81. Clinical Neurogenetics, Wake Forest Links to information on neurogenetic diseases treated by neurosurgeons neurofibromatosis, Tuberous Sclerosis, and von HippelLindau Disease. neurofibromatosis. http://www.wfubmc.edu/surg-sci/ns/ngenet.html

Clinical Neurogenetics Department of Neurosurgery Wake Forest University School of Medicine Links to information on neurogenetic diseases treated by neurosurgeons: Neurofibromatosis, Tuberous Sclerosis, and von Hippel-Lindau Disease. Links to more information on neurofibromatosis (NF-1 and NF-2) Links to more information on tuberous sclerosis Links to more information on Von Hippel-Lindau disease Von Hippel-Lindau Disease and Hemangioblastoma Von Hippel-Lindau Disease Family Alliance Homepage VHL Family Alliance Handbook: What you Need to Know about VHL VHL Family Alliance via email More information about VHL What is Von Hippel-Lindau Disease? An International Listing of VHL Support Organizations Information in French Information in Spanish Information in German The Danish VHL Association Danish and English von Hippel-Lindau Disease from the National Institute of Neurological Disorders and Stroke (USA) What is von Hippel-Lindau Disease? Is there any treatment? What is the prognosis? What research is being done? ... Stereotactic Radiosurgery for Hemangioblastomas of the Brain. Ajay Jawahar, M.S., Douglas Kondziolka, M.D., Yolanda I. Garces, M.D., John C. Flickinger, M.D., Bruce E. Pollock, M.D., and L. Dade Lunsford, M.D. UPMC Presbyterian, Pittsburgh, PA. National Cancer Institute Kidney Cancer Web Page Galaxy.Net's

82. Neurofibromatosis neurofibromatosis von Recklinghausen Disease. Page, Dermatology Index. http://www.fpnotebook.com/NEU44.htm

Home About Links Index ... Editor's Choice document.write(code); Advertisement Neurology Dermatology Assorted Pages Neurocutaneous Syndrome Neurofibromatosis Cafe-Au-Lait Macule Neurofibromatosis von Recklinghausen Disease Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Neurology Index Autonomic Cerebellum Chorea Cranial Nerve Cognitive CSF Cardiovascular Medicine Demyelinating Dermatology Disability Examination Ophthalmology Geriatric Medicine Gynecology Headache Infectious Disease Laboratory General Level of Consciousness Motor Obstetrics Pediatrics Pharmacology Procedure Psychiatry Radiology Seizure Sensory Sports Medicine Surgery Tremor Page Dermatology Index Neurocutaneous Neurocutaneous Neurofibromatosis Neurocutaneous Neurofibromatosis Cafe Epidemiology Autosomal dominant Chromosome region 17q11.2

83. Neurofibromatosis Clinic UPMC Physician Referral. neurofibromatosis Clinic. General Information Staff. What Is neurofibromatosis? How Is the Diagnosis of neurofibromatosis Made? http://www.upmc.edu/Neurofibro/

Neurofibromatosis Clinic General Information Staff What Is Neurofibromatosis? How Is the Diagnosis of Neurofibromatosis Made? ... Info for Staff © 2001 UPMC Health System

84. Kprones NF1ID10006 neurofibromatosis type 1 (NF1). Identity. Other names, Von Recklinghausen neurofibromatosis. - Peripheral neurofibromatosis. http://www.infobiogen.fr/services/chromcancer/Kprones/NF1ID10006.html

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours ... NA Neurofibromatosis type 1 (NF1) Identity Other names - Von Recklinghausen neurofibromatosis - Peripheral neurofibromatosis Inheritance autosomal dominant with almost complete penetrance; frequency is 30/10 newborns (and 1 of 200 mentally handicapped persons): one of the most frequent genetically inheritable disease; neomutation in 50%, mostly from the paternal allele; highly variable expressivity, from very mild to very severe; more severe when maternally inherited; expressivity is also age-related Clinics Note NF1 is an hamartoneoplastic syndrome; hamartomas are localized tissue proliferations with faulty differenciation and mixture of component tissues; they are heritable malformations that have a potential towards neoplasia; the embryonic origin of dysgenetic tissues involved in NF1 is ectoblastic. Phenotype and clinics diagnosis is made on the ground of at least 2 of the following: cafÈ-au-lait spots (n Ñ 6; of Ñ 0. 5 cm of diameter (in pre-puberty)) 2 neurofibromas or 1 plexiform neurofibromas (mainly cutaneous) 2 Lisch nodules (melanocytic hamartomas of the iris) freckling in the axillary/inguinal region (Crowe's sign) glioma of the optic nerve distintive bone anomalies (scoliosis, pseudoarthroses, bony defects (orbital wall) ...)

85. HuGE Review - NF1 Gene And Neurofibromatosis Type 1 PMID 10625171; UI 20088509. NF1 Gene and neurofibromatosis Type 1. HuGE Review NF1 Gene and neurofibromatosis Type 1. At-A-Glance. http://www.cdc.gov/genomics/hugenet/reviews/NF1gene.htm

Your browser does not support script HuGE Review Home About HuGE What's New? Pub Lit Database ... CDC Genomics This HuGE Review was published in the American Journal of Epidemiology 2000 Jan 1;151(1):33-40. PMID: 10625171; UI: 20088509. NF1 Gene and Neurofibromatosis Type 1 by Sonja A. Rasmussen and J.M. Friedman (1)Centers for Disease Control and Prevention, Division of Birth Defects and Pediatric Genetics, Atlanta, GA (2)Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada Updated August 31, 1999 HuGE Review At-A-Glance Gene Gene Variants Diseases ... Medical Literature Search HuGE Review - NF1 Gene and Neurofibromatosis Type 1 At-A-Glance Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. The protein product, neurofibromin, has tumor suppressor activity and probably other functions as well. A wide variety of NF1 mutations have been found in patients with NF1. No frequently recurring mutation has been identified. No information is available currently on the distribution of NF1 mutations in different populations. Average life expectancy of patients with NF1 is probably reduced by at least 10 to 15 years. Malignancy is the most common cause of death, but hypertension appears to be significantly associated with mortality. Primary prevention of NF1 complications is not currently possible.

86. NF1 Gene And Neurofibromatosis 1 - Birth Defects, NCBDDD, CDC NF1 Gene and neurofibromatosis 1. CDC scientists reviewed populationbased epidemiologic information on the NF1 gene and neurofibromatosis 1. http://www.cdc.gov/node.do/id/0900f3ec80007069

NCBDDD Home Esta página en Español Birth Defects Folic Acid Campaign ... Contact Us Thank you for visiting the CDC-NCBDDD Web site. In order to contact the National Center on Birth Defects and Developmental Disabilities, please click here Key Findings from Recent Birth Defects and Pediatric Genetics Branch Projects Return to Key Findings NF1 Gene and Neurofibromatosis 1 CDC scientists reviewed population-based epidemiologic information on the gene and neurofibromatosis 1. Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is caused by mutations of the gene, which is located at chromosome 17q11.2. A wide variety of mutations have been found in patients with NF1. No frequently recurring mutation has been identified. Diagnosis of NF1 is based on established clinical criteria. Average life expectancy of patients with NF1 is probably reduced by at least 10 to 15 years, with malignancy as the most common cause of death. Substantial variability in expression of NF1 features occurs, even in affected members of a single family.

87. MoSt GeNe/Genetic Drift/Management Of Common Genetic Disorders 16 Summer, 1998. neurofibromatosis 1 (von Recklinghausen disease). Introduction Health Supervision for Children with neurofibromatosis. Committee on Genetics. http://www.mostgene.org/gd/gdvol16f.htm

Previous Section This Issue- Table of Contents Next Section Management of Common Genetic Disorders Vol. 16: Summer, 1998 Neurofibromatosis 1 (von Recklinghausen disease) Introduction Neurofibromatosis 1 (NF1) is a progressive multisystem disorder which affects approximately 1 in 3,000 individuals. NF1 is an autosomal dominant disorder with a high degree of penetrance, widely variable clinical expression, and a high frequency of new mutations, with only half of patients having an affected parent. Affected individuals have a 50% risk of transmitting the disorder to their children. However, parents of a child with a new mutation are not at an increased risk to have another affected child. The gene for NF1 is located on the long arm of chromosome 17 at band q11.2. It codes for a protein, called neurofibromin, which is thought to be a tumor suppresser. A number of point mutations and gene deletions have been identified in affected individuals. Commercial DNA testing for NF1 is offered as a protein truncation test, which does not detect all mutations. Due to controversy regarding the application of this test, the current standard of diagnosis remains clinical. In familial cases, prenatal diagnosis using DNA linkage analysis may be available. Clinical Features The diagnosis of NF1 requires the presence of 2 or more of the National Institutes of Health criteria including: 6 or more cafe-au-lait spots of at least 5 mm. in diameter before puberty and 15 mm. in diameter after puberty;

88. Your Child | Neurofibromatosis neurofibromatosis (NF), also known as von Recklinghausen disease, is a common autosomal dominant disorder that can affect many organs in the body, especially http://www.med.umich.edu/1libr/yourchild/neurofib.htm

YOUR CHILD HOME Your Child Topics UMHS HOME Neurofibromatosis What is Neurofibromatosis? Neurofibromatosis (NF) , also known as von Recklinghausen disease , is a common autosomal dominant disorder that can affect many organs in the body, especially the skin and the nervous system .  Some of the features may be present at birth, but others do not appear for many years.  There are two distinct forms of Neurofibromatosis:  and What is Neurofibromatosis-1? Neurofibromatosis 1 (NF1) is the most common type of Neurofibromatosis, and it is seen in 1/4000 people.  It is characterized by multiple birthmarks as well as tumors in the nervous system and brain.  It is often inherited in an autosomal dominant fashion, however, in 50% of cases there is no family history and it is a result of a gene mutation , a new change not seen in other family members. What is Neurofibromatosis-2?

89. Pediatric Advisor 2003.2: Neurofibromatosis Index. neurofibromatosis. What is neurofibromatosis? neurofibromatosis Type 1 is also called generalized neurofibromatosis, or NF1 http://www.med.umich.edu/1libr/pa/pa_neurofib_hhg.htm

Pediatric Health Topics All Health Topics Mott Children's Hospital Pediatric Services ... Find a UMHS Doctor Search Pediatric Topics Search All Topics This information is approved and/or reviewed by U-M Health System providers but it is not a tool for self-diagnosis or a substitute for medical treatment. You should speak to your physician or make an appointment to be seen if you have questions or concerns about this information or your medical condition. Index Neurofibromatosis What is neurofibromatosis? Neurofibromatosis Type 1 is also called generalized neurofibromatosis, or NF-1. It is inherited (genetic) and is a chronic (ongoing) condition affecting about 1 in 4000 people. Nearly all children with NF-1 eventually have: Large brown skin spots called cafe-au-lait spots. Most people with NF-1 have 6 or more cafe-au-lait spots. Fewer than 6 spots is fairly common in people who do not have NF-1. Neurofibromas in the skin or elsewhere in the body. These are noncancerous tumors on nerves.

90. University Of Chicago Hospitals: Neurofibromatosis This information is for families who have recently been told that one member may have neurofibromatosis (NF). neurofibromatosis. http://www.uchospitals.edu/specialties/peds-neurology/neurofibromatosis/index.ph

@import "/css/style.css"; Home About the Hospitals Donate or Volunteer Contact Us NF Understanding NF How Do I Know if I, or My Child, Have Neurofibromatosis? NF-1 NF-2 ... Specialties Neurofibromatosis This information is for families who have recently been told that one member may have neurofibromatosis (NF). When you were first told about NF, you may only have heard the word neurofibromatosis and nothing else. As some of the initial shock wears off, you will want to know more about this disorder or group of disorders, because NF really is more than a single disorder. This information will explain what NF is, what causes NF, what your family will need to do about it, and who can help you. The University of Chicago Hospital Ambulatory Program for Neurofibromatosis is the largest NF program in the country and is a comprehensive clinic for children and adults. More Information Understanding NF How Do I Know if I, or My Child, Have Neurofibromatosis? NF-1 NF-2 ... Request an appointment online Or call 1-888-UCH-0200 Pediatric Neurology University of Chicago Children's Hospital James H. Tonsgard, MD

91. Neurofibromatosis neurofibromatosis,. Print this article, a group of heterogeneous conditions. According to the National Institutes of Health (NIH) only http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/NEUROFIBROMATOS

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Neurofibromatosis, a group of heterogeneous conditions. According to the National Institutes of Health (NIH) only two types of neurofibromatosis are defined: neurofibromatosis type 1 (NF1) also called von Recklinghausen's disease; and neurofibromatosis type 2 (NF2) or bilateral eighth nerve schwannomas syndrome. The definition of "peripheral" and "central" neurofibromatosis, referred in the past to NF1 and NF2, respectively, has now been abandoned since the two conditions often have central and peripheral manifestations together. Neurofibromatosis Type 1 (NF1) NF1 is an autosomal dominant disorder with high penetrance but variable expressivity. The gene responsible is on the long arm of chromosome 17 and normally acts as a tumour-suppressor oncogene. The lack of both copies of the gene induces the growth of a variety of neoplasms and non-neoplastic lesions. The major target organs are both peripheral (PNS) and central (CNS) nervous system and the skin, but virtually widespread multiple organ system involvement occurs. NF1 is far more common than NF2 and affects approximately 1 in every 2,0003,000 births. The diagnosis is based on physical examination, neuroimaging of the brain (and probably of the spine), slit-lamp examination of the eyes and genetic testing.

92. Neurofibromatosis neurofibromatosis,. Print this article, an autosomal dominant For a general description, see neurofibromatosis. Eight subtypes of http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/NEUROFIBROMATO

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Neurofibromatosis, an autosomal dominant disorder involving multiple systems, which is characterized by a clinical triad of cutaneous lesions, mental deficiency and skeletal deformities. For a general description, see neurofibromatosis Eight subtypes of the disease have been identified, although only two subtypes (neurofibromatosis-1 and neurofibromatosis-2) account for 99% of cases. Neurofibromatosis-1 is also known as von Recklinghausen's disease. Caf au lait spots and the lesions of molluscum fibrosum are common. Another typical manifestation is a lesion of the iris termed the Lisch nodule . These nodules may be neurofibromas arising from peripheral schwannian elements or melanocytic hamartomas of neural crest origin. Bone abnormalities involve the cranium, spine and other sites. Scoliosis (with or without kyphosis ) may lead to either an ordinary spinal curve or a dysplastic, sharply angulated, short segment kyphoscoliosis frequently involving fewer than six middle or lower thoracic vertebrae. Other spinal abnormalities include vertebral body wedging and scalloping, pedicle erosion, foraminal enlargement, and pencilling and spindling of transverse processes and ribs. In other sites, bowing and pathologic fracture of long bones occur. After fractures, bones often fail to reunite, ultimately resulting in

93. Neurofibromatosis, Disabled, Disability, Disabilities, Direct Patient Care On Th Nursing Consumer Healthcare Directories on The Nursefriendly Disabled, Disability, Disabilities, neurofibromatosis. neurofibromatosis The NF Website http://www.lopez1.com/lopez/directpatientcare/disabled.disability.disabilities/n

Disabled, Disability, Disabilities, Neurofibromatosis Neurofibromatosis ... The NF Website ... NF ... NF1 ... NF2... The neurofibromatoses (NF) are a set of genetic disorders which cause tumors to grow along various types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and... http://www.nf.org Vitality Medical Vitality Medical 10080 South Wasatch Blvd. Sandy, Utah 84092 http://www.nursefriendly.com/vitality/ Information on adding your web site to the Link Directory Add Your Website/URL Ask The Nurse Contact us ... Search Our Site, Or Search The Internet For: Canadian Pharmacies Health Insurance Legal Nurse Consultants Medical Equipment, Supplies, Durable Goods ... Workplace Violence See also: If you do any Browsing or Windowshopping online, please visit our online Mall http://www.nursefriendly.com/shopping/ RN-to-BSN Degree Program Online, No Classroom Attendance Required! http://www.nursefriendly.com/jacksonville/ ... 4nursinguniforms.com :"Choose from Top Nursing Uniform Companies. All sizes, styles and popular name brands available. Large selection of accessories as well: Accessories Blood Pressure Cuffs, Sphygnomanometers Nursing Tote Bags, Carry-Ons, Medical Bags Clinical, Medical Supplies, Nurses Discount Outlet: Angels, Books, Clothing , Equipment, Figurines, Holidays, Home Decor, Jewelry, Nurses, Office Decor, Scrubs, Shoes, T-Shirts Footwear, Shoes, Sandals, Discount, Bargains Gifts For Nurses (Nurses Week) Hosiery, Socks, Stockings Hats, Jackets, Jumpers Jewelry, Earrings, Necklaces, Watches Luxury Spas, Facials, Manicures, Pedicures Perfumes, Fragrances, Phermones Shoes, Boots, Sandals, Footwear, High Heels, Slippers Stethescopes, Nurse Kits, Replacement Parts Swimwear (Tan-Through) Women's Lingerie "

94. Neurofibromatosis, NF1, NF2, Support Translate this page A resource for those who have neurofibromatosis to communicate with each other using the internet. neurofibromatosis, NF1, NF2, Support. http://homepage.sunrise.ch/homepage/burch/

Main Topics: NF - Email - USA NF - Email - Rest of the World Kids' NF - Email page NF on Television, Europe March 29-April 4, 1999 : none Your Corner?: 8 pages Complete NF link list Concept Fan Guest book Learning Disability ... Obsolete Entries Page construction: 26 May 1996 Last update: June 21, 1999 What's new since April 1: Starr Tennessee Joseph Joseph Gail Texas Laura UK Brett Australia Rebecca North Dakota Amy Ohio Tammie 13 yrs Drew 9 yrs Trish Delaware Cathy Minnesota Bonnie Indiana Denis France Marti Illinois Megan 18 yrs Stephanie 16 yrs Danny 8 yrs Sue Canada Solomon 18 mts Ricky 8 yrs Hunter 9 yrs Haley 7 yrs Tony 8 yrs Amanda 11 yrs Halley 15 yrs Kelli 16 yrs Jeff 18 yrs Laura 14 yrs Aussie/NZ page Purpose: A resource for those who have Neurofibromatosis to communicate with each other using the internet. Also, parents of affected children may find or give support. Translation: Bjorn is willing to translate Italian - English. Sono disposto a tradurre gratuitamente dall'inglese per coloro che cercano informazioni sulle Neurofibromatosi nell'Internet. The Webmaster is willing to translate information regarding NF on this home page. English, Dutch, German, Swiss-German and French.

95. THE MERCK MANUALSECOND HOME EDITION, Neurofibromatosis In Ch. 88 neurofibromatosis. neurofibromatosis is a genetic disorder About half of the people with neurofibromatosis inherit it. Only one gene for neurofibromatosis http://www.merck.com/mrkshared/mmanual_home2/sec06/ch088/ch088d.jsp

96. Neurofibromatosis Clinic neurofibromatosis Clinic. The neurofibromatosis (NF) Clinic at Children s Hospital is the only NF clinic in the state recognized by the National NF Foundation. http://www.chw.org/display/PPF/DocID/923/router.asp

Neurology Clinic Brachial Plexus Clinic Epilepsy Center Headache Clinic ... Outpatient clinics : Neurofibromatosis Clinic E-mail this page Print this page Neurofibromatosis Clinic The Neurofibromatosis (NF) Clinic at Children's Hospital is the only NF clinic in the state recognized by the National NF Foundation. Clinic staff follow more than 200 children with neurofibromatosis. Location The Neurofibromatosis Clinic is located on Level I of the Curative Care Network building, across the parking lot from Children's Hospital. Enter the north door (which faces the Children's Hospital parking structure) and take the elevator to Level I. Free parking is available in the Children's Hospital visitor lot or parking structure. Parking for a fee is available at Curative. Hours The NF Clinic is held on the third Wednesday of each month. To speak with someone in the Neurofibromatosis Clinic about your child, call (414) 266-3347. To request an appointment, click here What happens at a clinic visit? New patients meet with the medical geneticist and a genetic counselor in the morning for the initial part of the evaluation. In the afternoon, after a lunch break, new patients will meet with other specialists, as needed, for a complete NF team evaluation. Most new patients also will see an ophthalmologist as part of the diagnostic evaluation. This appointment is scheduled separately, but often can be arranged for the same day as the NF clinic visit.

97. Neurofibromatosis 1 Newborn Genetic Testing Home Newborn Genetic Screening Full Medical Reports neurofibromatosis 1 neurofibromatosis 1. neurofibromatosis Fact Sheet. http://gslc.genetics.utah.edu/units/newborn/infosheets/nf1.cfm

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Full Medical Reports Neurofibromatosis 1 Neurofibromatosis 1 Neurofibromatosis 1 (NF1) is a genetic disorder that primarily affects the development and growth of cells in the nervous system. The disorder can cause neurofibromas (tumors to grow on nerves), freckling, cafe-au-lait spots (light brown spots on the skin), learning disabilities and bone deformities. The type and severity of symptoms shown by NF1 patients can vary widely, even between affected individuals from the same family. Genetics The NF1 gene, located on chromosome 17, produces a large and complex protein called neurofibromin. Scientists theorize that this protein acts as a switch to regulate cell growth. Inheritance Autosomal dominant. However, about 50 percent of cases are caused by spontaneous new mutations in the NF1 gene that occur in the sperm or egg prior to fertilization. This mutant allele can then be passed on to the individual's offspring. Incidence NF1 is one of the most common dominantly inherited genetic disorders with an incidence of 1 in 3,500 - 4000. The incidence of spontaneous mutations in the NF1 gene is 1 in 10,000. This is one of the highest known mutation rates for a disorder associated gene. The reason for this is currently under investigation, but may be due to the large size of the NF1 gene.

98. WAPD Knowledge Base - Neurofibromatosis Information Atlanta, GA. neurofibromatosis. neurofibromatosis (NF) is a condition What Is neurofibromatosis? neurofibromatosis is a neurocutaneous syndrome http://www.wapd.org/kb/neurofibromatosis.html

Neurofibromatosis Neurofibromatosis (NF) is a condition that causes tumors to grow on nerve tissue, producing skin and bone abnormalities. NF is often diagnosed in childhood. The effects of the disease are varied - one child might live almost unaffected by the condition, whereas another might be severely disabled. Children with more severe forms of the disorder are usually diagnosed in infancy. Although there's no specific cure for NF, tumors can usually be removed and related complications can be treated. Children with NF may need special schooling because learning disabilities are seen in about half of children with the disease. What Is Neurofibromatosis? Neurofibromatosis is a neurocutaneous syndrome (a genetic neurological disorder affecting the brain, spinal cord, nerves, and skin) in which tumors, called neurofibromas, grow along nerves in the body, or on or under the skin. The tumors arise from changes in the cells of the nerves and skin, and as they increase in size, they may press on vital areas of the body, causing problems in the way the body functions. It's not uncommon for neurofibromas to first appear during childhood or sometimes during puberty. One of the first noticeable signs of the disorder is often cosmetic disfigurement caused by these tumors. Neurofibromas can often be removed. Although usually benign (noncancerous), they can sometimes become cancerous. There are two types of neurofibromatosis, referred to as NF1 and NF2. NF1 is more common, occurring in one of every 4,000 births, and affecting an estimated 100,000 Americans. It is also known as von Recklinghausen disease.

99. Segmental Neurofibromatosis Segmental neurofibromatosis Brian Toy MD Dermatology Online Journal 9(4) 26. From thyroxine. There is no family history of neurofibromatosis. http://dermatology.cdlib.org/94/NYU/Apr2002/2.html

DOJ Contents Segmental neurofibromatosis Brian Toy MD Dermatology Online Journal 9(4): 26 From the Ronald O. Perelman Department of Dermatology, New York University Abstract Segmental neurofibromatosis is a rare variant of neurofibromatosis in which skin lesions are confined to a circumscribed body segment. A case of a 72-year-old woman with this condition is presented. Clinical features and genetic evidence are reviewed. Clinical summary History. Past medical history includes inverse psoriasis, diabetes mellitus, hypertension, hypothyroidism, and endometriosis. Medications include gemfibrozil, captopril, amlodipine, and thyroxine. There is no family history of neurofibromatosis. Physical examination. Figure 1 Figure 2 Laboratory data. Histopathology. Diagnosis. Comment ]. The affected area can vary in size from a narrow strip to an area encompassing half of the body. Distribution may be unilateral or bilateral and symmetric or asymmetric [ Segmental neurofibromatosis has been described in 82 patients worldwide, with a median age of onset of 28 years [ ]. Systemic disease is uncommon, and most patients have no family history of neurofibromatosis.

100. Neurofibromatosis neurofibromatosis. There are two types of neurofibromatosis, a rare inherited disorder that results in benign tumors of the nerves and other parts of the body. http://www.cedars-sinai.edu/5279.html

Home Medical Dictionary Contact Us About Us ... Neurofibromatosis Neurofibromatosis Neurofibromatosis is a rare inherited disorder that results in benign tumors of the nerves and other parts of the body. Symptoms of this disease range from being virtually unnoticeable to causing neurologic problems or bone defects that affect the skull and spine. Symptoms There are two types of neurofibromatosis. Type 1 (NF-1), also called von Recklinghausen's disease, causes multiple benign (noncancerous) tumors of the nerves and skin. Type 2 (NF-2) causes benign tumors of the nerves that transmit sound from the inner ears to the brain. In some cases, NF-2 causes visions problems and increases the risk of developing specific brain and spinal cord tumors. NF-1 can also cause a change in the color of the skin. Areas of unusual skin color may appear on the trunk of the body as well as cause freckling under the arms or in the groin area. Abnormal skin color may be seen in the patient by one year of age, and the area affected gets bigger over time. At birth or early childhood, patients may have rather large benign tumors that consist of bundles of nerves. They may also develop harmless tumor-like nodules of the colored parts of the eyes or tumors of the optic nerves, which send nerve impulses from the innermost membrane of the eyes (retinas) to the brain. More rarely, patients may develop certain malignant (cancerous) tumors.

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