syndrome.org)
- Although Proteus syndrome is rarely encountered in clinical practice, several distinct signs are recognized in the affected population. (symptoma.com)
- Although they all have distinct clinical features, the formation of hamartomas is present in all four syndromes. (wikipedia.org)
- The gene variant that triggers Proteus occurs spontaneously in affected individuals during embryonic development, but symptoms only appear in the child's first two years. (childrensnational.org)
- Hamartoma Syndrome, Multiple" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
- This graph shows the total number of publications written about "Hamartoma Syndrome, Multiple" by people in Harvard Catalyst Profiles by year, and whether "Hamartoma Syndrome, Multiple" was a major or minor topic of these publication. (harvard.edu)
- Below are the most recent publications written about "Hamartoma Syndrome, Multiple" by people in Profiles. (harvard.edu)
- Symptomatic diffuse colonic lipomatosis in Proteus syndrome. (royalfree.nhs.uk)
- This abnormal condition is also known as Wiedemann's Syndrome named after the German pediatrician Hans-Rudolf Wiedemann. (bukisa.com)
- Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. (nih.gov)
- Increased cell proliferation in various tissues and organs leads to the overgrowth characteristic of Proteus syndrome. (nih.gov)
- In contrast to the bony distortion so characteristic of Proteus syndrome, distortion in CLOVE syndrome occurs only following major or radical surgery. (nih.gov)
Characterized by overgrowth2
- Physical exam: The diagnostic criteria for Proteus syndrome have not been clearly defined, and precise tests are not currently available. (health24.com)
- See Proteus syndrome diagnostic criteria, category A, in Physical. (medscape.com)
- Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. (medscape.com)
- Additionally, ArQule received orphan drug designation from the Federal Drug Administration (FDA) for ARQ 092 in Proteus syndrome. (proteus-syndrome.org)
- Gorlin RJ, Cohen MM, Hennekam RCM (2001) Syndromes of the Head and Neck, 4th edn. (springer.com)
- Researchers believe that Proteus syndrome may be overdiagnosed, as some individuals with other conditions featuring asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. (medlineplus.gov)
- It is unknown how many individuals have Proteus syndrome because not all cases are reported. (health24.com)
- Founded to support and educate families and professionals and to raise money for research to find a cure for individuals living with Proteus Syndrome. (ableize.com)
- At this time, there are more than 120 documented cases worldwide, but because not all cases are documented, it is not known how many individuals have this syndrome. (proteus-syndrome.org)
- We focus on providing family support in the form of education and networking individuals living with Proteus syndrome with other families and medical professionals. (proteus-syndrome.org)
-  This is why only a portion of the body is affected and why individuals with Proteus syndrome can be very differently affected. (cdc.gov)
- The eyes are said to be the windows of the soul but some individuals are unfortunate to be born with eye defects such as the so-called Cat Eye Syndrome or CES. (bukisa.com)
Affects both sexes2
- Here a 16-year-old man with asymmetric overgrowth of the extremities, macrodactyly, cerebriform hypertrophy of the soles and various skin and bony lesions is reported diagnosed as Proteus syndrome. (iranjd.ir)
- This report documents a 25-year-old man with Proteus syndrome who presented with progressive exertional dyspnea and asymmetric overgrowth of his extremities. (symptoma.com)
- An 11-year-old girl with Proteus syndrome was presented with extensive hemangioma، asymmetrical growth in lower limbs، skin and bone lesions، and facial hemihypertrophy. (magiran.com)
- The first sign of Maffucci syndrome is usually finding an enchondroma in a long bone. (rarediseases.org)
- Nuyen, Aria Jafari and Javan Nation, Refractory sleep-disordered breathing due to unilateral lingual tonsillar hypertrophy in a child with Proteus Syndrome, International Journal of Pediatric Otorhinolaryngology, 95, (114), (2017). (symptoma.com)
Overgrowth of skin1
- Proteus syndrome is characterized as an overgrowth of skin, bones, and soft tissue. (patientslikeme.com)
- Amanda Morris, azcentral , "He's the oldest-known man with rare Proteus syndrome and he hopes to help find a cure," 28 Jan. 2020 People with diabetes have higher-than-normal glucose levels in their blood, and depend on prescription insulin to regulate those levels and prevent potentially life-threatening complications. (merriam-webster.com)
- Symptoms consistent with Proteus syndrome were first described by Dr. M. Cohen, Jr. in 1979. (health24.com)
- First identified in 1979 by Michael Cohen, Jr., MDM, Ph.D.. In 1983, it was name Proteus Syndrome by a German pediatrician, Has Rudolf Wiedmann. (lymphedemapeople.com)
- Proteus Syndrome was identified in 1979 and it is estimated that there are only 120 people currently alive with this extremely rare condition. (bukisa.com)
- Cohen MM Jr, Hayden PW (1979) A newly recognized hamartomatous syndrome. (springer.com)
- This type of skin growth usually occurs on the soles of the feet and is hardly ever seen in conditions other than Proteus syndrome. (medlineplus.gov)
- We describe a case of a 17-year-old girl with Proteus syndrome presented with symptomatic anaemia secondary to chronic rectal bleeding. (lymphedemapeople.com)