61. Incontinentia Pigmenti National network. Founded 1995. Dedicated to research, family support and physician awareness on incontinentia http://webcenter.health.webmd.netscape.com/hw/skin_and_beauty/shc29inp.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Women, Men, Lifestyle Overview Aging Alternative Medicine Dental Emotional Wellness Eye Health Fitness Healthy Sexuality Men Women Health Topics Symptoms Medical Tests Medications ... Incontinentia Pigmenti International Foundation Incontinentia Pigmenti Incontinentia Pigmenti International Foundation National network. Founded 1995. Dedicated to research, family support and physician awareness on incontinentia pigmenti. Maintains international database of patients. WRITE: Incontinentia Pigmenti Fdn. 30 East 72nd St., 16th Fl. New York, NY 10021 CALL: 212-452-1231 FAX: 212-452-1406 E-MAIL: ipif@ipif.org WEBSITE: http://imgen.bcm.tmc.edu/IPIF VERIFIED: 4/18/2005 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

62. Incontinentia Pigmenti The cutaneous lesions of incontinentia pigmenti classically evolve in stages, We describe herein female twins with incontinentia pigmenti caused by a de http://www.thedoctorsdoctor.com/diseases/incontinentiapigmenti.htm

Background This rare disease is an X-linked dominant inherited disorder. Thus, most males carrying the gene usually die in utero. There are rare males with the disease and presumably these represent new mutations. It affects multiple organs and presents with vesiculobullous lesions with erythema, at birth or soon thereafter. It has a characteristic linear arrangement on the extremities and lateral aspects of the trunk. These bullous and erythematous lesions evolve into verrucous lesions after weeks to months. This may be followed by atrophy or depigmentation with a slate-brown or blue-gray pigmentation. This may not fade until adulthood. Finally, usually in adulthood, there are hypopigmented or depigmented linear macules on the extremities and trunk with a lack of skin appendages. The diagnosis is usually confirmed by a biopsy but the characteristic collection of organ system changes may strongly suggest the diagnosis. OUTLINE Epidemiology Disease Associations Pathogenesis Laboratory/Radiologic/ ... Internet Links EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Bloch-Sulzberger disease INCIDENCE Rare AGE RANGE-MEDIAN Newborn SEX (M:F) Most males die in utero De Novo incontinentia pigmenti in female twins.

63. Incontinentia Pigmenti - HUM-MOLGEN 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(? http://hum-molgen.org/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 unregistered 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.

64. Preimplantation Diagnosis For IP (Incontinentia Pigmenti) - HUM-MOLGEN We are caring for a family with IP (incontinentia pigmenti). Two affected sisters apparently have the common insertion mutation. http://hum-molgen.org/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

65. Incontinentia Pigmenti incontinentia pigmenti is an uncommon Xlinked dominant disorder, incontinentia pigmenti a review and update on the molecular basis of pathophysiology. http://www.humpath.com/article.php3?id_article=1747

66. Incontinentia Pigmenti Type 1 incontinentia pigmenti type 1. Examinations Photographs Movies Links Home Search noJava Home. http://medgen.genetics.utah.edu/photographs/pages/incontinentia_pigmenti_type_1.

incontinentia pigmenti type 1 Examinations Photographs Movies Links ... noJava Home

67. Incontinentia Pigmenti - Information & News Continuing studies about an important regulatory protein kinase complex called Ikappa-B kinase (or IKK) have now shown that a subunit of IKK ? http://www.news-medical.net/?keyword=Incontinentia pigmenti

68. Incontinentia Pigmenti incontinentia pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. http://www.bchealthguide.org/kbase/nord/nord409.htm

var hwPrint=1;var hwDocHWID="nord409";var hwDocTitle="Incontinentia Pigmenti";var hwRank="1";var hwSectionHWID="nord409-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Incontinentia Pigmenti Important It is possible that the main title of the report Incontinentia Pigmenti is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Bloch-Siemens-Sulzberger Syndrome Bloch-Sulzberger Syndrome IP Bloch-Siemens Incontinentia Pigmenti Melanoblastosis Cutis Linearis Pigmented Dermatosis, Siemens-Bloch type Disorder Subdivisions None General Discussion Incontinentia Pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. Progressive skin changes occur in four stages, the first of which appears in early infancy or is present at birth. IP is inherited as an X-linked dominant trait. Resources March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605

69. Incontinentia Pigmenti - DNA Analysis Familial incontinentia pigmenti is an Xlinked disorder that affects the development of several ectodermal derivatives, skin, hair, teeth, nails, brain, http://www.bcmgeneticlabs.org/tests/dna/incontinentiapigmenti.html

INCONTINENTIA PIGMENTI DNA ANALYSIS Open Page in New Window Print This Page Return to Search NEMO gene (NF-kB Essential MOdulator) that maps to chromosome Xq28. NEMO is essential to activation of the NF-kB transcription factor, which participates in many immune, inflammatory, and apoptotic pathways. Different NEMO gene mutations have been identified. Approximately 80% of IP patients were shown to carry a common deletion mutation that removes exons 4 through 10 of the NEMO gene. This DNA rearrangement appears to be mediated by flanking repeat sequences. Our laboratory is currently offering diagnostic testing for the common NEMO gene deletion by Southern analysis. 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.

70. Hill Health Topics A-Z - Incontinentia Pigmenti incontinentia pigmenti. National Organization for Rare Disorders. Important It is possible that the main title of the report incontinentia pigmenti is not http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord409&SE

71. Hill Health Topics A-Z - Incontinentia Pigmenti incontinentia pigmenti International Foundation. National network. Founded 1995. incontinentia pigmenti Fdn. 30 East 72nd St., 16th Fl. http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=shc29inp&S

72. Incontinentia Pigmenti (IP) (xrts28.htm) incontinentia pigmenti is a rare condition, affecting girls. Only in exceptional circumstances does it affect boys. What are the features of IP? http://www.ectodermaldysplasia.org/text/xrts28.htm

Incontinentia Pigmenti (IP) (Bloch-Sulzberger syndrome) by Dr Helen Stewart Consultant in Clinical Genetics Churchill Hospital, Oxford, UK How common is IP? Incontinentia Pigmenti is a rare condition, affecting girls. Only in exceptional circumstances does it affect boys. What are the features of IP? IP affects many parts of the body. It can affect different people to different degrees. Skin features There are typically four stages that occur one after the other, though they may overlap. No specific treatment is needed for the skin changes. Stage 1 There is redness of the skin, then blistering, starting from the first few weeks of life. The blisters do not affect the face but occur in lines along the limbs and round the body. Blistering usually stops by four months of age, though blisters may recur at times when the child has a temperature. During this stage, the blisters should be kept clean and dry. Stage 2 As the blisters heal, warty areas occur on the skin of the hands and feet. In most cases these clear by six months of age. Stage 3 This is the stage that gives the condition its name. There are streaks and whorls of pigment along the limbs and round the body. These darken initially, then fade, usually by the age of 16 years.

73. Incontinentia Pigmenti - Small, But Not Insignificant (xrts19.htm) incontinentia pigmenti small, but not insignificant. by Karen Mosely. My daughter, Katie, is 11 - she arrived 4 weeks prematurely, was footling breech http://www.ectodermaldysplasia.org/text/xrts19.htm

Incontinentia Pigmenti - small, but not insignificant by Karen Mosely My daughter, Katie, is 11 - she arrived 4 weeks prematurely, was footling breech presentation and had to be delivered by emergency caesarean section - a bit of a shock to all of us, including Katie! Whilst in hospital for the first week I had difficulty feeding her; the midwives said she was a very 'windy' baby. Just prior to discharge a junior doctor saw her being 'windy' and promptly rushed her to the Special Care Baby Unit - the 'wind' was her having convulsions. This was all a bit much to take - my little girl in an incubator covered in wires and on phenobarbitone. However, the drugs stopped the convulsions* and we thought we'd be going home; but then the 'nappy rash' that had been virtually ignored spread up her trunk and over her arms and legs - What now?! *It's thought that the fits were caused by her prematurity/delivery - not connected to IP. Luckily for us, as I now know people have had to wait months or years for diagnosis, the attending Dermatologist thought immediately that it could be Incontinentia Pigmenti - asked for a biopsy and confirmed it. Although I said luckily - at the time we didn't feel at all lucky. Nothing seemed to be known about this genetic condition. The paediatrician (a lovely man) went from books and could do no more than reassure us that the fits had stopped for now and tell us that Katie would be carefully monitored. We got worried about all the things that

74. All That Is Vesicular Is Not Herpes: Incontinentia Pigmenti Masquerading As Herp Key Words incontinentia pigmenti • herpes simplex virus • BlockSulzberger syndrome. Abbreviations IP, incontinentia pigmenti • HSV, herpes simplex virus http://pediatrics.aappublications.org/cgi/content/full/114/2/e270

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Faloyin, M. Articles by Tan, J. Related Collections PEDIATRICS Vol. 114 No. 2 August 2004, pp. e270-e272 ELECTRONIC ARTICLE All That Is Vesicular Is Not Herpes: Incontinentia Pigmenti Masquerading as Herpes Simplex Virus in a Newborn Morayo Faloyin Jacob Levitt, MD Eric Bercowitz, MD Daniel Carrasco, MD and Jianyou Tan, MD College of Medicine, University of Illinois, Rockford, Illinois Department of Dermatology, Mount Sinai Medical Center, New York, New York Department of Dermpathology, Mount Sinai Medical Center, New York, New York ABSTRACT TOP ABSTRACT CASE REPORT DISCUSSION REFERENCES Incontinentia pigmenti is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities.

75. All That Is Vesicular Is Not Herpes: Incontinentia Pigmenti Masquerading As Herp incontinentia pigmenti is a multisystem genodermatosis characterized by cutaneous, We report a case of an infant who had incontinentia pigmenti and http://pediatrics.aappublications.org/cgi/content/abstract/114/2/e270

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) P ... Alert me if a correction is posted Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Faloyin, M. Articles by Tan, J. Related Collections PEDIATRICS Vol. 114 No. 2 August 2004, pp. e270-e272 ELECTRONIC ARTICLE All That Is Vesicular Is Not Herpes: Incontinentia Pigmenti Masquerading as Herpes Simplex Virus in a Newborn Incontinentia pigmenti is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities. The skin lesions associated with the disease progress through 4 stages, the first being erythematous vesicles linearly distributed along the lines of Blaschko. We report a case of an infant who had incontinentia pigmenti and presented with 2 crops of vesicles and was initially thought to have herpes simplex virus.

76. CMGS-Incontinentia Pigmenti/13.2.01 incontinentia pigmenti (IP) – Gene Identification. Introduction. Genodermatosis – disturbance of skin pigmentation; Named IP, because basal layer of the http://www.ich.ucl.ac.uk/cmgs/inconpig.htm

MRCPath Self Help Course th February 2001 Carl Fratter Incontinentia Pigmenti (IP) – Gene Identification Introduction Genodermatosis – disturbance of skin pigmentation Named IP, because basal layer of the epidermis is said to be "incontinent" of melanin pigment Typically also other abnormalities, especially of the eye, teeth, central nervous system X-linked dominant Usually prenatally male lethal In females, X inactivation is typically highly skewed, so that the normal X is preferentially active Linkage to Xq28 Literature is confusing due to early reports of a locus for IP at Xp11 The locus at Xp11 was first reported in 1985, as it corresponded to the X chromosome breakpoint in cases of "IP" with X:autosome translocations However, it is now considered that these cases are not in fact IP, and it is important to note that all these cases are sporadic Linkage of familial IP to Xq28 was reported in 1989 (8 families studied), after linkage to Xp11 had been excluded in 5 families in 1988 IP linked to Xq28 was initially termed IP2, and this nomenclature is still sometimes used

77. UCLA Department Of Medicine - Wfsection-Incontinentia Pigmenti Without Systemic UCLA Department of Medicine Homepage provides information of the UCLA Medical Center including Latest News, Proceedings of UCLA Healthcare, Useful Weblink, http://www.med.ucla.edu/modules/wfsection/article.php?articleid=139

78. X-linked Dominant: Incontinentia Pigmenti - Children's Hospital Boston 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, http://www.childrenshospital.org/az/Site1801/mainpageS1801P0.html

or find by letter: A-F G-L M-R S-Z My Child Has... Home X-linked Dominant: Incontinentia Pigmenti X-linked Dominant: Incontinentia Pigmenti Programs that treat this condition Genetics Program 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)?

79. Incontinentia Pigmenti Information Diseases Database incontinentia pigmenti,SiemensBloch-Sulzberger melanoblastosis,Bloch-Sulzberger syndrome, Disease Database Information. http://www.diseasesdatabase.com/ddb29600.htm

Diseases Database Index Sponsors Contact ... Previous Page Incontinentia pigmenti information Search 3 synonyms or equivalents were found. Incontinentia pigmenti aka/or Siemens-Bloch-Sulzberger melanoblastosis aka/or Bloch-Sulzberger syndrome may cause or feature (Follow link for list.) risk factors may include (Follow link for list.) belong(s) to the category of (Follow link for list.) Incontinentia pigmenti: Definition(s) via UMLS Code translations and terms via UMLS Incontinentia pigmenti: specific web sites Send Incontinentia pigmenti 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 08:56:16 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!

80. Incontinentia Pigmenti - Wikipedia, The Free Encyclopedia incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, and nails. The skin lesions evolve through characteristic stages 1) http://en.wikipedia.org/wiki/Incontinentia_pigmenti

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 Incontinentia pigmenti From Wikipedia, the free encyclopedia. Incontinentia pigmenti (IP) is a disorder that affects the skin, hair, teeth, and nails. The skin lesions evolve through characteristic stages: 1) blistering (from birth to about four months of age), 2) a wart-like rash (for several months), 3) swirling macular hyperpigmentation (from about six months of age into adulthood), followed by 4) linear hypopigmentation. Alopecia, hypodontia, abnormal tooth shape, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing to retinal detachment in early childhood. Cognitive delays/mental retardation are occasionally seen. The diagnosis of IP is established by clinical findings and occasionally by corroborative skin biopsy. Molecular genetic testing of the IKBKG gene (chromosomal locus Xq28) reveals disease-causing mutations in about 80% of probands. Such testing is available clinically. In addition, females with IP have skewed X-chromosome inactivation; testing for this can be used to support the diagnosis. IP is inherited in an X-linked dominant manner. IP is lethal in most, but not all, males. A female with IP may have inherited the IKBKG mutation from either parent or have a new gene mutation. Parents may either be clinically affected or have germline mosaicism. Affected women have a 50% risk of transmitting the mutant IKBKG allele at conception; however, most affected male conceptuses miscarry. Thus, the expected ratio for liveborn children is 33% unaffected females, 33% affected females, and 33% unaffected males.

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