1. The Contact A Family Directory - PROTEUS SYNDROME A definition of proteus syndrome, its inheritance pattern, prenatal diagnosis and a support group.Category Health Conditions and Diseases proteus syndrome......printer friendly, proteus syndrome, The Network is in touch with over 30 families.Group details last updated April 2002. proteus syndrome FOUNDATION (UK). http://www.cafamily.org.uk/Direct/p50.html

printer friendly PROTEUS SYNDROME home more about us in your area conditions information ... how you can help search this site Proteus Syndrome is a rare disorder first identified in 1979 but with cases described in the literature since 1856. The clinical features of Proteus Syndrome are overgrowth/enlargement of soft tissue and bone which can affect any area of the body but often involving the hands and/or the feet, the skull and sometimes the whole of one side of the body (hemihypertrophy) and blood vessel (vascular) abnormalities. Superficial warty birthmarks (epidermal naevi), soft deeper (subcutaneous) lumps, thickening of the skin on the soles and bony problems, in particular, of the skull, hand/feet and curvature of the spine may also be present. The abnormalities seen in Proteus Syndrome are present at birth but may become more apparent and develop with age. The clinical features described may not all be present in any one affected individual and the severity can vary widely. The nature of the varied complications of the disorder depend on the site and severity of the problem. Medical care requires a multidisciplinary approach covering orthopaedic, dermatological, genetic, surgical, dental, ophthalmological, radiological and psychological management.

2. Welcome To The Proteus Syndrome Foundation Home Page Support and education for families and professionals. Includes abstracts, brochures, glossary, links Category Health Conditions and Diseases proteus syndrome......The proteus syndrome Foundation supports and educates families and professionals,and raises money for research to find a cure for individuals living with http://www.proteus-syndrome.org/

Welcome to the Proteus Syndrome Foundation Home Page Run or walk in the Alex Hoag Run for Sunshine 5K July 19 Family Conference 2002 We are in the process of planning a family conference for October 2002. PSF Families and Doctors on our mailing list will receive more information in the mail. Hope to see you there! We are a 501C3 not-for-profit organization. The Proteus Syndrome Foundation 6235 Whetstone Dr. Colorado Springs, CO 80918 proteusorg@aol.com In Loving Memory of Alexander Hoag "He did a lot in 9 short years." Home What is Proteus Syn drome? ... Donate This Site was updated by McCaskey Advertising Concepts

3. Proteus Syndrome Image that's a link to Genetics Education Center Support Page ProteusSyndrome. proteus syndrome. proteus syndrome Support Group 609 E Mt. http://www.kumc.edu/gec/support/proteus.html

Proteus Syndrome Proteus Syndrome Foudation 6235 Whetstone Dr. Colorado Springs, CO., 80918 Phone: (719) 264-8445 Contact: Kim Hoag E-mail: abscit@aol.com Web Page: http://www.proteus-syndrome.org/ Patient Brochure Terms and Definitions associated with Proteus Syndrome compiled by Susan Beachler Newsletter - Spring 1997 Newsletter - Fall 1997 Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members Proteus Syndrome information from The National Organization for Rare Disorders (NORD) National organizations information on genetic conditions/birth defects variety of resources Limb anomalies web page , resources for different size shoe and glove exchange, etc. Proteus information, Online Mendelian Proteus Syndrome Proteus Syndrome Support Group 609 E Mt. Vernon Blue Springs, MO 64014 Phone: (816) 229-9132 Contact: Kim Hoag E-mail: abscit@aol.com Web Page: http://www.proteus-syndrome.org/ Patient Brochure Terms and Definitions associated with Proteus Syndrome compiled by Susan Beachler Newsletter - Spring 1997 Newsletter - Fall 1997 Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members Proteus Syndrome information from The National Organization for Rare Disorders (NORD) National organizations information on genetic conditions/birth defects variety of resources Limb anomalies web page , resources for different size shoe and glove exchange, etc.

4. Proteus' Syndrome (www.whonamedit.com) proteus syndrome. Radiology Cases in Pediatric Emergency Medicine http://www.whonamedit.com/synd.cfm/997.html

Home List categories Eponyms A-Z Biographies by country ... Contact Proteus' syndrome Also known as: Wiedemann's syndrome Synonyms: Proteiform syndrome. Associated persons: Proteus Proteus Hans-Rudolf Wiedemann Description: A congenital syndrome characterised by a variety of abnormalities, most commonly by asymmetry of the arms and legs with partial enlargement of the hands and/or feet, hemihypertrophy - overgrowth of one side of the face, body, or limbs - thickening of the skin and subcutaneous tissues, subcutaneous masses, vascular disorders, epidermal naevi, and macrodactyly; accelerated growth during early years, cystiform pulmonary abnormalities, visceral manifestations from abdominal and pelvic lipomatosis, macrocephaly or asymmetry of the skull with bony prominences due to hemihypertrophy, scoliosis and kyphosis, muscle atrophy, and convulsions. Aetiology unknown. Reported cases have been isolated occurrences in families, suggesting that the condition is not hereditary. It affects both sexes equally, and has no particular racial, geographical or ethnic distribution. It has been suggested that Proteus Syndrome is the condition that Joseph Merrick (known as the Elephant Man) had, rather than neurofibromatosis, as was initially suggested.

5. NORD - Proteus Syndrome Offers synonyms, a general discussion and further resources. http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

6. Proteus Syndrome Newsletter Vol.1, No.2 Fall 1997. THE proteus syndrome FOUNDATION NEWSLETTER. 609 SE Mt. A NotFor-ProfitOrganization proteus syndrome FOUNDATION. WHAT IS proteus syndrome? http://www.kumc.edu/gec/support/newslet2.html

An online version of the Newsletter Publication from The Proteus Syndrome Foundation, Inc. Vol.1, No.2 Fall 1997 THE PROTEUS SYNDROME FOUNDATION NEWSLETTER 609 S.E. Mt. Vernon Dr. Blue Springs, Mo. 64014 E-mail: abscit@aol.com /gec/support/proteus.html A Not-For-Profit Organization PROTEUS SYNDROME FOUNDATION WHAT IS PROTEUS SYNDROME? Proteus Syndrome is a condition which involves atypical growth of the bones, skin, head and a variety of other symptoms. This condition was first identified by Michael Cohen Jr., DMD, PhD, in 1979. In 1983, a German pediatrician, Has Rudolf Wiedemann, named it Proteus syndrome, for the Greek God Proteus "the polymorphous" presumably because of the variable manifestations in the four unrelated boys first identified with the syndrome. At this time there are approximately 120 documented cases worldwide. However, not all cases of Proteus syndrome are documented cases, therefore it is unknown how many individuals have this syndrome. It has been suggested that Proteus syndrome is the condition that Joseph Merrick (known as the Elephant Man ) had, rather than neurofibromatosis as was initially suggested. OUR MISSION STATEMENT The Proteus Syndrome Foundation has been founded to educate, support, and raise money for grants and research toward finding a cure for individuals living with Proteus syndrome.

7. The Elephant Man's Mistaken Identity Article showing that Merrick, diagnosed during his life as suffering from Neurofibromatosis, actually suffered from proteus syndrome. http://www.parascope.com/articles/0397/elephant.htm

8. Proteus Syndrome The clinical features of proteus syndrome are overgrowth/enlargement of soft tissue and bone which can affect any area http://www.kumc.edu/gec/support/protwww.html

Proteus Syndrome Patient Brochure What you need to know about Proteus Syndrome Proteus Syndrome Foundation 609 East Mount Vernon Drive Blue Springs, MO 64014 e-mail: abscit@aol.com Web site: http://www.proteus-syndrome.org/ What is Proteus Syndrome? Proteus Syndrome is condition which involves atypical growth of the bones, skin, head, and a variety of other symptoms. This condition was first identified by Michael Cohen, Jr., DMD, Ph.D., in 1979. In 1983, a German pediatrician, Has Rudolf Wiedemann, named it Proteus Syndrome, for the Greek God Proteus "the polymorphous" presumably because of the variable manifestations in the four unrelated boys first identified with the syndrome. At this time, it is unknown how many individuals have Proteus Syndrome, since not all individuals are reported in the medical literature. However, there are over 50 reported cases worldwide. Reported cases have been isolated occurrences in families, suggesting that the condition is not hereditary. It affects both sexes equally, and has no particular racial, geographical or ethnic distribution. Proteus Syndrome is an extremely variable condition. The severity of the syndrome ranges from mild cases to severe. There is, as yet, no way to detect who will have a mild case and who will develop serious complications.

9. Rd.com: From Readers Digest Health some general information and alternate names as well as further resources. http://www.rd.com/common/nav/index.jhtml?articleId=8612563

10. DermIS / Main Menu / DOIA / Proteus Syndrome / Images proteus syndrome / images http://www.dermis.net/bilddb/diagnose/englisch/i009940.htm

HOME DOIA PeDOIA Skincancer ... DOIA Proteus Syndrome images images for the diagnosis 'Proteus Syndrome' sitesearch: DermIS - Dermatology Information System

11. EMedicine - Proteus Syndrome : Article By Beth A Pletcher, MD proteus syndrome proteus syndrome is a rare condition that can beloosely categorized as a hamartomatous disorder. proteus syndrome. http://www.emedicine.com/ped/topic1912.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Proteus Syndrome Last Updated: February 28, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: pleioproteus syndrome, elephant man disease, gigantism, limb overgrowth AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Beth A Pletcher, MD , Director of Neurofibromatosis Center, Assistant Professor, Department of Pediatrics, University of Medicine and Dentistry of New Jersey Beth A Pletcher, MD, is a member of the following medical societies: American Academy of Pediatrics , and American College of Medical Genetics Editor(s): Elaine H Zackai, MD , Director of Clinical Genetics Center, Professor of Pediatrics, Department of Pediatrics, Division of Human Genetics and Molecular Biology, University of Pennsylvania, Children's Hospital of Philadelphia; Robert Konop, PharmD

12. EMedicine - Proteus Syndrome : Article By Antonio Vozza, MD proteus syndrome proteus syndrome (PS) is a sporadically occurring hamartomatousdisorder with multifarious mesodermal malformations. proteus syndrome. http://www.emedicine.com/DERM/topic721.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Proteus Syndrome Last Updated: April 24, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: PS, hamartomatous disorder, multifarious mesodermal malformation, plurifocal overgrowth, partial gigantism, regional gigantism AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Antonio Vozza, MD , Associate Chairman, Assistant Professor, Department of Dermatology, Second University of Naples, Italy Coauthor(s): Carlo Tolone, MD , Department of Pediatrics, Second University of Naples; Eleonora Ruocco, MD , Staff Physician, Assistant Professor, Department of Dermatology and Venereology, University of Naples Medical School Editor(s): Albert C Yan, MD , Assistant Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania; David F Butler, MD

13. Proteus Syndrome The First National Conference on proteus syndrome found the most important diagnosticcriteria include Mosaic distribution of lesions Progressive course 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

14. Proteus Syndrome HOME proteus syndrome (Wiedemann's Syndrome; Elephant Man Disease; Partial Gigantismof Hands and Feet with Nevi, Hemihypertrophy, and Macrocephaly). http://www.bdid.com/proteus.htm

HOME Proteus Syndrome (Wiedemann's Syndrome; Elephant Man Disease; Partial Gigantism of Hands and Feet with Nevi, Hemihypertrophy, and Macrocephaly) Diagnosis and Discussion: Proteus Syndrome PDF file of diagnosis PROTEUS SYNDROME Simple Definition ... HOME

15. The Family Village / Library / Proteus Syndrome Library O P. proteus syndrome. Who to Contact. proteus syndrome Support Group609 E Mt Vernon Blue Springs, MO 64014 (816) 229-9132 E-mail abscit@aol.com. 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 AltaVista for "Proteus Syndrome" Who to Contact Proteus Syndrome Support Group 609 E Mt Vernon Blue Springs, MO 64014 E-mail: abscit@aol.com The Proteus Syndrome Foundation is a not-for- profit voluntary organization. They provide information packets to new families and health professionals. They are planning a national meeting for families and professionals. Contact them for further information. Where to Go to Chat with Others We are unaware of any discussion forums specifically for this diagnosis. However, there are several forums that may be of interest to parents of children with disabilities or special health care needs regardless of diagnosis. See General Disability On-Line Discussion Groups Learn More About It Terms and definitions often associated with Proteus Syndrome Proteus Syndrome information from OMIM The Proteus Syndrome Foundation Newsletter Web Sites Proteus Syndrome Foundation Proteus Family Network - UK Back to [ O - P Family Village Home Library Coffee Shop ... Information Last Updated 10-September-1999 by rowley@waisman.wisc.edu

16. Proteus Syndrome proteus syndrome Guide picks. A very rare UK. Dermatology Online AtlasPhotographs of a case of proteus syndrome. Diagnostic Radiology http://rarediseases.about.com/cs/proteussyndrome/

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement 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. 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.). Proteus Syndrome Foundation (U.S.)

17. The Elephant Man's Bones Reveal Mystery Dr. Sharma determined that Merrick had proteus syndrome, an extremelyrare disorder, itself only identified in 1979. proteus syndrome http://rarediseases.about.com/library/weekly/aa031301a.htm

zfp=-1 About Rare/Orphan Diseases Search in this topic on About on the Web in Products Web Hosting Rare/Orphan Diseases with Mary Kugler Your Guide to one of hundreds of sites Home Articles Forums ... Help zmhp('style="color:#fff"') Subjects BUYER'S GUIDE Before You Buy Top Picks Sites for Online Specialty Shopping ... All articles on this topic Stay up-to-date! Subscribe to our newsletter. Advertising Free Credit Report Free Psychics Advertisement The Elephant Man's Bones Reveal Mystery He stumped physicians for 100 years By Mary Kugler, BSN, RN,C About.com Guide to Rare/Orphan Diseases Joseph's story When he was two years old, his mother noticed that some areas of his skin began to change. Some darkened, discolored skin growths were appearing, and they began to look bumpy and rough. Lumps began to grow under the boy's skinon his neck, his chest, and the back of his head. Mary Jane Merrick began to worry about her son, Joseph. The other boys were starting to make fun of him. As Joseph grew older, he began to look even more strange. The right side of his head began to grow, as did his right arm and hand. By the time he was 12 years old, Joseph's hand was so deformed as to be useless. The growths on his skin were now large and repulsive to look at. Related Resources Internet links on Proteus syndrome Internet links on neurofibromatosis Elsewhere on the Web The Elephant Man's Underlying Condition Who Was the Elephant Man?

18. Radiology In Ped Emerg Med, Vol 7, Case 4 proteus syndrome Radiology Cases in Pediatric Emergency Medicine Volume 7, Case4 Craig T. Nakamura, MD Kapiolani Medical Center For Women And Children 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.

19. Proteus Syndrome: Diagnostic Criteria, Differential Diagnosis, And Patient Evalu proteus syndrome Diagnostic Criteria, Differential Diagnosis, and PatientEvaluation cosponsored by the Office of Rare Diseases at NIH. http://rarediseases.info.nih.gov/news-reports/workshops/proteus980319.html

National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Proteus Syndrome: Diagnostic Criteria, Differential Diagnosis, and Patient Evaluation Table of Contents Executive Summary Agenda Executive Summary American Journal of Medical Genetics 84:389-395 (1999) Proteus Syndrome: Diagnostic Criteria, Differential Diagnosis, and Patient Evaluation Leslie G. Biesecker, Rudolf Happle, John B. Mulliken, Rosanna Weksberg, John M. Graham, Jr., Denis L. Viljoen, and M. Michael Cohen, Jr., Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland Department of Dermatology, University of Marburg, Marburg, Germany Division of Plastic Surgery, Children's Hospital, Boston, Massachusetts Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, SHARE's Child Disability Center, University Affiliated Program, International Skeletal Dysplasia Registry, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, California Department of Human Genetics, Medical School, University of Cape Town, Cape Town, South Africa

20. Zoinkpanooley; Proteus Syndrome proteus syndrome, Sorry for the inconvience,this page is current;y under construction. http://www.geocities.com/Tokyo/Pagoda/4224/proteus.html

Proteus Syndrome 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;

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