21. Incontinentia-Pigmenti.org Home Page IncontinentiaPigmenti.org. incontinentia pigmenti (IP) (Bloch-SulzbergerSyndrome). 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

22. Incontinentia Pigmenti Genomic rearrangement in NEMO impairs NFkappaB activation and is a cause of incontinentiapigmenti. 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

23. EMedicine - Incontinentia Pigmenti : Article By Celia H Chang, MD incontinentia pigmenti incontinentia pigmenti type 2, also known as Bloch-Sulzbergersyndrome, is a rare, X-linked, dominantly inherited disorder of skin http://www.emedicine.com/neuro/topic169.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Incontinentia Pigmenti Last Updated: February 8, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: Bloch-Sulzberger syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Celia H Chang, MD , Assistant Professor, Department of Neurology, University of California at Davis Celia H Chang, MD, is a member of the following medical societies: American Academy of Neurology, and Child Neurology Society Editor(s): David Griesemer, MD , Chairman of Neurology, Associate Professor, Departments of Pediatrics and Neurology, Medical University of South Carolina; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, Pharmacy, eMedicine; Kenneth J Mack, MD, PhD , Senior Associate Consultant, Child and Adolescent Neurology, Mayo Clinic; Matthew J Baker, MD

24. EMedicine - Incontinentia Pigmenti : Article By Takuo Tsuji, MD incontinentia pigmenti incontinentia pigmenti (IP), sometimes termed Bloch-Sulzbergersyndrome, is an X-linked dominant single-gene disorder with neurologic http://www.emedicine.com/derm/topic698.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Incontinentia Pigmenti Last Updated: April 5, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: IP, Bloch-Sulzberger syndrome, Bloch-Siemens syndrome, familial incontinentia pigmenti, IP2 AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: Takuo Tsuji, MD , Chairman, Professor, Department of Dermatology, Nagoya City University, Japan Editor(s): Bernice R Krafchik, MB, ChB , Head, Section of Dermatology, University of Toronto; Professor, Department of Pediatrics, Hospital for Sick Children, Canada; David F Butler, MD , Interim Chair, Professor, Department of Dermatology, Texas Tech University Health Sciences Center; Robert A Schwartz, MD, MPH , Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School; Joel M Gelfand, MD

25. Incontinentia Pigmenti (IP) (xrts28.htm) incontinentia pigmenti (IP) (BlochSulzberger syndrome). by. How commonis IP? incontinentia pigmenti is a rare condition, affecting girls. http://www.ectodermaldysplasia.org/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.

26. EDS: News (December 02) - New Incontinentia Pigmenti Site (xews16.htm) News (December 02) New incontinentia pigmenti site. The Society has purchasedtwo domains incontinentia-pigmenti.org and incontinentia-pigmenti.com. http://www.ectodermaldysplasia.org/xews16.htm

News (December 02) - New Incontinentia Pigmenti site The Society has purchased two domains: incontinentia-pigmenti.org and incontinentia-pigmenti.com. We are the support group for people with IP in the UK and to help people find us we have developed a simple website which will direct them to this site. In due course we register with search engines but our domain name itself should enable people to find us. This site is now up and running and can be found by using either domain names although the site is actually located at www.incontinentia-pigmenti.org This site has also been modified by providing a link to a page summarising all the information we have on IP. This information is also highlighted by using an IP icon (icon only used on frames version). Return to News Index Return to Home Page

27. Incontinentia Pigmenti incontinentia pigmenti. Sultan AlKhenaizan, MBBS, FRCPC. The diagnosis of incontinentiapigmenti was made. CT scan and MRI of the brain revealed no abnormality. http://www.kfshrc.edu.sa/annals/205_206/00-070.htm

Incontinentia Pigmenti Sultan Al-Khenaizan, MBBS, FRCPC Incontinentia pigmenti (IP) is an X-linked dominant (XLD) disorder that was first described in 1906 by Garrod, and subsequently named after Bloch and Sulzberger. The skin lesions in IP follow four well-characterized successive stages: vesicular, verrucous, whorl or streak-like hyperpigmentation, and hypopigmented scars. Skin appendages, including hair and teeth are commonly affected in IP, with scarring alopecia and peg-shaped teeth. IP also affects many other body systems, most commonly the central nervous system (CNS) and the eyes. Almost all patients with IP are females because of the lethality of the disease in males. Case Report From the Department of Medicine, King Fahad National Guard Hospital, Riyadh, Saudi Arabia. leaving no marks. The rest of the physical examination was unremarkable. Skin examination of the mother revealed multiple white, hypopigmented atrophic swirls and streaks along the Blaschko lines. Mouth examination revealed hypodontia and conical widely spaced teeth. The diagnosis of incontinentia pigmenti was made. CT scan and MRI of the brain revealed no abnormality. Electroencephalogram study was normal and there were no more seizures. The infant was discharged home in good condition on oral phenobarbitol. At three months' follow-up, the pigmentation had extended to most of the lower extremities and sides of the trunk (Figure 1), with no other skin changes. Neurological examination by the neurologist was normal.

28. Incontinentia Pigmenti Articles, Support Groups, And Resources incontinentia pigmenti articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). incontinentia pigmenti. http://www.medhelp.org/HealthTopics/Incontinentia_Pigmenti.html

[Health Topics A-Z] A B C D ... Z Incontinentia Pigmenti Support Groups: National Incontinentia Pigmenti Foundation [Med Help Home] [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

29. Incontinentia Pigmenti : Arborescences MeSH Translate this page incontinentia pigmenti. ichtyose liée sexe C16.320.850.408 page CISMeF dumotclef incontinentia pigmenti C16.320.850.420 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/naviincontinentiapigmenti.html

Incontinentia Pigmenti : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies et malformations congénitales, héréditaires et néonatales maladies génétiques congénitales dermatoses héréditaires albinisme ... xeroderma pigmentosum 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

30. 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

31. MEDLINEplus Medical Encyclopedia: Incontinentia Pigmenti Syndrome incontinentia pigmenti syndrome. http://www.nlm.nih.gov/medlineplus/ency/article/001583.htm

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 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

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

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 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. Treatment Return to top There is no treatment for the hypopigmentation . Treatment consists of treating the symptoms. Cosmetics or clothing may be used to cover the hypopigmented spots if desired. Seizures scoliosis , and other problems are treated as necessary.

33. ORPHANET® : Incontinentia Pigmenti Translate this page ORPHANET. ORPHANET database access. incontinentia pigmenti.Direct access to details Alias Home Page. http://www.orpha.net/static/GB/incontinentia_pigmenti.html

ORPHANET database access Incontinentia pigmenti Direct access to details Alias : Home Page

34. ORPHANET® : Incontinentia Pigmenti Translate this page ORPHANET. Accès à la base de données ORPHANET. Incontinentiapigmenti. Accès direct aux détails Alias Page d'accueil. http://www.orpha.net/static/FR/incontinentia_pigmenti.html

Accès à la base de données ORPHANET Incontinentia pigmenti Accès direct aux détails Alias : Page d'accueil

35. CMGS-Incontinentia Pigmenti/13.2.01 incontinentia pigmenti (IP) – Gene Identification. Genomic Rearrangement inNEMO impairs NFk B activation and is a cause of incontinentia pigmenti . 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

36. Incontinentia Pigmenti HOME incontinentia pigmenti (IP, BlochSulzberger Syndrome, Bloch-SiemensSyndrome). Short description of cell lines. Pathology incontinentia http://www.bdid.com/ip.htm

HOME Incontinentia Pigmenti (IP, Bloch-Sulzberger Syndrome, Bloch-Siemens Syndrome) Short description of cell lines. Pathology: incontinentia pigmenti Incontinentia Pigmenti Achromians (Includes Photo) Incontinentia Pigmenti Trisomy 7 mosaicism associated with carbohydrate-deficient glycoprotein syndrome and incontinentia pigmenti phenotype Counselling in Incontinentia Pigmenti (IP2) families: useful information from X-inactivation studies Neonatal Incontinentia Pigmenti in an affected male within a normal family ... Incontinentia pigmenti (Includes Skin Biopsy) Nutrition - Incontinentia Pigmenti Incontinentia Pigmenti incontinentia pigmenti information sheet INCONTINENTIA PIGMENTI; IP ... Incontinentia Pigmenti (Includes Photo) Achromians (Hypomelanosis of Ito, Ito Hypomelanosis) HYPOMELANOSIS OF ITO; HMI HOME

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

38. INCONTINENTIA PIGMENTI 97 incontinentia pigmenti. DEFINITION Syndromes. p. 196197. (1996).INTERNET LINKS National incontinentia pigmenti Foundation. http://www.icondata.com/health/pedbase/files/INCONTIN.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 9/03/97 INCONTINENTIA PIGMENTI DEFINITION: A neurocutaneous syndrome characterized by cutaneous, neurologic (neonatal seizures), and ocular manifestations. EPIDEMIOLOGY: incidence: over 700 cases reported age of onset: first few weeks of life risk factors: familial - x-linked dominant chrom.#: Xq28 (familial type); Xp11.21-cen. (IP1) gene: ? F > M (20:1) lethal in males PATHOGENESIS: 1. Background first described by M. Bardach in 1925 also called Bloch-Sulzberger Syndrome or Disease is considered a disorder of the ectoderm involving multiple systems (i.e., skin, eyes, teeth, hair, bone, nervous system) CLINICAL FEATURES: 1. Cutaneous Manifestations - 4 phases 1. Vesicular Phase begins at birth or within the first few weeks of life linear, erythematous (red) streaks with plaques of vesicles which are replaced by bullae (blisters) lesions appear on the limbs and around the trunk this phase usually resolves by 4 months of age but blisters may develop during fevers throughout childhood 2. Verrucous Phase

39. NINDS Incontinentia Pigmenti Information Page incontinentia pigmenti information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). What is incontinentia pigmenti? http://accessible.ninds.nih.gov/health_and_medical/disorders/inconpig_doc.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Incontinentia Pigmenti Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Incontinentia Pigmenti Information Page Synonym(s): Bloch-Sulzberger Syndrome Reviewed 11-02-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Incontinentia Pigmenti? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Incontinentia Pigmenti? Is there any treatment?

40. The Consequences Of Incontinentia Pigmenti nature cell biology doi10.1038/35019623 august 2000 volume 2 issue8 p E144 The consequences of incontinentia pigmenti Sarah Greaves, http://www.nature.com/cgi-taf/DynaPage.taf?file=/ncb/journal/v2/n8/full/ncb0800_

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