41. Genome.gov | Biesecker Lab A good example of this is proteus syndrome, a rare but severe type of segmental It is believed that the many manifestations of proteus syndrome—lipomas, http://www.genome.gov/10000356

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... Research Investigators Profiles, publications, links Clinical Research Clinical trials, patient recruitment, IRB FAQ , Overview NHGRI Affiliated Centers CIDR NCGC NISC Online Research Resources Developed at NHGRI Databases, software, tools, more. Division of Intramural Research Calendar Workshops, conferences, seminar series, courses, more. Books and Publications In Other Sections: Administrative Management Branch Intramural Training Office Office of Laboratory Animal Medicine Professional Development Office ... Genetic Disease Research Branch Biesecker Lab Leslie G. Biesecker, M.D. Senior Investigator Genetic Disease Research Branch Head Human Development Section B.S. University of California, Riverside, 1979 M.D. University of Illinois College of Medicine, 1983 lesb@nhgri.nih.gov Building 49, Room 4A80 49 Convent Drive, MSC 4472

42. Genome.gov | Current NHGRI Clinical Studies Growth Disorder, Study of proteus syndrome and Related Congenital Disorders, Yes.Hamartoma, Phenotype and Etiology of PallisterHall Syndrome, Yes http://www.genome.gov/10004414

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... Clinical Research Current NHGRI Clinical Studies Current NHGRI Clinical Studies Clinical studies give us a better understanding of how genes can cause or influence diseases. NHGRI researchers are working with patients, and with families with a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to develop new and more effective tests and treatments. Deciding whether to participate in a clinical study is an important and personal process. Some reasons people choose to participate include: Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more effective treatments, and better ways of managing diseases with genetic components. Participants in studies are actively involved in understanding their disorder and current research. Participants in some studies gain access to new tests and treatments before they are widely available. The following are current clinical studies conducted by NHGRI researchers. For eligibility requirements and contact information, visit the study on clinicaltrials.gov.

43. Arch Dermatol -- The Manifold Faces Of Proteus Syndrome, August 2004, Happle 140 Cutaneous Manifestations of proteus syndrome Correlations With General ClinicalSeverity Diem Nguyen, Joyce T. Turner, Cara Olsen, Leslie G. Biesecker, http://archderm.ama-assn.org/cgi/content/extract/140/8/1001

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 140 No. 8, August 2004 Featured Link E-mail Alerts Editorial Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Happle R Contact me when this article is cited Topic Collections Rheumatology Musculoskeletal Syndromes (Chronic Fatigue, Gulf War) Dermatologic Disorders, Other Topic Collection Alerts The Manifold Faces of Proteus Syndrome Arch Dermatol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. In this issue of the ARCHIVES, Nguyen and colleagues present a clinically oriented study of 24 consecutive patients with Proteus syndrome who were evaluated at the National Institutes of Health in Bethesda, Md.

44. Arch Dermatol -- Abstract: Cutaneous Manifestations Of Proteus Syndrome: Correla Background proteus syndrome is a rare congenital disorder with progressive asymetric The Manifold Faces of proteus syndrome Rudolf Happle Arch Dermatol. http://archderm.ama-assn.org/cgi/content/abstract/140/8/947

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 140 No. 8, August 2004 Featured Link E-mail Alerts Study Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Nguyen D Darling TN Articles that cite this article ISI Web of Science (3) ... Contact me when this article is cited Topic Collections Rheumatology Musculoskeletal Syndromes (Chronic Fatigue, Gulf War) Dermatologic Disorders, Other Topic Collection Alerts Cutaneous Manifestations of Proteus Syndrome Correlations With General Clinical Severity Diem Nguyen, MD Joyce T. Turner, MS, CGC Cara Olsen, MS Leslie G. Biesecker, MD Thomas N. Darling, MD, PhD Arch Dermatol. Proteus syndrome is a rare congenital disorder with progressive asymetric overgrowth of multiple tissues.

45. DermIS / Main Menu / DOIA / Proteus Syndrome / Images proteus syndrome / images. proteus syndrome / images, deutsch english español portugues français images for the diagnosis proteus syndrome http://www.dermis.net/doia/diagnose.asp?zugr=d&lang=e&diagnr=9940&topic=t

46. DermIS / Main Menu / DOIA / Proteus Syndrome / Info proteus syndrome / info. information on the diagnosis proteus syndrome If you are a patient with proteus syndrome , please complete our http://www.dermis.net/doia/diagnose.asp?zugr=d&lang=e&diagnr=9940&topic=i

47. Article : Proteus Syndrome With Recurrent Clavicular Fractures ; Author : V Rath The proteus syndrome is a very rare hamartomatous disorder whose etiology isunknown. Before 1983, proteus syndrome was confused with other congenital http://www.ijri.org/articles/ARCHIVES/2003-13-3/mus285.htm

Musculoskeletal Proteus Syndrome With Recurrent Clavicular Fractures V Rathi, SK Bhargava, A Arora, S Jain Ind J Radiol Imag 2003 13:3:285-290 Key words: Proteus Syndrome, fracture, clavicle. INTRODUCTION: Proteus Syndrome (PS) is a rare complex hamartomatous disorder of unknown etiology with characteristic clinical and radiological findings. It was first recognized as a distinct entity in 1979 and was named in 1983 by Wiedemann and colleagues. It is named after the Greek sea god "Proteus" who could change appearance at will to avoid his enemies. "Proteus" reflects the polymorphous clinical expression of this syndrome. Proteus Syndrome consists of an unusual constellation of abnormalities leading to grotesque overgrowth and facial disfigurement. It is characterized by partial gigantism of hands and/feet, asymmetry of limbs, cranial hyperostoses, macrocrania, verrucous epidermal nevi with variable distribution, subcutaneous hamartomatous tumors, varicosities, cystiform pulmonary abnormalities and distinctive plantar cerebriform hyperplasia [1-6]. It can affect any tissue or structure of the body. New findings are constantly being reported in Proteus Syndrome [7]. Fractures have rarely been reported in the medical literature on Proteus Syndrome [8] and our patient is the second such case in world literature.

48. Proteus Syndrome - HUM-MOLGEN Author, Topic proteus syndrome. axacosta Member, posted 0405-2001 0736 PMClick Here to See the Profile for axacosta Click Here to Email axacosta http://hum-molgen.org/bb/Forum2/HTML/000072.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Proteus syndrome profile register preferences faq ... next oldest topic Author Topic: Proteus syndrome axacosta Member posted 04-05-2001 07:36 PM I would like to know if there is any place studying the molecular basis of this syndrome. The genetics service where I work has received 6 cases in the last 2 years and we are interested to study more these cases. IP: 200.128.25.197 leslieb Member posted 04-18-2001 10:07 PM we are studying this condition. please contact me for details. IP: 165.112.60.10 mvanstee unregistered posted 07-02-2001 02:40 PM We have a number of cases and access to several more. If you wish we may be able to help you project. Please contact me. IP: 131.174.198.49 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications

49. WebMD With AOL Health - Proteus Syndrome International network. Founded 1991. Provides education and support for familiesor children with Proteus http://aolsvc.health.webmd.aol.com/hw/raising_a_family/shc29prt.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Friday, September 09, 2005 WebMD Main Condition Centers Medical Library Health Tools ... Proteus Syndrome Foundation Proteus Syndrome Proteus Syndrome Foundation International network. Founded 1991. Provides education and support for families or children with Proteus syndrome. Supports research into cause and cure of this disorder. Newsletter, pen pals, literature, and database of families. Fundraising. WRITE: Proteus Syndrome Fdn. 4915 Dry Stone Dr. Colorado Springs, CO 80918 CALL: 719-264-8445 Kim Hoag day 901-756-9375 Barbara King day E-MAIL: kimkhoag@aol.com jakebabs@aol.com WEBSITE: http://www.proteus-syndrome.org VERIFIED: 5/28/2004 The above information was "verified" as correct on the date at the end of each entry. Since American Self-Help Group Clearinghouse's database is extensive but staffing is limited and information for these organizations can change, it is not possible to keep every entry in American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information on self-help groups, please visit the American Self-Help Group Clearinghouse web site at http://www.mentalhelp.net/selfhelp

50. Radiology In Ped Emerg Med, Vol 7, Case 4 Discussion The name, proteus syndrome, was coined by Wiedemann in 1983 after the The most famous patient afflicted with proteus syndrome was Joseph http://www.hawaii.edu/medicine/pediatrics/pemxray/v7c04.html

Proteus Syndrome Radiology Cases in Pediatric Emergency Medicine Volume 7, Case 4 Craig T. Nakamura, MD Kapiolani Medical Center For Women And Children University of Hawaii John A. Burns School of Medicine <5th percentile). Height 164 cm (70%ile). She is a thin, well developed alert female in no distress. Skin: No rashes, lesions, thickened skin, or varicosities. Head: Normocephalic. EENT: Normal. Neck: No elongation or adenopathy. Chest: Symmetrical with normal anteroposterior diameter. No retractions. No scoliosis or kyphosis noted. Mild pectus excavatum is present. No tympany to percussion. A surgical scar is noted. Lungs: Mildly decreased breath sounds. No rhonchi, rales, or wheeze. No prolongation of the expiratory phase. Heart: Regular rate and rhythm. No murmur. Normal S2. No gallop. Abdomen: Benign. No organomegaly. Extremities: Enlarged left hand with long fingers. There is also joint enlargement involving her left hand. No other hemihypertrophy noted. Arterial blood gas: pH 7.39, pCO2 40, pO2 55, bicarbonate 24. Review her radiographs: Review her CXR at an early age. Review a later CXR.

51. Radiologic Manifestations Of Proteus Syndrome -- Jamis-Dow Et Al. 24 (4): 1051 - proteus syndrome is a sporadic disorder named for its highly variable The features of proteus syndrome indicate that the condition may be caused by a http://radiographics.rsnajnls.org/cgi/content/abstract/24/4/1051

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: DOI: 10.1148/rg.244035726 This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Jamis-Dow, C. A. Articles by Choyke, P. L. Related Collections General Musculoskeletal Radiology Pediatric Radiology RadioGraphics 2004; RSNA EDUCATION EXHIBIT Radiologic Manifestations of Proteus Syndrome Carlos A. Jamis-Dow, MD Joyce Turner, MS Leslie G. Biesecker, MD and Peter L. Choyke, MD From the Department of Radiology, Georgetown University Hospital, Washington, DC (C.A.J.D.); Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md (J.T., L.G.B.); and Department of Radiology, Clinical Center, National Institutes of Health, Bldg 10, Room 1C-660, MSC 1182, Bethesda, MD 20892 (P.L.C.). Received October 7, 2003; revision requested November 17; revision received March 2, 2004 and accepted March 9. Address correspondence to P.L.C. (e-mail:

52. Radiologic Manifestations Of Proteus Syndrome -- Jamis-Dow Et Al. 24 (4): 1051 - Radiologic Manifestations of proteus syndrome1. Carlos A. JamisDow, MD , JoyceTurner, MS , Leslie G. Biesecker, MD and Peter L. Choyke, MD http://radiographics.rsnajnls.org/cgi/content/figsonly/24/4/1051

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: DOI: 10.1148/rg.244035726 This Article Abstract Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Jamis-Dow, C. A. Articles by Choyke, P. L. Related Collections General Musculoskeletal Radiology Pediatric Radiology Radiologic Manifestations of Proteus Syndrome Carlos A. Jamis-Dow, MD Joyce Turner, MS Leslie G. Biesecker, MD and Peter L. Choyke, MD From the Department of Radiology, Georgetown University Hospital, Washington, DC (C.A.J.D.); Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Md (J.T., L.G.B.); and Department of Radiology, Clinical Center, National Institutes of Health, Bldg 10, Room 1C-660, MSC 1182, Bethesda, MD 20892 (P.L.C.). Received October 7, 2003; revision requested November 17; revision received March 2, 2004 and accepted March 9. Address correspondence to P.L.C. (e-mail:

53. Proteus Syndrome Information Diseases Database proteus syndrome,Encephalocraniocutaneous lipomatosis,Fishman syndrome, DiseaseDatabase Information. http://www.diseasesdatabase.com/ddb30070.htm

Diseases Database Index Sponsors Contact ... Previous Page Proteus syndrome information Search 3 synonyms or equivalents were found. Proteus syndrome aka/or Encephalocraniocutaneous lipomatosis aka/or Fishman syndrome may cause or feature (Follow link for list.) may be allelic with (Follow link for list.) belong(s) to the category of (Follow link for list.) Proteus syndrome: Definition(s) via UMLS Code translations and terms via UMLS Proteus syndrome: specific web sites Send Proteus syndrome to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation Valid XHTML 1.0 Served 2005-09-09 16:44:20 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

54. The Proteus Syndrome. Alavi S, Chakrapani A, Kher A, Bharucha BA J Postgrad Med J Postgrad Med, Online version this peerreviewed periodical, a publication ofthe Staff Society of Seth GS Medical College and KEM Hospital, India, http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1993;volume=39;issue=4

55. The Proteus Syndrome.,Alavi S, Chakrapani A, Kher A, Bharucha BA: J Postgrad Med Indexed peerreviewed biomedical periodical of Staff Society of Seth GS MedicalCollege and KEM Hospital, India, with free access to full-text since 1990. http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1993;volume=39;issue=4

56. Proteus Syndrome Topic - Unified Search Environment a disorder with similar characteristics. Synonyms and Source Vocabulariesproteus syndrome MSH/MH/D016715 Elephant Man Disease MSH/EP/D016715 http://www.use.hcn.com.au/portals/shared/subject.`Proteus Syndrome`/home.html

Proteus Syndrome Topic Tree Definition: 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. Synonyms and Source Vocabularies: Proteus Syndrome Elephant Man Disease Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Basal Cell Nevus Syndrome Beckwith-Wiedemann Syndrome Bloom Syndrome Cockayne Syndrome ... Congenital neurologic anomalies

57. Proteus Syndrome,Macrocephaly Hemihypertrophy,Partial Gigantism Of proteus syndrome,Macrocephaly Hemihypertrophy,Partial Gigantism of Hands andFeet Nevi-Hemihypertrophy-Macrocephaly,proteus syndrome,Macrocephaly http://www.icomm.ca/geneinfo/proteus.htm

58. Proteus Syndrome - Wikipedia, The Free Encyclopedia Unilateral proteus syndrome Sarma Nilendu, Malakar Subrata, Lahiri proteus syndrome is a complex developmental abnormality. Diagnosis of Proteussyndrome by scoring specific features had been proposed by Hotamisligil in http://en.wikipedia.org/wiki/Proteus_syndrome

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Proteus syndrome From Wikipedia, the free encyclopedia. Proteus Syndrome (PS) is a congenital disorder that causes skin overgrowth, atypical bone development, and tumour appearance over half the body. Proteus Syndrome is extremely rare. Since Dr. Michael Cohen identified it in , only a few more than 100 cases have been confirmed worldwide. 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. 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.

59. Unilateral Generalized Hypertrichosis In Proteus Syndrome Asokan N, Abdul Lathee The association of proteus syndrome and unilateral generalized hypertrichosis proteus syndrome is a congenital hamartomatous syndrome characterised by a http://www.ijdvl.com/article.asp?issn=0378-6323;year=2002;volume=68;issue=5;spag

60. HighWire -- Browse Journals - Proteus Syndrome Browse Journals publishing on proteus syndrome, (return to Topic List page) Journals focusing on proteus syndrome (in order by highest focus) http://highwire.stanford.edu/lists/topic_dir/608683/618131/623059/623939/623940/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Proteus Syndrome: (return to Topic List page) Proteus Syndrome Sort by: Alphabet Frequency of articles in Proteus Syndrome Focus of journal on Proteus Syndrome What's this? Journals focusing on Proteus Syndrome (in order by highest focus) Journal of the History of Medicine and Allied Sciences info Academic Medicine info ... Multiple Primary Neoplasms Proteus Syndrome Home Adv. Search For Institutions For Publishers ... partners/suppliers

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