41. X-linked Dominant: Incontinentia Pigmenti - Lucile Packard Children's Hospital Xlinked Dominant incontinentia pigmenti Genes are inherited from our biological parents in specific ways. What is incontinentia pigmenti (IP)? http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/xdomin.html

Genetics Clinic Metabolic/Biochemical Genetics Clinic Medical Geneticists Medical Genetics ... Packard Children’s Hospital Pediatrician Receives E. Mead Johnson Award For Pediatric Research 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)?

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

document.write(''); var hwPrint=1; var hwDocHWID="nord409"; var hwDocTitle="Incontinentia Pigmenti"; var hwRank="1"; var hwSectionHWID="nord409"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Incontinentia Pigmenti Important It is possible that the main title of the report 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 Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Incontinentia Pigmenti Achromians Franceschetti-Jadassohn Syndrome Caffey Disease Hypomelanosis of Ito 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. Symptoms More than 80 percent of individuals with Incontinentia Pigmenti have dental abnormalities. These abnormalities include a delay in the eruption of primary teeth; abnormal contours of teeth, giving them a peg-like or cone-shaped appearance; or the congenital absence of both primary and secondary teeth.

43. Incontinentia Pigmenti National network. Founded 1995. Dedicated to research, family support and physician awareness on incontinentia pigmenti. WRITE incontinentia pigmenti Fdn. http://www.bchealthguide.org/kbase/shc/shc29inp.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29inp"; var hwDocTitle="Incontinentia Pigmenti"; var hwRank="1"; var hwSectionHWID="shc29inp"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse 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: 4/21/2003 The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org

44. INCONTINENTIA PIGMENTI Features Listed For incontinentia pigmenti. McKusick 308300. Abnormally shaped teeth; Absent or hypoplastic breasts; Aplasia or dysplasia of retina; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?848

45. Incontinentia Pigmenti - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List incontinentia pigmenti. incontinentia pigmenti (IP) is inherited as an Xlinked dominant trait. http://www.medterms.com/script/main/art.asp?articlekey=3964

46. Syndrome, Incontinentia Pigmenti - Medical Dictionary Definitions Of Popular Med MedicineNet Home MedTerms medical dictionary AZ List Syndrome, incontinentia pigmenti. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=5637

47. LookSmart - Directory - Incontinentia Pigmenti Or Bloch-Sulzberger Syndrome incontinentia pigmenti or BlochSulzberger Syndrome - Access resources, journal abstracts and support groups pertaining to incontinentia pigmenti or IP. http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us89134/us101

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); Home IN the directory this category YOU ARE HERE Home Personal Health Skin Conditions ... Conditions H-P Incontinentia Pigmenti or Bloch-Sulzberger Syndrome - Access resources, journal abstracts and support groups pertaining to incontinentia pigmenti or IP. Directory Listings About allRefer Health - Incontinentia Pigmenti Achromians Information Uncover the symptoms, treatment, complications, and prevention of this condition, aka hypomelanosis of ito. Call a doctor if skin exhibits an unusual pigmentary pattern. allRefer Health - Incontinentia Pigmenti Syndrome (IPS) Profiles the symptoms, treatment, risks, tests, signs, prevention, prognosis, causes, and complications of this inherited disorder, aka Bloch-Sulzberger's disease. Dept. of Dermatology University of Iowa - Incontinentia Pigmenti Features several photos of incontinentia pigmenti and its distinguishable characteristics including blisters, rashes and discolorations. Dermatology Online Journal - Incontinentia Pigmenti Histology View slide samples depicting the cellular abnormalities in patients diagnosed with IP. Includes a brief description of the rare disorder. Features of Incontinentia Pigmenti View a brief text-based listing of related features that may be evident in patients diagnosed with IP, including anomalies of the hair and skin.

48. Incontinentia Pigmenti incontinentia pigmenti. What is incontinentia pigmenti? incontinentia pigmenti (IP) is a rare, genetic disorder characterized by http://www.clevelandclinic.org/health/health-info/docs/1200/1290.asp?index=6042&

49. MedlinePlus Medical Encyclopedia: Incontinentia Pigmenti Achromians incontinentia pigmenti achromians. http://www.nlm.nih.gov/medlineplus/ency/article/001461.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Incontinentia pigmenti achromians Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Calling your health care provider Illustrations Incontinentia pigmenti - side Alternative names Return to top Hypomelanosis of Ito Definition Return to top Incontinentia pigmenti achromians is a congenital disorder that causes unusual and sometimes bizarre patterns of hypopigmented (diminished pigment) skin. Causes, incidence, and risk factors Return to top The cause of this disorder is unknown, though most patients have abnormal chromosomes. Girls are affected slightly more often than boys. Symptoms Return to top streaked, whirled or mottled areas of hypopigmentation (limbs and trunk) varying degrees of retardation seizures crossed eyes (strabismus) increased body hair ( hirsutism scoliosis Signs and tests Return to top A Wood's lamp examination of the skin lesions may help confirm the diagnosis. Your physician may also recommend chromosome analysis or a further medical workup to discover any associated medical problems.

50. MedlinePlus Medical Encyclopedia: Incontinentia Pigmenti Syndrome incontinentia pigmenti syndrome. incontinentia pigmenti syndrome (IPS) is inherited as a dominant Xlinked trait. Almost all cases http://www.nlm.nih.gov/medlineplus/ency/article/001583.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Incontinentia pigmenti syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Incontinentia pigmenti on the leg Incontinentia pigmenti on the leg Alternative names Return to top Bloch-Sulzberger's disease Definition Return to top Incontinentia pigmenti syndrome is an inherited disorder that causes unusual blistering of the skin followed by increased pigmentation. Causes, incidence, and risk factors Return to top 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

51. Short Description Of Cell Lines. Pathology: Incontinentia Pigmenti *308300 Version 4.200205, Short description of cell lines. Pathology incontinentia pigmenti *308300 OMIM record. By selecting the cell http://www.biotech.ist.unige.it/cldb/pat20.html

Version Short description of cell lines. Pathology: incontinentia pigmenti OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast PVCGU By Beatrice...

52. Incontinentia Pigmenti - Små Och Mindre Kända Handikappgrupper slutsatser. incontinentia pigmenti. Innehåll. Sjukdom/skada/diagnos. incontinentia pigmenti beskrevs första gången 1926 av Bloch. Två http://www.sos.se/smkh/1997-29-025/1997-29-025.htm

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Incontinentia pigmenti Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Databasreferenser Dokumentdatum: 2001-04-03 HTML-version 2.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Stadium 1: Stadium 2 Stadium 3 tadium 4 Diagnostik Praktiska tips Resurspersoner birgitta.bergendal@odont.ltjkpg.se Kurser, erfarenhetsutbyte, rekreation ip_patforening@hotmail.com

53. Incontinentia Pigmenti Information Diseases Database 2 synonyms or equivalents were found. incontinentia pigmenti aka/or BlochSulzberger syndrome Medical information linksincontinentia pigmenti specific sites. http://www.diseasesdatabase.com/ddb29600.htm

Diseases Database Index Sponsors Contact ... Previous Page Incontinentia pigmenti Information Search 2 synonyms or equivalents were found. Incontinentia pigmenti 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 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 i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-02 22:57:07 Metadata Updated 2004-05-22

54. Incontinentia Pigmenti incontinentia pigmenti. Dermatology Incontinencia pigmenti Dermatology Online Journal; incontinentia pigmenti; incontinentia pigmenti; Incontinentia http://www.edae.gr/incontinentia.html

HELLENIC ASSOCIATION DERMATOLOGY - VENEREOLOGY INCONTINENTIA PIGMENTI Dermatology Online Atlas (DOIA) Erlangen: Incontinentia Pigmenti Achromians Familial form of the hereditary form of incontinentia pigmenti (IP2) Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare genodermatosis that usually appears at birth or shortly thereafter. The disease is characterized by swirled patterns of hyperpigmentation which is also evident in biopsies of the streaks that show pigment within dermal macrophages ('incontinent pigment'). Associated findings include seizures, mental retardation, strabismus, cataracts, and delayed or impaired dentition. The pigmentary lesions disappear with aging owing to a selection against cells in which the mutation-bearing X chromosome is active. Fundus and Fluorescein Documentation of Hypomelanosis of Ito Tomohiro Ikeda, MD; Keiko Sato, MD; Taku Miyaura, MD Incontinencia pigmenti Dermatology Online Journal Incontinentia pigmenti Incontinentia Pigmenti Incontinentia Pigmenti - 1 Photo, Dermatology ImageBase, Dept. of Dermatology / University of Iowa Incontinentia Pigmenti - 2 Photo, Dermatology ImageBase, Dept. of Dermatology / University of Iowa

55. A To Z Encyclopedia Topic: X-linked Dominant: Incontinentia Pigmenti Genetics Program. Xlinked Dominant incontinentia pigmenti. One example of an X-linked dominant condition is called incontinentia pigmenti (IP). http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=X-linked Dominant:

56. Incontinentia Pigmenti Genomic rearrangement in NEMO impairs NFkappaB activation and is a cause of incontinentia pigmenti. The International incontinentia pigmenti (IP) Consortium. 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 Pathogenesis Laboratory/Radiologic/Other Diagnostic Testing Gross Appearance and Clinical Variants ... Internet Links EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Bloch-Sulzberger disease INCIDENCE Rare AGE RANGE-MEDIAN Newborn SEX (M:F) Most males die in utero PATHOGENESIS CHARACTERIZATION Autoimmune Many of the changes thought to be an autoimmune attack on ectodermal clones expressing an abnormal surface antigen or as premature cell death in defective ectodermal clones Immune defects

57. Incontinentia-Pigmenti.org Home Page IncontinentiaPigmenti.org. incontinentia pigmenti (IP) (Bloch-Sulzberger Syndrome). Welcome to our website. This website has been http://www.incontinentia-pigmenti.org/

Incontinentia-Pigmenti.org INCONTINENTIA PIGMENTI (IP) (Bloch-Sulzberger Syndrome) Welcome to our website This website has been developed by the Ectodermal Dysplasia Society to help people with Incontinentia Pigmenti (IP). The ectodermal dysplasias (EDs) are a group of inherited disorders that involve defects of the hair, nails, teeth and sweat glands. Depending on the particular syndrome ectodermal dysplasia (ED) can also affect the skin, the lens or retina of the eye, parts of the inner ear and other parts of the body. Incontinentia Pigmenti is an ectodermal dysplasia and is a rare genetic disorder characterised by abnormalities of the skin, hair, teeth, eyes and nails and may be linked with neurological problems in some cases. The most characteristic and diagnostic feature of this condition are skin problems which can be described in five distinct stages:- Vesicular - blistered skin rash, usually present at birth or soon after birth and disappearing by the age of 4 months Verrucous - wart-like patches on the lower limbs, usually occurs after the first stage and generally clearing up by 6 months of age

58. Incontinentia Pigmenti incontinentia pigmenti is an Xlinked dominant disorder that presents in at or soon after birth. Although the condition involves http://dermatology.cdlib.org/DOJvol4num1/path/incont2.html

DOJ Index Spanish Portuguese Answer: Incontinentia Pigmenti Figure 3 Figure 4 Skin biopsy demonstrating marked edema of the upper epidermis Epidermal spongiosis and an eosinophil-rich cellular infiltrate Histologically, there is spongiosis manifest as epidermal intercellular edema with exocytosis of numerous eosinophils and mononuclear cells both within the epidermis as well as in spongiotic foci. Dyskeratotic keratinocytes are present adjacent to spongiotic microvesicles. An interstitial infiltrate of lymphocytes and eosinophils is present in the papillary dermis. Incontinentia pigmenti is an X-linked dominant disorder that presents in at or soon after birth. Although the condition involves the skin primarily, there are a number of associated disorders including dental defects, convulsive disorders, mental retardation, ocular abnormalities and childhood neoplasms. Because it is almost always lethal in males, is observed almost exclusively in female infants. Three successive stages of the cutaneous disease have been described. The first stage is characterized by a linear, erythematous, vesiculobullous eruption on the trunk and extremities within the first 2 weeks of life.[2] Histologically, spongiosis containing numerous eosoinophils with abundant dyskeratotic keratinocytes is noted.[1,3] The second stage, the so-called verrucous stage, usually develops within a few weeks and is manifest as verrucous hyperkeratotic papules and plaques. [2] Microscopically, there is acanthosis, papillomatosis, and hyperkeratosis with abundant dyskeratotic cells, often in small whorls in the epidermis.[3] Vacuolar change of the basal layer may be noted. Finally, as lesions resolve, the hyperpigmented stage develops in which there is a whorled slate-gray to brown hyperpigmentation that usually fades with time.[2] These areas contain many melanophages in the upper dermis.[3]

59. Incontinentia Pigmenti Translate this page incontinentia pigmenti, in Arndt KA, LeBoit PE, Robinson JK, Wintroub BU(eds) Cutaneous Medicine and Surgery An Integrated Program in Dermatology. http://dermatology.cdlib.org/DOJvol4num1/path/incont2-esp.html

DOJ Index Spanish Portuguese Respuesta: Incontinencia pigmenti Figura 3 Figura 4 Biopsia de piel mostrando marcado edema en epidermis superior. Espongiosis e infiltrado rico en eosinófilos. Histológicamente se observa espongiosis con edema intercelular y exocitosis de numerosos eosinófilos y células mononucleares, tanto en la epidermis como en los focos espongióticos. Se identifican queratinocitos disqueratósicos adyacentes a las microvesículas espongióticas. En la dermis papilar se observa un infiltrado intersticial de linfocitos y eosinófilos. La incontinencia pigmenti es una enfermedad que se transmite con carácter dominante ligado al cromosoma X, y que se manifiesta en el nacimiento o poco después. Aunque afecta primariamente a la piel, existen diferentes trastornos asociados, incluyendo defectos dentales, trastornos convulsivos, retraso mental, anomalías oculares y neoplasias infantiles. Dado que suele ser letal en varones, se observa casi exclusivamente en niñas. Han sido descritos tres estadios clínicos cutáneos. El primer estadio se caracteriza por una erupción lineal, eritematosa, vesículo-ampollosa en tronco y extremidades dentro de las dos primeras semanas de vida (2). Histológicamente se observa espongiosis con numerosos eosinófilos y queratinocitos disqueratósicos (1,3). El segundo estadio, denominado verrucoso, en general se desarrolla a las pocas semanas y se manifiesta con pápulas y placas verrugosas hiperqueratósicas (2). Microscópicamente se observa acantosis, papilomatosis e hiperqueratosis con abundantes células disqueratósicas, a menudo dispuestas en remolinos en la epidermis (3). Puede observarse alteración vacuolar de la basal. Finalmente y a medida que se resuelven estas lesiones, se desarrolla el estadio pigmentario con hiperpigmentación en espirales de tonalidad grisácea a marrón que generalmente se desvanece con el tiempo (2). Estas áreas contienen abundantes melanófagos en la dermis superior (3).

60. Genetic Disorders, Incontinentia Pigmenti Submit Your Site to the incontinentia pigmenti category. Sponsored incontinentia pigmenti Sites. Submit Your Site to the incontinentia pigmenti category. http://www.iseekhealth.com/incontinentia_pigmenti-1592.php

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Genetic Disorders ... Incontinentia Pigmenti More Incontinentia Pigmenti Categories: Submit Your Site to the Incontinentia Pigmenti category Sponsored Incontinentia Pigmenti Sites Official Parent's Guide On Incontinentia Pigmenti "This book has been created for patients who have decided to make education and research an integral part of the treatment process." 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 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. 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.

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