61. Request Information incontinentia pigmenti Richard A Medicine. incontinentia pigmenti (IP) is a genetic disease of the skin, hair, eyes, and teeth. The http://www.nfed.org/IP.htm

Request Information Information Request Form Publication Order Form Contact Us About The NFED Board of Directors Conferences History Meet Some of Our Families ... Vision, Mission, Values About Ectodermal Dysplasia FAQs / General Description Genetics Medical Articles ... Types of ED Support Kids' Corner Teens Parents / Adults Research General Announcements Current ED Research Completed ED Research Grant Application Process Giving Donate Fundraising Events Sponsorship Opportunities Types of Gifts ... Your Donations At Work Incontinentia Pigmenti Richard A. Lewis, MD., MS Baylor College of Medicine Incontinentia Pigmenti (IP) is a genetic disease of the skin, hair, eyes, and teeth. The condition was named for the way that the pigment accumulates in the skin when it is examined under the microscope. IP was reported initially in 1906, but the first complete description was written by Bloch and Sulzberger in 1928. "Bloch-Sulzberger Syndrome" is another name commonly used for IP. Other names are: Bloch-Siemens incontinentia pigmenti, melanoblastosis cutis linearis, and the pigmented dermatosis, Siemens-Bloch type. All these names describe the same condition which we call IP. IP has not been studied in great detail until recently, so the information about it has been both limited and confusing when read historically. This discussion covers what is currently known or suspected about IP but is not conclusive or complete. Genetics: IP is an X-linked dominant condition. This means that females with only one copy of the abnormal gene will show the disease, even though they have a normal gene on their other X-chromosome. That is, the effect of the disease copy predominates over the normal copy. Males who inherit the abnormal gene (and, of course, do not have any balancing normal copy) do not survive pregnancy, which implies that a normal copy of the IP gene is extremely important to survival in the womb. The function of the normal gene is not known at this time.

62. ► Incontinentia Pigmenti Syndrome incontinentia pigmenti syndrome. Causes, incidence, and risk factors incontinentia pigmenti syndrome (IPS) is inherited as a dominant Xlinked trait. http://www.umm.edu/ency/article/001583.htm

Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Incontinentia pigmenti syndrome Overview Symptoms Treatment Prevention Definition: An inherited disorder that causes unusual blistering of the skin followed by increased pigmentation. Alternative Names: Bloch-Sulzberger's disease Causes, incidence, and risk factors: Incontinentia pigmenti syndrome (IPS) is inherited as a dominant X-linked trait . Almost all cases are among females and the condition may be lethal in males. IPS may also arise as a spontaneous mutation. Infants with IPS are born with blistery (vesicular) lesions which appear as streaks. These lesions heal as rough or verrucous papules. Eventually, these papules clear but leave damaged hyperpigmented (too much pigment) skin behind. After several years, the skin returns to normal. In some adults, whorls and streaks of faint hypopigmentation (less pigment than normal) may appear. Most people with IPS also have other problems including abnormal teeth, hair loss , and central nervous system (CNS) abnormalities. CNS problems may include retardation and delayed development

63. Medical Genetics - X-linked Dominant: Incontinentia Pigmenti Xlinked Dominant incontinentia pigmenti. Genes are inherited from our biological parents in specific ways. What is incontinentia pigmenti (IP)? http://www.musckids.com/health_library/genetics/xdomin.htm

Home About Us Departments Send an e-Card ... Your Hospital Visit 171 Ashley Ave. Charleston, SC 29425 800-424-MUSC Print Version Medical Genetics X-linked Dominant: Incontinentia Pigmenti Genes are inherited from our biological parents in specific ways. One of the basic patterns of inheritance of our genes is called X-linked dominant inheritance. What is X-linked dominant inheritance? X-linked dominant inheritance is where the gene is located on the X chromosome, but the gene acts in a dominant manner. This means that both males and females can display the trait or disorder, by only having one copy of the gene. Depending on the disorder, often times a gene that is X-linked dominant causes a male pregnancy not to survive. Another way scientists and physicians refer to this process is to say that "there is lethality in males." This means that the gene is passed from mother to daughter, and, if passed to a son, the pregnancy miscarries. Only those sons without the gene survive to be born and are born healthy. One example of an X-linked dominant condition is called incontinentia pigmenti (IP). What is incontinentia pigmenti (IP)?

64. Health Library - incontinentia pigmenti. incontinentia pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

65. Incontinentia Pigmenti Translate this page Prof. Dr. JG Casas. incontinentia pigmenti. incontinentia pigmenti. incontinentia pigmenti. Arriba Queratosis seborreica. Hidroacantoma simplex. http://www.seap.es/reuniones/almagro2000/casas/nidosg2.htm

Curso Internacional de Dermatopatología Arriba Queratosis seborreica. Hidroacantoma simplex. Enfermedad de Bowen [ Incontinentia pigmenti ] Nevo recurrente - Melanoma Células de Langerhans - Micosis fungoide Enfermedad de Paget - Carcinoma apocrino Papulosis de células claras ... Carcinoma de células de Merkel Nidos intraepidérmicos Prof. Dr. J. G. Casas Incontinentia pigmenti Incontinentia pigmenti Incontinentia pigmenti Arriba Queratosis seborreica. Hidroacantoma simplex. Enfermedad de Bowen [ Incontinentia pigmenti ] Nevo recurrente - Melanoma Células de Langerhans - Micosis fungoide Enfermedad de Paget - Carcinoma apocrino Papulosis de células claras ... Carcinoma de células de Merkel

66. Incontinentia Pigmenti incontinentia pigmenti. incontinentia pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord409

67. Genetic Disorders: Incontinentia Pigmenti Genetic Disorders incontinentia pigmenti. incontinentia pigmenti. Informational incontinentia pigmenti International Foundation. Details http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/In

Genetic Disorders: Incontinentia Pigmenti Home Health Conditions and Diseases Genetic Disorders : Incontinentia Pigmenti google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000'; Standard Listings Incontinentia Pigmenti Informational sheet compiled by National Institute of Neurological Disorders and Stroke. Incontinentia Pigmenti International Foundation Details about the organization that is dedicated to research into the causes and treatment of this genetic disease. Includes information about th... Incontinentia Pigmenti: All About Anna The authors' daughter was diagnosed with IP 6 weeks after birth. This is her story. MCW Healthlink: Incontinentia Pigmenti An article about this rare genetic disorder, its stages and symptoms. National Library of Medicine Bloch-sulzberger syndrome, the synonyms, a summary and major features. Readers Digest Health: IP A general discussion about incontinentia pigmenti, with alternate names and further resources.

68. Medical Genetics - X-linked Dominant: Incontinentia Pigmenti Xlinked Dominant incontinentia pigmenti Genes One example of an X-linked dominant condition is called incontinentia pigmenti (IP). What http://www.chkd.org/Genetics/Xdomin.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmology Orthopedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. X-linked Dominant: Incontinentia Pigmenti Genes are inherited from our biological parents in specific ways. One of the basic patterns of inheritance of our genes is called X-linked dominant inheritance. What is X-linked dominant inheritance? X-linked dominant inheritance is where the gene is located on the X chromosome, but the gene acts in a dominant manner. This means that both males and females can display the trait or disorder, by only having one copy of the gene. Depending on the disorder, often times a gene that is X-linked dominant causes a male pregnancy not to survive. Another way scientists and physicians refer to this process is to say that “there is lethality in males”. This means that the gene is passed from mother to daughter, and, if passed to a son, the pregnancy miscarries. Only those sons without the gene survive to be born and are born healthy. One example of an X-linked dominant condition is called incontinentia pigmenti (IP).

69. Conditions And Diseases - Incontinentia Pigmenti Top Links incontinentia pigmenti Web Site Links. MCW Healthlink incontinentia pigmenti An article about this rare genetic disorder, its stages and symptoms. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Incontinentia Pigmenti Web Site Links National Library of Medicine Bloch-sulzberger syndrome, the synonyms, a summary and major features. Drkoop.com: Medical Encyclopedia Information about incontinentia pigmenti, its causes, symptoms, tests, diagnosis, treatment and possible complications. MCW Healthlink: Incontinentia Pigmenti An article about this rare genetic disorder, its stages and symptoms. Incontinentia Pigmenti Informational sheet compiled by National Institute of Neurological Disorders and Stroke. Vanderbilt Medical Center An article about incotinentia pigmenti. Readers Digest Health: IP A general discussion about incontinentia pigmenti, with alternate names and further resources. Incontinentia Pigmenti International Foundation Details about the organization that is dedicated to research into the causes and treatment of this genetic disease. Includes information about the disease, genetics and genes. Incontinentia Pigmenti: All About Anna The authors' daughter was diagnosed with IP 6 weeks after birth. This is her story.

70. OM INCONTINENTIA PIGMENTI OM incontinentia pigmenti. http://medlem.jubii.dk/ipd/omip.htm

OM INCONTINENTIA PIGMENTI Forside Baggrund Kilder og Links Bliv medlem Hvad er IP IP er en genetisk sygdom (der sidder på X-kromosomet) der ses på hud, hår, tænder, øjne og det centrale nervesystem. Sygdommen fik sit navn pga. hudens udseende under mikroskop. Det blev først beskrevet i 1906 af Garrod, men den første komplette beskrivelse blev skrevet af Bloch og Sulzberger i 1928 - deraf navnet Bloch-Sulzberger syndrom som sygdommen også kaldes. Al genetisk information er arvet fra vore forældre. Som de fleste ved er X-kromosomet livsvigtigt - begge køn har det. Hunkøn har 2 X-kromosomer mens hankøn har 1 X-kromosom og 1 Y-kromosom. Derfor er der nogle sygdomme, der kun rammer hunkøn hvor hankøn automatisk vil dø, pga. antallet af X-kromosomer som er tilfældet ved IP. Dvs. at det er kun hunkøn der overlever sygdommen. Det betyder at hunkøn har et defekt gen, forårsaget af en mutation, på det ene X-kromosom og et ganske normalt X-kromosom. IP vil altid være at se, men man kan ikke sige hvor udtalt den vil være hos hvert enkelt individ. En kvinde der har IP vil ved enhver graviditet give halvdelen af hendes genetiske informationer til fosteret. Der vil være 50% chance for at videreføre X-kromosomet med det defekte gen uanset fosterets køn.

71. Incontinentia Pigmenti - DNA Analysis incontinentia pigmenti, IP, DNA Analysis. Familial incontinentia pigmenti finally dermal scarring . incontinentia pigmenti DNA ANALYSIS. http://www.bcmgeneticlabs.org/tests/dna/incontinentiapigmenti.html

INCONTINENTIA PIGMENTI DNA ANALYSIS Open Page in New Window Print This Page Return to Search Reasons for Referral: Confirmation of diagnosis of Incontinentia Pigmenti for individuals with phenotypic features. Unusual phenotypes (such as IP in a male) should be discussed in advance. Carrier testing and prenatal diagnosis in families with an identified deletion mutation in the NEMO gene. Testing Methodology: Southern analysis for the common NEMO gene deletion is performed with an exon 2 probe and a genomic HindIII restriction digest. This assay detects an 8kb deletion junction fragment and a normal 12kb band. This diagnostic strategy was designed to avoid potential complications due to the presence of a NEMO pseudogene downstream. Sensitivity: Specimen Requirements: Blood: EDTA (purple-top) tubes: Adults: Child: 6 cc; Infant: Requisition form must accompany specimen. Prior to any genetic testing, we recommend genetic counseling and request that the subject, or their legal guardian, sign our consent form and submit it with the sample. Turnaround Time: 2-3 weeks CPT Codes and Prices References: 1. The International Incontinentia Pigmenti (IP) Consortium. "Genomic rearrangement in NEMO impairs NF-kB activation and is a cause of incontinentia pigmenti. Nature 405: 466-472, 2000.

72. Incontinentia Pigmenti incontinentia pigmenti (IP). incontinentia pigmenti, tyyppi II BlochSulzbergerin oireyhtymä. incontinentia pigmenti, tyyppi II on vallitsevasti periytyvä. http://www.saunalahti.fi/kup/syndroma/ip.htm

Kehitysvammahuollon tietopankki Ihon, hiusten, hermoston ja hampaiden kehityshäiriöt Incontinentia Pigmenti (IP) Incontinentia Pigmenti, tyyppi II Bloch-Sulzbergerin oireyhtymä Incontinentia Pigmenti, tyyppi II on vallitsevasti periytyvä . Sen aiheuttaa X-krosomin geenimutaatio (Xq28). Tyyppi I on useammankin kromosomin satunnaisen geenivirheen aiheuttama. IP-tauti aiheuttaa iho-oireita, minkä lisäksi siihen liittyy silmien, keskushermoston ja hampaiston vaurioita. Myös kynsien ja hiusten vaillinaisuuksia esiintyy usein. Niinikään pienipäisyydestä mainitaan sairautta koskevissa raporteissa. Iho-oireet ilmenevät vaiheittain. Vastasyntyneen iho on punanainen ja rakkuloiva. Seuraavalla tasolla esiintyy käsien ja jalkapohjien rupia. Kolmannessa vaiheessa muodostuu ylipigmentoituneita ihoalueita, ja lopuksi ihon kalpenemista, kuivumista ja arpeutumista. Mahdolliset keskushermostovauriot ilmenevät epilepsiana tetraplegiana ja kehitysvammaisuutenakin IP-tauti on kaksi kertaa yleisempi naisilla kuin miehillä. Geenivirheen saaneet miehet eivät useinkaan synny elävinä. Esiintymistiheys on luokkaa 1/40.000. Sairaus on yleisempi kaukasialaisen väestön piirissä kuin muualla. Lisätietoja: Iholiitto ja harvinaisten ihotautien keskus :Incontinentia pigmenti (IP), Väestöliitto, Perinnöllisyysklinikan tietolehtiset, Maarit Peippo

73. Incontinentia Pigmenti - HUM-MOLGEN Author, Topic incontinentia pigmenti. I have a patient with incontinentia pigmenti. She is 4 months old, there isn t any other patient in her family. http://www.hum-molgen.de/bb/Forum2/HTML/000073.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Incontinentia Pigmenti profile register preferences faq ... next oldest topic Author Topic: Incontinentia Pigmenti Fatma SILAN Member posted 04-17-2001 09:52 AM Dear Colleagues, I am geneticist at Duzce Medical Faculty-Turkey. I have a patient with Incontinentia Pigmenti. She is 4 months old, there isn't any other patient in her family. If you interest IP or Xq11(?), I can send you her blood samples. Thanks for collaboration Yr.Doc.Dr. Fatma SILAN AIBU Duzce Medical Faculty Medical Biology and Genetics, Chair IP: 193.140.158.120 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 Open Topic Forum List of Archives: Genetic News DIAGnostics - Clinical Research Contact Us HUM-MOLGEN HUM-MOLGEN Powered by: Ultimate Bulletin Board, Version 5.44a By posting requests at HUM-MOLGEN you reach more than 9.500 mailing list subscribers and a 6 digit number of www users. Therefore post high quality messages only, including full name and institutional address.

74. Preimplantation Diagnosis For IP (Incontinentia Pigmenti) - HUM-MOLGEN Author, Topic Preimplantation diagnosis for IP (incontinentia pigmenti). We are caring for a family with IP (incontinentia pigmenti). http://www.hum-molgen.de/bb/Forum2/HTML/000047.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Preimplantation diagnosis for IP (Incontinentia pigmenti) profile register preferences faq ... next oldest topic Author Topic: Preimplantation diagnosis for IP (Incontinentia pigmenti) Administrator Administrator posted 09-11-2000 09:53 AM We are caring for a family with IP (Incontinentia pigmenti). Two affected sisters apparently have the common insertion mutation. The family is seeking pre-implantation diagnosis. Moshe Frydman MD Associate Professor of Pediatrics and Medical Genetics, The Danek Gertner Institute of Human Genetics Chaim Sheba Medical Center, Tel Hashomer, 52621, Israel E-mail: mfrydman@POST.TAU.AC.IL IP: 160.45.191.21 Administrator Administrator posted 04-17-2001 01:50 PM Genetic diagnosis for IP is available through the Baylor DNA Diagnostic Laboratory at www.bcmgeneticlab.org Richard Alan Lewis M.D., M.S. Professor, Departments of Ophthalmology, Medicine, Voice: 713-798-3030; Fax: 713-798-3042 IP: 160.45.191.21 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

75. Incontinentia Pigmenti Syndrome- Medcohealth.com incontinentia pigmenti syndrome is an inherited disorder that causes unusual blistering of the skin followed by increased pigmentation. http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise

76. Incontinentia Pigmenti Translate this page Cette page utilise des cadres, mais votre navigateur ne les prend pas en charge. http://www.atlas-dermato.org/atlas/incontinentiafin.htm

Cette page utilise des cadres, mais votre navigateur ne les prend pas en charge.

77. Incontinentia Pigmenti ELECTRONIC ARTICLE Two Cases of incontinentia pigmenti Simulating Child Abuse. Lydia Ciarallo. Key words incontinentia pigmenti, child abuse. CASE REPORTS. http://www.vaccinetruth.org/incontinentia_pigmenti.htm

PEDIATRICS Vol. 100 No. 4 October 1997, p. e6 ELECTRONIC ARTICLE: Two Cases of Incontinentia Pigmenti Simulating Child Abuse Lydia Ciarallo Division of Emergency Medicine Department of Pediatrics Brown University School of Medicine Providence, RI 02903 Amy S. Paller Division of Dermatology Department of Pediatrics Northwestern University School oof Medicine Chicago, IL ABSTRACT In the United States 1.4 million children were maltreated in 1988, resulting in an estimated 2000 to 5000 deaths. Largely due to the rising awareness and sensitivity to the horrors of child abuse, the number of deaths declined to approximately 1500 in 1993. Guidelines have been published to aid in the identification and management of child maltreatment, and reporting of all suspicious cases is mandated by law. In our zealous efforts to protect children, some families are investigated because of misdiagnosed abnormalities, often cutaneous, leading to the unintentional injury of both patients and their families. In this report, we describe two patients with cutaneous and/or visceral manifestations of incontinentia pigmenti (IP) who

78. Medical Genetics - X-linked Dominant: Incontinentia Pigmenti Xlinked Dominant incontinentia pigmenti. Genes are inherited from our biological parents in specific ways. What is incontinentia pigmenti (IP)? http://uuhsc.utah.edu/healthinfo/pediatric/genetics/xdomin.htm

X-linked Dominant: Incontinentia Pigmenti Genes are inherited from our biological parents in specific ways. One of the basic patterns of inheritance of our genes is called X-linked dominant inheritance. What is X-linked dominant inheritance? X-linked dominant inheritance is where the gene is located on the X chromosome, but the gene acts in a dominant manner. This means that both males and females can display the trait or disorder, by only having one copy of the gene. Depending on the disorder, often times a gene that is X-linked dominant causes a male pregnancy not to survive. Another way scientists and physicians refer to this process is to say that "there is lethality in males." This means that the gene is passed from mother to daughter, and, if passed to a son, the pregnancy miscarries. Only those sons without the gene survive to be born and are born healthy. One example of an X-linked dominant condition is called incontinentia pigmenti (IP). What is incontinentia pigmenti (IP)? IP is extremely rare. The main features occur in the skin where a blistering rash occurs in the newborn period, followed by the blisters becoming raised-like warts. Next, brown swirls appear in the skin, followed by the appearance of light swirls. The result is a "marble cake-like" appearance on the skin. Other health problems can be seen in IP involving the eyes, central nervous system, teeth, nails, and hair. The severity varies from person to person. Click here to view the Online Resources page.

79. Medizin-Lexikon - Krankheitsbild Incontinentia Pigmenti ICD Q82.3 Translate this page ICD10 Code incontinentia pigmenti. http//medikamente.focus.msn.de. incontinentia pigmenti. Krankheitsbild incontinentia pigmenti ICD10-Code Q82.3 http://www.med-kolleg.de/icd/I/13059.htm

Facharzt-Suche, Klinik-Suche Medizin-Lexikon und mehr Home Kliniksuche Apotheken Medizinisches Lexikon ... Medizin News Suche Suche nach Diagnose oder ICD10 A B C D ... Medizin Newsletter Registrieren Sie sich mit Ihrer eMail-Adresse und Sie erhalten unseren Medizin Newsletter Email-Adresse: Anmelden Abmelden Weitere Informationen... Sie sind hier: Medizin Ratgeber ICD10 Verzeichnis I > Incontinentia pigmenti ICD10 Code Incontinentia pigmenti Medikament Bestellen FOCUS Gesundheit - Vor dem Bestellen vergleichen und sparen: 7000 rezeptfreie Medikamente schnell und verständlich im Überblick - mit aktuellen Preisen. http://medikamente.focus.msn.de Incontinentia pigmenti Krankheitsbild: Incontinentia pigmenti ICD10-Code: Q82.3 Der ICD10 ist eine internationale Klassifikation von Krankheiten ( Diagnose ). ICD10SGBV (die deutsche Fassung) wird in Deutschland als Schlüssel zur Angabe von Diagnosen, vor allem zur Abrechnung mit den Krankenkassen, verwendet. Top-Links: Gesundheit im SGD Fitness Fernkurs http://www.sgd.de Gesundheit FOCUS Gesundheit - Gesund werden und sparen: 7000 rezeptfreie Arzneimittel schnell und einfach vergleichen - mit aktuellen Preisen. http://medikamente.focus.msn.de

80. NORD - National Organization For Rare Disorders, Inc. incontinentia pigmenti. Copyright 1988, 1990, 1999, 2003 Synonyms of incontinentia pigmenti BlochSiemens incontinentia pigmenti Melanoblastosis Cutis Linearis; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Incontinentia

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