Extractions: 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. Information on the following diseases can be found in the Related Disorders section of this report: 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. 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.
Extractions: Corner of Mayfair Gardens, London N17 7LN Tel: E-Mail: tgrant@hitsuk.freeserve.co.uk Website: www.e-fervour.com/hits HITS (UK) was fully established in February 2000 and we are currently in the process of becoming a registered charity. We can offer support by letter, e-mail, internet chat site with monthly "live chats", telephone and family days. We also produce a newsletter 3 times a year. The aim of HITS (UK) is to enrich the lives of children and families affected by Hypomelanosis of Ito by encouraging communication, facilitating the flow of information between families and health professionals, and generally reducing the sense of isolation patients and families may experience. We are a voluntary, not-for-profit organisation, and we are holding the first ever "Children of Ito" Family day on July 15th 2001. We hope to hold the 2nd Children of Ito Family day in July 2003, for more information please contact Terri Grant at
Incontinentia Pigmenti (Diagnosen) Linksammlung Bei Medinfo.de Translate this page Synonym(s) bloch-sulzberger syndrome. Defekten Link melden (Aufnahmedatum 22.07.2003). Synonyme im weiteren Sinne Bloch-Sulzberger-Syndrom, http://www.medinfo.de/index.asp?r=706&thema=Incontinentia pigmenti
CASE 4A BABY GIRL WITH LINEAR VESICLES Incontinentia Pigmenti (IP), also known as blochsulzberger syndrome, is a rare genodermatosis with X-linked dominant inheritance. http://www.med.wayne.edu/dermatology/webmichderm01/case4.htm
Extractions: CASE 4A BABY GIRL WITH LINEAR VESICLES ON THE ARMS AND THE LEGS Meena Moossavi MD, Vicky Langsam MD, George Murakawa MD PhD A one-month old Caucasian girl of normal gestation presented with an asymptomatic rash on her arms and legs that developed at birth. The rash did not respond to treatment with oral antibiotics and topical silvadene cream. There was no significant family history. Her normal older brother, sister, and mother are unaffected. The patient had multiple fluid-filled vesicles on an erythematous base distributed on the arms and legs, following the lines of Blaschko. The scalp, face and trunk were spared. The eyes were normal and the neurologic examination was age appropriate. There was no developmental delay noted. Genetic testing: pending. HISTOPATHOLOGY A biopsy from a vesicle on the thigh revealed a focus of intraepidermal vesicle formation containing numerous eosinophils. The surrounding epidermis showed eosinophilic spongiosis and occasional dyskeratotic epidermal cells. COURSE AND THERAPY The vesicular lesions resolved by three months of age and verrucous papules developed on the right foot, left leg and left chest at four months. No eye abnormalities were found on exam by the ophthalmologist. At five months, a slight developmental delay was noted by the pediatrician, and the patient was referred to pediatric neurology for further work up.
Case 7 case 7incontinentia pigmenti. Incontinentia pigmenti (IP), also known as blochsulzberger syndrome, is an X-linked dominant, monogenic disease. http://www.med.wayne.edu/dermatology/MichDerm03/case_7diagnosis.htm
Extractions: cases diagnosis/discussions case 7incontinentia pigmenti Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is an X-linked dominant, monogenic disease. Patients can present with neurologic, ophthalmologic, dental, and cutaneous findings. IP was first reported in 1906 by Garrod, and later defined clinically by Bloch and Sulzberger. The gene responsible for 80% of IP cases is NEMO/IKK- g , located on chromosome Xq28. NEMO, short for nuclear factor- k B (NF- k B) essential modulator, is a key component in NF- k B signaling pathways affecting cellular apoptosis. Almost all NEMO mutations destroy gene function, perhaps causing enhanced sensitivity to apoptosis and dysregulation of cellular homeostasis. Extracutaneous signs are also common in IP. Delayed dentition, partial anodontia, or cone-shaped teeth may occur in 80% of cases. The absence of lateral incisors and premolars in unaffected siblings and mothers can be a clue to the diagnosis. 30% of patients demonstrate retinal pigment epitheliopathy, and this is believed to cause other ocular findings like cataracts, leukocoria, optic atrophy, strabismus, and microphthalmos. Neurologic problems include seizures, developmental delay, mental retardation, ataxia, spasticity, microcephaly, and hypoplasia of the corpus callosum. Associated cardiac abnormalities, dwarfism, spina bifida, and hemiatrophy have been described. The histopathology of IP is most specific in stage 1, which manifests as spongiotic eosinophil-filled epidermal vesicles. In stage 2, acanthosis, papillomatosis, and hyperkeratosis with dyskeratotic keratinocytes are visualized. The hyperpigmented lesions of stage 3 and the hypopigmented lesions of stage 4 exhibit nonspecific histologic findings. Moreover, the presence of eosinophils in vesicular lesions, brain tissue, and peripheral blood suggests a possible immunologic reaction to an abnormal protein expressed by the mutated gene during early life. Referrals to genetics, dentistry, ophthalmology, and neurology are key for evaluation for extracutaneous manifestations.
Magnetic Resonance Findings Of Central Nervous System ABSTRACT. Incontinentia pigmenti, or blochsulzberger syndrome is a rare neurocutaneous disease. The clinical manifestations begin at or shortly after birth. http://www.rsroc.org.tw/English/Ejournal/article/V25/N1/A5/A5.htm
Penn State Faculty Research Expertise Database (FRED) Related Terms, blochsulzberger syndrome, Bloch Sulzberger Syndrome. Syndrome, Bloch-Sulzberger, Faculty Experts, Faculty Experts of Child Terms, http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D007184
Early On s Disease; WerdnigHoffman Syndrome. Encephalocele Neurocutaneous Disorders bloch-sulzberger syndrome; Neurofibromatosis; Sturge-Weber http://www.ingham.k12.mi.us/page.cfm?p=309
List Of Neurological Disorders - Wikipedia, The Free Encyclopedia Blepharospasm; blochsulzberger syndrome; Brachial plexus injury; Brain abscess; Brain injury; Brain tumor; Spinal tumor; Brown-Sequard syndrome. C http://www.phatnav.com/wiki/wiki.phtml?title=List_of_neurological_disorders
Incontinentia Pigmenti This Web resource on incontinentia pigmenti (also known as blochsulzberger syndrome) is produced by the National Institute of Neurological Disorders and http://omni.ac.uk/browse/mesh/C0021171L0021171.html
Extractions: low graphics broader: Abnormalities, Multiple Skin Abnormalities other: Alagille Syndrome Angelman Syndrome Beckwith-Wiedemann Syndrome Branchio-Oto-Renal Syndrome ... NINDS : incontinentia pigmenti information page This Web resource on incontinentia pigmenti (also known as Bloch-Sulzberger Syndrome) is produced by the National Institute of Neurological Disorders and Stroke (NINDS). A description of incontinentia pigmenti is provided, and available treatments, prognosis, and current research activities are all discussed. Links to related organisations are provided. This resource has a US focus. Patient Education Handout [Publication Type] Incontinentia Pigmenti
Part 29. Disorders Of The Eye - KMLE: ¼Ò¾Æ°ú ³Ú½¼(Nelson) Á¤¸®Áý medulloepithelioma, massive retinal gliosis, retinal pseudotumor of Norrie disease, pseudoglioma of the blochsulzberger syndrome, retinal dysplasia, retinal http://www.kmle.co.kr/nelsonview.php?view=Part 29. Disorders of The Eye.htm
Extractions: (Bloch-Siemens Incontinentia Pigmenti Melanoblastosis Cutis Linearis; Bloch-Siemens-Sulzberger Syndrome; Bloch-Sulzberger Syndrome; Pigmented Dermatosis, Siemens-Bloch type) Revised and Updated for the Internet Age P A P E R B A C K Paperback Book Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Paperback Book Shipped in 3 to 5 business days E B O O K Electronic File * E-Book version sent via e-mail in 2 business days Electronic File *E-Book version sent via e-mail in 2 business days Pages Price $28.95(USD) ISBN Published Synopsis A comprehensive manual for anyone interested in self-directed research on Incontinentia Pigmenti. Fully referenced with ample Internet listings and glossary. Related Conditions/Synonyms Bloch-Siemens Incontinentia Pigmenti Melanoblastosis Cutis Linearis; Bloch-Siemens-Sulzberger Syndrome; Bloch-Sulzberger Syndrome; Pigmented Dermatosis, Siemens-Bloch type Description Table of Contents Introduction Overview Organization Scope Moving Forward PART I: THE ESSENTIALS Chapter 1. The Essentials on Incontinentia Pigmenti: Guidelines
Search By Disease 56 Blepharophimosis, epicanthus inversus and ptosis (BPES). 57 blochsulzberger syndrome. 58 Blood groupRhesus system Cc/Ee polypeptide. http://www.eddnal.com/directory/disease.php?letter=B&page=4
Blackwell Synergy - Cookie Absent The characteristic dentition of incontinentia pigmenti (blochsulzberger syndrome) a diagnostic aid. Incontinentia pigmenti (bloch-sulzberger syndrome). http://www.blackwell-synergy.com/links/doi/10.1111/j.1525-1470.2003.20607.x/full
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SLCentral Directory - Health - Conditions And Diseases - B Birthmarks@ (10); Bites and Stings@ (30); Blastomycosis@ (7); Blepharospasm@ (10); Blindness@ (94); blochsulzberger syndrome@ (7); Blood http://www.slcentral.com/directory/index.php/Health/Conditions_and_Diseases/B/
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Conditions And Diseases - Incontinentia Pigmenti Top Links Incontinentia Pigmenti Web Site Links. National Library of Medicine bloch-sulzberger syndrome, the synonyms, a summary and major features. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso
BJO -- Abstracts: Spallone 71 (8): 629 71, 629634. ORIGINAL ARTICLES. Incontinentia pigmenti (bloch-sulzberger syndrome) seven case reports from one family. A Spallone St http://www.bjophthalmol.com/cgi/content/abstract/71/8/629
Extractions: St Gerardo Hospital, Department of Ophthalmology, Monza, Milan, Italy. Seven members from a large family who showed signs of incontinentia pigmenti were examined. A clear X-linked dominant transmission was demonstrated, lethal in males. Study of this family shows that vascular abnormalities of the retina and disorders of the retinal pigment epithelium are the most important ocular lesions in the Bloch- Sulzberger syndrome.
SearchBug Directory: Health: Conditions_and_Diseases: B Bipolar Disorder in Children (36) Birthmarks (10) Bites and Stings (32) Blastomycosis (7) Blepharospasm (10) Blindness (99) blochsulzberger syndrome (7) Blood http://www.searchbug.com/directory.aspx/Health/Conditions_and_Diseases/B/
