21. Proteus Syndrome Symptoms And Cases Of "Elephant Man Disease" proteus syndrome Symptoms and Cases of "Elephant Man Disease" Patrick C. Griffin Professor Kenneth Korey Anthropology 66 December 9, 1998 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Proteus' Syndrome (www.whonamedit.com) Proteus' syndrome A congenital syndrome characterised by a variety of abnormalities Also known as Wiedemann's syndrome. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. Discovery Health :: Frequently Asked Questions About Proteus Syndrome Find out more about the rare condition called proteus syndrome. http://health.discovery.com/convergence/elephantman/proteusfaq.html

var oasPositionArray = "x21,x24,TopLeft,Top3,x29,x12"; OAS_RICH("TopLeft"); September 09, 2005 Proteus Syndrome Related Links Frequently Asked Questions About Neurofibromatosis Back to The Curse of the Elephant Man Frequently Asked Questions About Proteus Syndrome By Elise Ritter In 1998, a panel of doctors at the National Institutes of Health surmised that Joseph Merrick's affliction may have been caused by a condition known as Proteus syndrome. Find out what it is and what causes it: Q: What are the signs of Proteus syndrome (PS)? A: Atypical development of bone and tissue, resulting in overgrowth and enlargement of hands, feet, skull and often one entire side of the body. Other signs are multiple benign tumors and raised rough skin. Q: Who is Proteus syndrome named after? A: The Greek god Proteus, who had the ability to change his body into different shapes in order to escape from his enemies. Q: How common is Proteus syndrome? A: It is very rare, with only about 100-200 individuals currently afflicted worldwide. Q: How is someone with Proteus syndrome treated medically today? Is there a cure?

24. OMIM - PROTEUS SYNDROME http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=176920

25. Entrez PubMed proteus syndrome is a complex disorder comprising malformations and overgrowth A 2year-old boy with proteus syndrome, with epidermal verrucal naevus, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

26. Proteus Syndrome The First National Conference on proteus syndrome found the most important The cause of proteus syndrome is unknown, and no specific gene mutation has http://www.thedoctorsdoctor.com/diseases/proteus_syndrome.htm

Background Some of the clinical features, such as subcutaneous masses, may occur at any site of the body; however, other findings are dependent on involvement of specific sites, such as cranial exostosis. Some of the major clinical features: Hemihypertrophy (partial or complete) Macrodactyly Subcutaneous masses (lipomatous, hemangiomatous, lymphangiomatous, and hybrid tumors) Plantar or palmar masses (connective tissue nevi or lipomas) Exostoses (cranial or distal) Epidermal nevus (linear or whorled) Scoliosis The First National Conference on Proteus Syndrome found the most important diagnostic criteria include: Mosaic distribution of lesions Progressive course Sporadic occurrence Connective tissue nevus Epidermal nevus Disproportionate overgrowth (limbs, skull, external auditory meatus, vertebra, or viscera) Specific tumors Dysregulated adipose tissue (lipomas, lipoatrophy) Vascular malformation, and facial phenotype PATHOGENESIS CHARACTERIZATION Possible somatic mutation The cause of Proteus syndrome is unknown, and no specific gene mutation has been identified

27. Proteus Syndrome Definition - Medical Dictionary Definitions Of Popular Medical Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=5087

28. Zoinkpanooley; Proteus Syndrome proteus syndrome was named after Proteus, the Greek sea god. Scientists alsohypothesize that proteus syndrome may be caused by a new somatic mutation, http://www.geocities.com/Tokyo/Pagoda/4224/proteus.html

Homepage Introduction What's New Site Index ... view guestbook ORIGIN OF NAME Proteus syndrome was named after Proteus, the Greek sea god. Proteus was portrayed as a prophet or king of the island of Pharos, near the Nile River's mouth, or of the island of Karpatos, between Rhodes and Crete. He lived in a cave on the island, and only when asleep, could he be made to give his prophecies. While awake, he was able to change his form at will, so as not to be recognized CAUSES Because of the rarity of the disease, the cause of the syndrome is somewhat unknown. There have been hypotheses made that on chromosome 1 there is an additional segment of heterochromatin and euchromatin attached to the long arm. Scientists also hypothesize that proteus syndrome may be caused by a new somatic mutation, otherwise known as a mutation of cells once the egg and sperm are united. It is also hypothesized that the symptoms most likely result from somatic mosaicism for a dominant fatal gene, but the gene locus still hasn't been acknowledged. No evidence for the hypotheses is currently available to support these and other hypotheses for the causes of the disease TYPE AND SYMPTOMS OF DISEASE The Elephant Man;

29. Proteus Syndrome Links to information and resources for proteus syndrome. http://rarediseases.about.com/cs/proteussyndrome/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Proteus Syndrome Guide picks A very rare hereditary disorder characterized by lesions of the lymph vessels, overgrowth on one side of the body, an abnormally large head, and abnormal spots on the skin. The Elephant Man's Bones Reveal Mystery Article looks at the medical findings in the case of John Merrick, the Elephant Man. From the About.com Guide to Rare/Orphan Diseases. Contact A Family (U.K.) Information on the syndrome and addresses of support groups in the U.K. Dermatology Online Atlas Photographs of a case of Proteus syndrome. Diagnostic Radiology Department at NIH (U.S.) Information on the syndrome from the Clinical Center at the National Institutes of Health (U.S.). NORD: Proteus Syndrome A brief definition from the National Organization for Rare Disorders (U.S.).

30. The Elephant Man's Bones Reveal Mystery Dr. Sharma determined that Merrick had proteus syndrome, an extremely rare disorder proteus syndrome Named for the Greek god who could change his shape, http://rarediseases.about.com/cs/proteussyndrome/a/031301.htm

var zLb=8; zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases O - R Rare Diseases: P - Q The Elephant Man's Bones Reveal Mystery Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Joseph Merrick, the "Elephant Man" Stay up to date! Compare Prices Joseph Merrick, the "Elephant Man" Email to a friend Print this page Elsewhere on the Web Who Was the Elephant Man? The Elephant Man's Mistaken Identity Elsewhere on the Web Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome adunitCM(150,100,'x55') The Elephant Man's Bones Reveal Mystery From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter.

31. Proteus Syndrome / Family Village Library Web http//www.proteussyndrome.org/. The proteus syndrome Foundation is a501 (c)3 not-for-profit organization founded in 1993 and governed by a voluntary http://www.familyvillage.wisc.edu/lib_proteus.html

Proteus Syndrome Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Proteus Syndrome" Who to Contact Proteus Syndrome Foundation 4915 Dry Stone Dr. Colorado Springs, Colorado, 80918 E-mail: proteusorg@aol.com Web: http://www.proteus-syndrome.org/ The Proteus Syndrome Foundation is a 501 (c)3 not-for-profit organization founded in 1993 and governed by a voluntary Board of Directors, most of whom are parents of a child with Proteus Syndrome. The main goals are patient and family support, publice education, medical staff education, promotion and funding of research and ultimately the treatment and cure of Proteus Syndrome. The Medical Advisory Board of the PSF consists of seven clinical and research medical professionals. This international group of men and women are noted experts on Proteus Syndrome throughout the world. Where to Go to Chat with Others We are unaware of any discussion forums specifically for this diagnosis. Learn More About It Proteus Syndrome - from eMedicine What is Proteus Syndrome?

32. Clinical Trial: Study Of Proteus Syndrome And Related Congenital Disorders It will focus on patients with proteus syndrome, whose physical features are Patients with proteus syndrome and their parents may be eligible for this http://www.clinicaltrials.gov/ct/gui/show/NCT00001403

Home Search Browse Resources ... About Study of Proteus Syndrome and Related Congenital Disorders This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) April 7, 2005 Sponsored by: National Human Genome Research Institute (NHGRI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will examine rare congenital disorders that involve malformations and abnormal growth. It will focus on patients with Proteus syndrome, whose physical features are characterized by overgrowth, benign tumors of fatty tissue or blood vessels, asymmetric arms or legs, and large feet with very thick soles. The study will explore the genetic and biochemical cause and course of the disease, the changes in symptoms over time, and the effects of the disease on patients. Patients with Proteus syndrome and their parents may be eligible for this study. Parents will be studied, when possible, for comparison of molecular findings. Study candidates will have a medical history and physical examination, including X-rays and possibly other imaging tests, such as computerized tomography (CT), magnetic resonance imaging (MRI) and ultrasound. Other tests and examinations may be done if needed. Those enrolled in the study will have will be interviewed or complete questionnaires, or both, about how their disease affects them. (Parents will be asked about their feelings about having a child with a rare disorder.) Patients will provide a small blood sample for research and may be asked to undergo biopsies from a normal area of skin and from a tumor.

33. Proteus Syndrome Detailed Information on Various Birthmarks, Hemangiomas and Vascular Malformations. http://www.birthmarks.us/proteus.htm

Proteus Syndrome Proteus syndrome is a rare complex condition, characterized by a variety of cutaneous and subcutaneous lesions including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. The major clinical features of this rare vascular anomaly include verrucous nevus, lipomas and/or lipomatosis, macrocephaly, asymmetric limbs with partial gigantism of the hands and feet, and cerebriform plantar thickening. Partial gigantism with limb or digital overgrowth is pathognomonic. No racial or ethnic differences in disease occurrence appear to exist. Males and females are equally affected. Proteus syndrome may not be suspected in many individuals until later infancy or early childhood, depending on the degree of overgrowth or rate of cutaneous lesion appearance. Associated Conditions (*) q Hemihyperplasia, asymmetric overgrowth of limbs or digits, and megalospondylodysplasia q Scoliosis with or without unusual habitus q Macrocephaly, macroglossia, and cranial or auditory canal hyperostosis

34. Proteus Syndrome - General Practice Notebook The term proteus syndrome is applied to an extremely variable condition involvingatypical growth of the skin, skull and bones associated with a variety http://www.gpnotebook.co.uk/cache/x20020727180402515320.htm

Proteus syndrome The term "Proteus Syndrome" is applied to an extremely variable condition involving atypical growth of the skin, skull and bones associated with a variety of other symptoms. It has been suggested that Joseph Merrick (known as the Elephant Man) had suffered from this condition rather than neurofibromatosis, as was initially suggested This condition was first identified by Michael Cohen, Jr., in 1979 and in 1983, a German pediatrician, Has Rudolf Wiedemann, named it Proteus Syndrome, after the Greek God Proteus "the polymorphous" because of the variable manifestations in the four unrelated boys first identified with the syndrome. The condition is extremely rare but there are over 50 reported cases worldwide. Cases have been isolated occurrences in families, suggesting that the condition is not genetic. It affects both sexes equally, and has no particular racial, geographical or ethnic distribution. Click here for more information...

35. Proteus Syndrome This is the home page of the proteus syndrome Foundation (PSF), a US basedorganisation dedicated to providing information and support for sufferers of http://omni.ac.uk/browse/mesh/D016715.html

low graphics Proteus Syndrome broader: Limb Deformities, Congenital Proteus Syndrome Foundation This is the home page of the Proteus Syndrome Foundation (PSF), a US based organisation dedicated to providing information and support for sufferers of Proteus Syndrome (sometimes known as Elephant Man Disease) and their carers and families, and to educate the health care profession about this rare disease. The site contains a brief description of the syndrome, a list of diagnostic criteria, newsletters, links and a medical bibliography. Proteus Syndrome Last modified: 09 Sep 2005

36. TheFetus.net - Proteus Syndrome -Submitted By Elke Sleurs, MD*&, Luc De Catte, M Comprehensive guide to prenatal ultrasound. Covers all aspects of sonography inpregnancy and the fetus. http://www.thefetus.net/page.php?id=436

37. Indian Pediatrics - Images In Clinical Practice proteus syndrome is a bizare clinical condition characterized by overgrowth The lesions in proteus syndrome tend to be progressive and minor variations http://www.indianpediatrics.net/june2001/june-677-678.htm

Home Past Issue About IP About IAP ... Subscription Images in Clinical Practice Indian Pediatrics 2001; 38: 677-678 Proteus Syndrome A term newborn was found to have a large lympho-hemangioma on the left side involving the chest and abdomen ( Fig.1 ). Multiple small nevi were seen over the hemangioma. This was associated with hyper-trophy on the left side. The baby’s left sole was bigger than the right sole ( Fig. 2 ). Width of left and right sole at level of head of metatarsals was 4.5 cm and 4.2 cm, respectively. The length of foot on the left and right was 9.3 cm and 8.2 cm, respectively. Thickening, excessive wrinkling and furrow-ing of the skin was also seen on the left sole. Congenital dislocation of hip was present on the left side. Bilateral inguinal hernia was present. Ultrasonography of the head, chest and abdomen were normal. Skull X -rays and a skeletal survey did not reveal any abnormality. The initial platelet count was 70,000/mm3 but subsequent counts were normal. 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. It is a congenital hamartomatous disorder and hence is quite similar to other disorders of overgrowth. However, the salient clinical features of massive overgrowth, hamartomata, thickening of palms and soles and hemihypertrophy are usually present to enable a confident diagnosis.

38. Log In Problems In a prospective cohort study, numbers of cutaneous and extracutaneous findingswere correlated, consistent with the postulated mosaic basis for this http://www.medscape.com/viewarticle/487871

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39. Log In Problems In a prospective cohort study, numbers of cutaneous and extracutaneous findingswere correlated, consistent with the postulated mosaic basis for this http://www.medscape.com/viewarticle/487871_author

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40. Penn State Faculty Research Expertise Database (FRED) , Hamartoneoplastic malformation syndrome of uncertainetiology characterized by partial gigantism of the hands and/or feet,......proteus syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D016715

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