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.
Congenital or acquired asymmetry of the face.
A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA.
Increase in the mass of bone per unit volume.
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.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria that is frequently isolated from clinical specimens. Its most common site of infection is the urinary tract.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria that occurs in soil, fecal matter, and sewage. It is an opportunistic pathogen and causes cystitis and pyelonephritis.
A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin.
Infections with bacteria of the genus PROTEUS.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.

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)

Proteus Syndrome is a rare genetic disorder characterized by progressive overgrowth of skin, bones, muscles, and other tissues. It is caused by a mutation in the AKT1 gene, which regulates cell growth and division. The disorder is named after the Greek sea-god Proteus, who could change his shape at will, as people with this condition often have highly variable and asymmetric features.

The symptoms of Proteus Syndrome can vary widely from person to person, but may include:

1. Overgrowth of skin, which can lead to the formation of thickened, rough, or irregular areas of skin (known as "cerebriform" skin) and deep creases or folds.
2. Asymmetric overgrowth of bones, muscles, and other tissues, leading to differences in size and shape between the two sides of the body.
3. The formation of benign tumors (such as lipomas and lymphangiomas) and abnormal blood vessels.
4. Abnormalities of the brain, eyes, and other organs.
5. Increased risk of developing certain types of cancer.

Proteus Syndrome is typically diagnosed based on a combination of clinical features, medical imaging, and genetic testing. There is no cure for the disorder, but treatment is focused on managing symptoms and preventing complications. This may involve surgery to remove tumors or correct bone deformities, physical therapy to improve mobility and strength, and medications to control pain and other symptoms.

Facial asymmetry refers to a condition in which the facial features are not identical or proportionate on both sides of a vertical line drawn down the middle of the face. This can include differences in the size, shape, or positioning of facial features such as the eyes, ears, nose, cheeks, and jaw. Facial asymmetry can be mild and barely noticeable, or it can be more severe and affect a person's appearance and/or functionality of the mouth and jaw.

Facial asymmetry can be present at birth (congenital) or can develop later in life due to various factors such as injury, surgery, growth disorders, nerve damage, or tumors. In some cases, facial asymmetry may not cause any medical problems and may only be of cosmetic concern. However, in other cases, it may indicate an underlying medical condition that requires treatment.

Depending on the severity and cause of the facial asymmetry, treatment options may include cosmetic procedures such as fillers or surgery, orthodontic treatment, physical therapy, or medication to address any underlying conditions.

Lipomatosis is a medical term that refers to a condition characterized by the abnormal growth of fatty tumors (lipomas) in various parts of the body. These lipomas are benign, soft, and rubbery masses made up of adipose or fatty tissue. Unlike isolated lipomas, which occur as solitary lumps under the skin, lipomatosis is a more widespread condition where multiple lipomas develop in a diffuse pattern, affecting a particular region or area of the body.

There are different types of lipomatosis, including:

1. Diffuse Lipomatosis: This type involves the growth of numerous small lipomas distributed throughout the subcutaneous tissue, giving the affected area a doughy feel and appearance.
2. Adiposis Dolorosa or Dercum's Disease: A rare condition characterized by painful and tender lipomas typically found in the trunk, arms, and legs. It primarily affects middle-aged women and can be accompanied by other systemic symptoms like fatigue, memory problems, and depression.
3. Multiple Symmetric Lipomatosis (MSL) or Madelung's Disease: This condition predominantly affects middle-aged men, particularly those with a history of alcohol abuse. It is characterized by the growth of large, symmetrical lipomas around the neck, shoulders, and upper trunk, leading to a "horse collar" appearance.
4. Familial Multiple Lipomatosis: An inherited condition where multiple benign fatty tumors develop in various parts of the body, usually appearing during adulthood. It tends to run in families with an autosomal dominant pattern of inheritance.

Treatment for lipomatosis typically involves surgical removal of the lipomas if they cause discomfort, limit mobility, or negatively impact a person's appearance. Regular monitoring and follow-up appointments with healthcare professionals are essential to ensure that no malignant changes occur in the lipomas over time.

Hyperostosis is a medical term that refers to an excessive growth or abnormal thickening of bone tissue. It can occur as a result of various conditions, such as inflammation, injury, or genetic disorders. The extra bone growth can cause pain, stiffness, and limited mobility in the affected area. In some cases, hyperostosis can also lead to deformities and other complications.

There are several types of hyperostosis, including:

1. Diffuse idiopathic skeletal hyperostosis (DISH): This is a condition that affects the spine, causing calcification and stiffening of the ligaments and bone spurs to form along the edges of the vertebrae. It is often asymptomatic but can cause pain and stiffness in some cases.
2. Flat bone hyperostosis: This type of hyperostosis affects the flat bones of the body, such as the skull, ribs, and pelvis. It can be caused by various conditions, including Paget's disease, fibrous dysplasia, and certain types of cancer.
3. Focal hyperostosis: This refers to localized areas of bone overgrowth that can occur in response to injury, infection, or inflammation. Examples include heterotopic ossification (the formation of bone in soft tissues) and Freiberg's infarction (a condition that affects the joint surface of the metatarsal bones in the foot).
4. Hyperostosis frontalis interna: This is a benign condition that causes thickening of the inner table of the frontal bone in the skull. It is more common in women and often asymptomatic but can cause headaches and other symptoms in some cases.

Treatment for hyperostosis depends on the underlying cause and severity of the condition. In some cases, no treatment may be necessary. However, if the condition causes pain or limits mobility, various treatments may be recommended, such as medication, physical therapy, or surgery.

'Proteus' doesn't have a specific medical definition itself, but it is related to a syndrome in medicine. Proteus syndrome is a rare genetic disorder characterized by the overgrowth of various tissues and organs in the body. The name "Proteus" comes from the Greek god Proteus, who could change his form at will, reflecting the diverse and ever-changing nature of this condition's symptoms.

People with Proteus syndrome experience asymmetric overgrowth of bones, skin, and other tissues, leading to abnormalities in body shape and function. The disorder can also affect blood vessels, causing benign tumors called hamartomas to develop. Additionally, individuals with Proteus syndrome are at an increased risk of developing certain types of cancer.

The genetic mutation responsible for Proteus syndrome is found in the AKT1 gene, which plays a crucial role in cell growth and division. This disorder is typically not inherited but instead arises spontaneously as a new mutation in the affected individual. Early diagnosis and management of Proteus syndrome can help improve patients' quality of life and reduce complications associated with the condition.

Proteus mirabilis is a species of Gram-negative, facultatively anaerobic, rod-shaped bacteria that are commonly found in the environment, particularly in soil and water. In humans, P. mirabilis can be part of the normal gut flora but can also cause opportunistic infections, particularly in the urinary tract. It is known for its ability to produce urease, which can lead to the formation of urinary stones and blockages.

P. mirabilis infections are often associated with underlying medical conditions such as diabetes, kidney disease, or urinary catheterization. Symptoms of a P. mirabilis infection may include fever, cloudy or foul-smelling urine, and pain or burning during urination. Treatment typically involves antibiotics that are effective against Gram-negative bacteria, although resistance to certain antibiotics is not uncommon in P. mirabilis isolates.

Proteus vulgaris is a species of Gram-negative, facultatively anaerobic, rod-shaped bacteria that are commonly found in soil, water, and the human digestive tract. They are named after the Greek god Proteus, who could change his shape at will, as these bacteria are known for their ability to undergo various morphological changes.

Proteus vulgaris is a member of the family Enterobacteriaceae and can cause opportunistic infections in humans, particularly in individuals with weakened immune systems or underlying medical conditions. They can cause a variety of infections, including urinary tract infections, wound infections, pneumonia, and bacteremia (bloodstream infections).

Proteus vulgaris is also known for its ability to produce urease, an enzyme that breaks down urea into ammonia and carbon dioxide. This can lead to the formation of urinary stones and contribute to the development of chronic urinary tract infections. Additionally, Proteus vulgaris can form biofilms, which can make it difficult to eradicate the bacteria from infected sites.

In a medical context, identifying Proteus vulgaris is important for determining appropriate antibiotic therapy and managing infections caused by this organism.

A nevus, also known as a mole, is a benign growth or mark on the skin that is usually brown or black. It can be raised or flat and can appear anywhere on the body. Nevi are made up of cells called melanocytes, which produce the pigment melanin. Most nevi develop in childhood or adolescence, but they can also appear later in life. Some people have many nevi, while others have few or none.

There are several types of nevi, including:

* Common nevi: These are the most common type of mole and are usually small, round, and brown or black. They can be flat or raised and can appear anywhere on the body.
* Atypical nevi: These moles are larger than common nevi and have irregular borders and color. They may be flat or raised and can appear anywhere on the body, but are most commonly found on the trunk and extremities. Atypical nevi are more likely to develop into melanoma, a type of skin cancer, than common nevi.
* Congenital nevi: These moles are present at birth and can vary in size from small to large. They are more likely to develop into melanoma than moles that develop later in life.
* Spitz nevi: These are rare, benign growths that typically appear in children and adolescents. They are usually pink or red and dome-shaped.

It is important to monitor nevi for changes in size, shape, color, and texture, as these can be signs of melanoma. If you notice any changes in a mole, or if you have a new mole that is unusual or bleeding, it is important to see a healthcare provider for further evaluation.

Proteus infections are caused by the bacterium Proteus mirabilis or other Proteus species. These bacteria are gram-negative, opportunistic pathogens that can cause various types of infections, including urinary tract infections (UTIs), wound infections, and bacteremia (bloodstream infections). Proteus infections are often associated with complicated UTIs, catheter-associated UTIs, and healthcare-associated infections. They can be difficult to treat due to their ability to produce enzymes that inactivate certain antibiotics and form biofilms.

Proteus infections can cause symptoms such as fever, chills, fatigue, and discomfort in the affected area. In UTIs, patients may experience symptoms like burning during urination, frequent urges to urinate, and cloudy or foul-smelling urine. Wound infections caused by Proteus can lead to delayed healing, increased pain, and pus formation. Bacteremia can cause sepsis, a life-threatening condition that requires immediate medical attention.

Treatment for Proteus infections typically involves antibiotics, such as fluoroquinolones, trimethoprim-sulfamethoxazole, or carbapenems. The choice of antibiotic depends on the severity and location of the infection, as well as the patient's overall health status and any underlying medical conditions. In some cases, surgical intervention may be necessary to drain abscesses or remove infected devices like catheters.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

... syndrome Parkes Weber syndrome Sotos syndrome Hemangiomas Many sources classify Proteus syndrome to be a type of nevus syndrome ... 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 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 is a rare condition that can be loosely categorized as a hamartomatous disorder. It is a complex disorder with ... Signs and symptoms of Proteus syndrome. The following are characteristics of Proteus syndrome:. * When present at birth, ... encoded search term (Proteus Syndrome) and Proteus Syndrome What to Read Next on Medscape ... Infantile seizures, specifically Ohtahara syndrome, have been described in several patients with Proteus syndrome in ...
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 Clinical Presentation. Updated: Jun 13, 2018 * Author: Megan E Barry, MD; Chief Editor: Luis O Rohena, MD, PhD ...
Proteus-like syndrome. Disease definition Proteus-like syndrome describes patients who do not meet the diagnostic criteria for ... Proteus-like syndrome has the clinical features of Proteus syndrome but lacks some of the required criteria necessary for ... of Proteus-like syndrome cases, making them a part of the PTEN harmatoma tumor syndrome (PHTS; see this term) group. To date, ... mutations in AKT1 have not been reported in Proteus-like patients. It is possible that Proteus-like patients will have somatic ...
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 ...
Proteus Syndrome. Proteus syndrome is a rare, extremely variable disorder of unknown cause that may be characterized by partial ...
Proteus syndrome is a congenital hamartomatous syndrome characterised by a variety of malformations. In 1989 Samalaska et al,[1 ... The first Indian report of Proteus syndrome was by George and Jacob in 1993.[3] More cases have subsequently been reported.[4], ... It could be assumed that many subtle forms of Proteus syndrome do exist and the condition may not be as rare as generally ... In our patient except for hypertrichosis, most of the features of Proteus syndrome were of a mild to moderate severity. On the ...
Proteus Syndrome Treatment Market is expected to register a steady revenue CAGR during the forecast period. The global ... Proteus syndrome manifests itself in newborns with few or no symptoms. Overgrowth appears between the ages of 6 and 18 months ... Proteus syndrome is a rare condition characterized by bone, skin, and other tissue overgrowths. The disease causes organs and ... In proteus syndrome, blood vessels (vascular tissue) and fat (adipose tissue) can both grow abnormally. The condition can also ...
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 ... Infantile seizures, specifically Ohtahara syndrome, have been described in several patients with Proteus syndrome in ... Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. Seizure. 2008 Jun. 17(4):378-82 ...
We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation ( ... The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. ... This case adds a new perspective to the established clinical findings of the Proteus syndrome. ... arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome. ...
Overgrowth syndromes March 24 2017 Panel testing recommended at Breda Genetics for this conditions: Overgrowth syndromes (AKT1 ...
Proteus Syndrome (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 ... Proteus syndrome Proteus syndrome is a rare genetic disorder distinguished by an overgrowth of many different tissues in the ... What is the treatment for Proteus syndrome? There is no specific treatment for Proteus syndrome. The condition should be ...
10: Proteus Syndrome ". " Joseph Merrick, the "Elephant Man," poses for a photo. Universal History Archive/UIG via Getty images ... Proteus Syndrome is rarer than NF1, but it does have some of the same characteristics. It causes overgrowth of many parts of ... But scientists are now leaning toward identifying the Elephant Man condition as Proteus Syndrome. In fact, an ethnographic ... Proteus Syndrome. U.S. National Library of Medicine. June 2012. (April 24, 2015) http://ghr.nlm.nih.gov/condition/proteus- ...
A Phase 1/2 Study of ARQ 092 (Miransertib) in Subjects with PIK3CA-related Overgrowth Spectrum and Proteus Syndrome. *Charrow, ...
Genetic Disorders - Ambras, Under Tan, Ehler-Danlos, Proteus & Bloom Syndromes. Contributor: Gurpreet ...
Our lab offers custom gene sequencing to help diagnose tumor syndromes like Bannayan-Riley-Ruvalcaba syndrome and Proteus ... Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome, and Proteus-like syndrome. The majority of individuals with a PTEN ... Proteus syndrome (PS) is characterized by hemihypertrophy and subcutaneous tumors with Proteus-like syndrome referring to ... Proteus-like syndrome. Testing Methodology Testing is performed by Sanger sequencing of the entire coding regions and intron/ ...
Proteus syndrome and immunodeficiency. Hodge D, Misbah SA, Mueller RF, Glass EJ, Chetcuti PA. Hodge D, et al. Among authors: ... The Denys-Drash syndrome. Mueller RF. Mueller RF. J Med Genet. 1994 Jun;31(6):471-7. doi: 10.1136/jmg.31.6.471. J Med Genet. ... The Alagille syndrome (arteriohepatic dysplasia). Mueller RF. Mueller RF. J Med Genet. 1987 Oct;24(10):621-6. doi: 10.1136/jmg. ... The Schinzel-Giedion syndrome. al-Gazali LI, Farndon P, Burn J, Flannery DB, Davison C, Mueller RF. al-Gazali LI, et al. Among ...
A unique fatal case of Waterhouse-Friderichsen syndrome caused by Proteus mirabilis in an immunocompetent subject Case report ... The authors report the first case of death due to Proteus mirabilis infection, with postmortem evidence of WFS. Patient ... The authors report the first case of death due to Proteus mirabilis infection, with postmortem evidence of WFS. Patient ... Introduction: The Waterhouse-Friderichsen syndrome (WFS), also known as purpura fulminans, is a potentially lethal condition ...
Proteus Syndrome. The Boy in the Plastic Bubble. Director: Randal Kleiser. USA, 1976. Severe combined immunodeficiencies (SCID) ...
Its believed his deformities were a result of an extremely rare disease known as Proteus syndrome. ...
Dermatologic Manifestations of Proteus Syndrome * 20021056490-overviewDiseases & Conditions. Diseases & Conditions Connective ... In reports, the reporting authors termed the syndrome Haberland syndrome, from the names of the original authors. Approximately ... 2003/viewarticle/irritable-bowel-syndrome-can-you-manage-these-patients-2023a1000ldmeducation. Irritable Bowel Syndrome: Can ... Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?. Am ...
It is believed Merrick suffered from Proteus syndrome.. A spokesman for the Queen Mary University of London said his remains ...
K. B. Becktor, J. P. Becktor, P. S. Karnes et al., "Craniofacial and dental manifestations of Proteus syndrome: a case report ... It has been described in very few cases and occurs, for example, in GAPO syndrome [32]. Gapo syndrome is probably an autosomal- ... G. Sandgren, "GAPO syndrome: a new case," American Journal of Medical Genetics, vol. 58, no. 1, pp. 87-90, 1995. ... L. Esposito, L. Poletti, C. Maspero et al., "Hyper-IgE syndrome: dental implications," Oral Surgery, Oral Medicine, Oral ...
Proteus Family Network. The Proteus Family Network UK welcomes families affected by Proteus Syndrome and associated conditions. ... The Sturge-Weber Foundation UK is a voluntary support group for families and adult sufferers affected by Sturge-Weber syndrome. ...
... theres some speculation he had Proteus syndrome). ...
Below: Perhaps Proteus syndrome? The syndrome is named after the Greek sea-god Proteus, who could change his shape.] [Below: ... He has something called Beals-Hecht syndrome. Berwick no doubt rakes in the cash making light of his disability. Oh but it is ...
Asymmetric, disproportionate craniofacial hyperostoses of mosaic pattern in a patient not meeting proteus syndrome criteria ... Hallermann-Streiff Syndrome: No Evidence for a Link to Laminopathies ,►, Kortüm F, Chyrek M, Fuchs S, Albrecht B, Gillessen- ... Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care ,►, Schulte TL, Liljenqvist U, Görgens H, ... A further patient with van Maldergem syndrome ,►, Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N ,►, Eur ...
People with family history of a hamartomatous syndrome, such as Cowdens disease, tuberous sclerosis, and Proteus syndrome. ... However, on familial syndromes early screening is recommended. What to expect (Outlook/Prognosis)?. Hamartomas are generally ...

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