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 (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.Facial Asymmetry: Congenital or acquired asymmetry of the face.Lipomatosis: A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA.Hyperostosis: Increase in the mass of bone per unit volume.Proteus: 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.Proteus mirabilis: 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.Proteus vulgaris: 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.Nevus: 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.Proteus Infections: Infections with bacteria of the genus PROTEUS.Mosaicism: 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.Syndrome: A characteristic symptom complex.National Human Genome Research Institute (U.S.): Component of the NATIONAL INSTITUTES OF HEALTH. It conducts and supports research into the mapping of the human genome and other organism genomes. The National Center for Human Genome Research was established in 1989 and re-named the National Human Genome Research Institute in 1997.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.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: A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.Compartment Syndromes: 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.Osteitis Deformans: A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.Infant, Newborn: An infant during the first month after birth.Bone and Bones: A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principle cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.Surgery, Plastic: The branch of surgery concerned with restoration, reconstruction, or improvement of defective, damaged, or missing structures.Privacy: The state of being free from intrusion or disturbance in one's private life or affairs. (Random House Unabridged Dictionary, 2d ed, 1993)Confidentiality: The privacy of information and its protection against unauthorized disclosure.Facial Injuries: General or unspecified injuries to the soft tissue or bony portions of the face.Computer Security: Protective measures against unauthorized access to or interference with computer operating systems, telecommunications, or data structures, especially the modification, deletion, destruction, or release of data in computers. It includes methods of forestalling interference by computer viruses or so-called computer hackers aiming to compromise stored data.Facial Bones: The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113)Craniofacial Dysostosis: Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.ArchivesHuman Genome Project: A coordinated effort of researchers to map (CHROMOSOME MAPPING) and sequence (SEQUENCE ANALYSIS, DNA) the human GENOME.Literature: Writings having excellence of form or expression and expressing ideas of permanent or universal interest. The body of written works produced in a particular language, country, or age. (Webster, 3d ed)Anthropology, Cultural: It is the study of social phenomena which characterize the learned, shared, and transmitted social activities of particular ethnic groups with focus on the causes, consequences, and complexities of human social and cultural variability.Elephants: Large mammals in the family Elephantidae, with columnar limbs, bulky bodies, and elongated snouts. They are the only surviving members of the PROBOSCIDEA MAMMALS.Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).Sister Mary Joseph's Nodule: Metastatic lesion of the UMBILICUS associated with intra-abdominal neoplasms especially of the GASTROINTESTINAL TRACT or OVARY.Umbilicus: The pit in the center of the ABDOMINAL WALL marking the point where the UMBILICAL CORD entered in the FETUS.Ichthyosis, Lamellar: A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.Ichthyosis: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.Etretinate: An oral retinoid used in the treatment of keratotic genodermatosis, lichen planus, and psoriasis. Beneficial effects have also been claimed in the prophylaxis of epithelial neoplasia. The compound may be teratogenic.Hydrops Fetalis: Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS.Ichthyosis Vulgaris: Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.Ichthyosis, X-Linked: Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.Cystatin M: A cystatin subtype that has a diverse tissue distribution, target specificity, and functions as an endogenous inhibitor of lysosomal cysteine proteases.Poly A: A group of adenine ribonucleotides in which the phosphate residues of each adenine ribonucleotide act as bridges in forming diester linkages between the ribose moieties.Editorial Policies: The guidelines and policy statements set forth by the editor(s) or editorial board of a publication.Periodicals as Topic: A publication issued at stated, more or less regular, intervals.Fagopyrum: A plant genus of the family POLYGONACEAE that is used as an EDIBLE GRAIN. Although the seeds are used as cereal, the plant is not one of the cereal grasses (POACEAE).Authorship: The profession of writing. Also the identity of the writer as the creator of a literary production.User-Computer Interface: The portion of an interactive computer program that issues messages to and receives commands from a user.Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Computer Graphics: The process of pictorial communication, between human and computers, in which the computer input and output have the form of charts, drawings, or other appropriate pictorial representation.Web Browser: Software application for retrieving, presenting and traversing information resources on the World Wide Web.Programming Languages: Specific languages used to prepare computer programs.Information Storage and Retrieval: Organized activities related to the storage, location, search, and retrieval of information.

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)

  • 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)
  • Proteus syndrome is diagnosed on the basis of strict guidelines which include the medical history, the symptoms present, a complete physical examination, and laboratory testing. (news-medical.net)
  • Keratinocytic nevi are frequent in this condition, occurring as velvety overgrowths of the skin, being found in at least half the people affected with Proteus syndrome. (news-medical.net)
  • Mutations in this gene have been associated with the Proteus syndrome. (goldbio.com)
  • Isolated hemihypertrophy is, in fact, part of the spectrum of phenotypes of Beckwith-Wiedemann syndrome: methylation studies of the LIT1 and H19, and mosaic paternal uniparental disomy for 11p15. (ucla.edu)
  • 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)
  • However, it is now widely believed that the patient actually suffered from a severe case of Proteus syndrome. (health24.com)
  • 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)
  • 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. (bio-medicine.org)
  • Children's National has a vision that surgery might be less painful and more precise for pediatric patients, especially those who require multiple surgeries and lifelong support, as in the case of Proteus syndrome," said Dr. Newman, who was recently named the incoming president and CEO of Children's National. (bio-medicine.org)
  • Proteus syndrome is a rare disorder that has 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)
  • 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)
  • 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)
  • Happle R. Lipomatosis and partial lipohypoplasia in Proteus syndrome: a clinical clue for twin spotting? (medscape.com)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • In cases in which the critical organs are affected, complications of Proteus syndrome may be severe. (health24.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)
  • The inconsistency of symptoms linked with Proteus is because of the ratio of healthy cells to abnormal cells. (smashwords.com)
  • Proteus syndrome can include abnormal enlargement of internal organs such as colon, spleen, thymus and other tissues. (medigoo.com)
  • This abnormal condition is also known as Wiedemann's Syndrome named after the German pediatrician Hans-Rudolf Wiedemann. (bukisa.com)
  • 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)
  • Cerebriform plantar hyperplasia: the clinico-pathological hallmark of Proteus syndrome. (lymphedemapeople.com)
  • 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)
  • Newborns with Proteus syndrome have few or no signs of the disorder. (cdc.gov)
  • 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. (bio-medicine.org)
  • 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)
  • 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)
  • 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)
  • Proteus Syndrome is related to Biology because it has to do with genetics. (prezi.com)
  • 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)