Incontinentia Pigmenti (IP2) Incontinentia pigmenti, also known as blochsulzberger syndrome, is arare genodermatosis that usually appears at birth or shortly thereafter. http://www.edae.gr/incontinentia.html
Extractions: 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
Incontinentia Pigmenti (IP) (arts28.htm) (blochsulzberger syndrome). by. Dr Helen Stewart Consultant in Clinical GeneticsChurchill Hospital, Oxford, UK. How common is IP? http://www.ectodermaldysplasia.org/arts28.htm
Extractions: Churchill Hospital, Oxford, UK Incontinentia Pigmenti is a rare condition, affecting girls. Only in exceptional circumstances does it affect boys. IP affects many parts of the body. It can affect different people to different degrees. 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.
Incontinentia Pigmenti blochsulzberger syndrome. Incontinentia pigmenti, familial male-lethal type Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=161
Syndrome, Bloch-Sulzberger - Talk Medical Humanfriendly medical definition of Syndrome, Bloch-Sulzberger. http://www.talkmedical.com/medical-dictionary/13750/Syndrome-Bloch-Sulzberger
Extractions: Tell a friend Syndrome, Bloch-Sulzberger: Also known as incontinentia pigmenti (IP). A genetic disease with blisters that develop soon after birth on the trunk and limbs, then heal, but leave dark (hyperpigmented) streaks and marble-like whorls on the skin. (The name came from the erroneous idea that the skin cells were incontinent of pigment and could not contain it normally.) Other key features of IP include dental and nail abnormalities, bald patches, and (in about 1/3 rd of cases) mental retardation. IP is an X-linked dominant with male lethality. The IP gene is in band q28 on the X chromosome. Mothers with IP have an equal chance of having a normal or IP daughter or a normal son. The IP sons die before birth. IP is also known as Bloch-Sulzberger syndrome. Print this page About Talk Medical Help Contact Us ... Terms and Conditions
Syndrome, Incontinentia Pigmenti - Talk Medical This phenomenon is termed nonrandom (or skewed) X-chromosome inactivation.IP is also known as bloch-sulzberger syndrome. Print this page http://www.talkmedical.com/medical-dictionary/13817/Syndrome-Incontinentia-Pigme
Extractions: Tell a friend Syndrome, incontinentia pigmenti: A genetic disease that begins soon after birth with the development of blisters on the trunk and limbs. These blisters then heal, but leave dark hyperpigmented streaks and marble-like whorls on the skin. Other key features include dental and nail abnormalities, bald patches and, in about one-third of cases, mental retardation. Incontinentia pigmenti (IP) is inherited as an X-linked dominant trait. The gene for IP is called IKBKG. A girl with IP has inherited the IKBKG mutation from a parent or has a new IKBKG mutation. IP is lethal in most, but not all, males. Mothers with IP have an equal chance of having a normal son, a normal daughter, and an IP daughter. Females with IP have nonrandom X-chromosome inactivation. Normally, one X chromosome in each cell of a female is randomly inactivated. In females with certain X-linked conditions, including IP, the X chromosome with the mutant allele is preferentially inactivated. This phenomenon is termed non-random (or skewed) X-chromosome inactivation. IP is also known as Bloch-Sulzberger syndrome.
Entrez PubMed BACKGROUND Incontinentia pigmenti (IP; blochsulzberger syndrome) is an inheriteddisorder of skin pigmentation that is associated with skin (100%), http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9
Entrez PubMed BACKGROUND Incontinentia pigmenti (IP; blochsulzberger syndrome) is an inheriteddisorder of skin http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9
Extractions: The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist. What is the prognosis?
About IP blochsulzberger syndrome is another name commonly used for IP. Other namesare Bloch-Siemens incontinentia pigmenti, melanoblastosis cutis linearis, http://imgen.bcm.tmc.edu/IPIF/nipfchar.htm
Extractions: Tel: 212 452-1231 Fax: 212 452-1406 E-Mail: ipif@ipif.org Web Site: http://imgen.bcm.tmc.edu/IPIF by an international consortium of investigators supported by IPIF Link to Gene News return to table of contents Incontinentia Pigmenti (IP) is a genetic disease of the skin, hair, teeth and central nervous system. The condition was named because of the way the skin looks under the microscope. It was initially described in 1906 by Garrod, 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 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. This discussion covers what is currently known or suspected about the disease but is not conclusive or complete. This information was taken in part from an article by Landy and Donnai, entitled "Incontinentia pigmenti (Bloch-Sulzberger syndrome)" in the Journal of Medical Genetics, 1993, pages 53-59. Medical vocabulary often can be confusing and misleading, so we recommend that parents and patients may wish to acquire a standard medical dictionary. These are available in the reference sections of most large bookstores. In general, medical writing tends to be as inclusive as possible. Therefore, descriptions of diseases or prognoses are frequently stated as "worst-case " situations. Remember that every sign, symptom, or finding is not found in every patient. Parents and patients should be selective and should interpret the information in light of their own situation(s).
IP Reference List 109 An Electron Microscopical Study of blochsulzberger syndrome 48 IncontinentiaPigmenti (bloch-sulzberger syndrome) Report of a Negro Infant with http://imgen.bcm.tmc.edu/IPIF/NIPFrefs2.htm
Extractions: Tel: 212 452-1231 Fax: 212 452-1406 E-Mail: ipif@ipif.org Web Site: http://imgen.bcm.tmc.edu/IPIF return to table of contents updated September 2002 Articles may be ordered from the National Incontinentia Pigmenti Foundation at no charge (numbers preceding articles are IPIF reference numbers for ordering) Click here to Search Medline for "Incontinentia Pigmenti" Articles written in languages other than English are listed at the end: Czech Danish Dutch French ... Swedish ENGLISH 1684 "Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology" Alexander L. Berlin, MD, Amy S. Paller, MD, Lawrence S. Chan, MD; JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY 2002 August; Vol. 47 (2Pt1) 169-87 18pp 1662 "Expression of eotaxim, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti" S. Jean-Baptists, E.A.O'Toole, M. Chen, J. Guitart, A. Paller, L.S.Chan; CLINICAL AND EXPERIMENTAL IMMUNOLOGY 2002 March Vol 127 (3) 470-8 9pp 1653 "Osteopetrosis, Lymphedema, Anhidrotic Ectodermal dysplasia, and Immunodeficiency in a Boy and Incontinentia Pigmenti in His Mother"
Portal Toolkit Invalid Site URL Incontinentia pigmenti (IP) (blochsulzberger syndrome) is a complex X-linked Landy SJ, Donnai D. Incontinentia pigmenti (bloch-sulzberger syndrome). http://ppv.ovid.com/pt/re/aujd/fulltext.00000936-200302000-00014.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 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
Birth Disorder Information Directory - BA-BL blochsulzberger syndrome. See Incontinentia Pigmenti. Blomstrand Syndrome (Dwarfism,Lethal Type, with Advanced Bone Age) http://www.bdid.com/defectba.htm
Extractions: HOME B-K Mole Syndrome Bader Syndrome (Odontomatosis Aortae Oesophagus Stenosis, Odontoma Dysphagia Syndrome) BADS Syndrome Baelz Syndrome (Cheilitis Glandularis) Bagatelle Cassidy Syndrome (Macrocephaly Short Limbs Deafness) Bahemuka Brown Syndrome (Spastic Paraplegia Facial Cutaneous Lesions) Baker Vinters Syndrome (Hydrocephalus Craniosynostosis Bifid Nose) Ballard Syndrome (Brachydactyly, Combined B and E Types; Pitt Williams Brachydactyly) Baller Gerold Syndrome Ballinger Wallace Syndrome (Diabetes-Deafness Syndrome, Maternally Transmitted; Diabetes Mellitus, Noninsulin-Dependent/Type II, with Deafness) Bamboo Hair Syndrome Bamforth Syndrome (Hypothyroidism, Athyroidal, with Spiky Hair and Cleft Palate)
Extractions: Vol. 112 No. 4, April 1976 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Carney RG Articles that cite this article Contact me when this article is cited R. G. Carney Incontinentia pigmenti (Bloch-Sulzberger syndrome) is an uncommon genodermatosis that usually affects female infants. I reviewed 464 references from the world literature and found 653 apparently valid reports of patients with incontinentia pigmenti. Skin manifestations were found to be somewhat more common than previously reported, and systemic manifestations were found in 79.8% of the patients.
List Of Neurological Disorders: Information From Answers.com Blepharospasm; blochsulzberger syndrome; Brachial plexus injury; Brain abscess Brain injury Brain tumor Spinal tumor Brown-Sequard syndrome http://www.answers.com/topic/list-of-neurological-disorders
Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping List of neurological disorders Wikipedia List of neurological disorders This is a list of major and frequently observed neurological disorders (e.g. Alzheimer's disease ), symptoms (e.g. back pain ), signs (e.g. aphasia ) and syndromes (e.g. Aicardi syndrome Contents: Top A B C ... Z Canavan disease Carpal tunnel syndrome (CTS) Causalgia Central pain syndrome Central pontine myelinolysis Cephalic disorder Cerebral aneurysm Cerebral arteriosclerosis Cerebral atrophy Cerebral gigantism Cerebral palsy Charcot-Marie-Tooth disease Chiari malformation Chorea Chronic inflammatory demyelinating polyneuropathy
Extractions: Surgical Procedures This is a list of major and frequently observed neurological disorders (e.g. Alzheimer's disease ), symptoms (e.g. back pain ), signs (e.g. aphasia ) and syndromes (e.g. Aicardi syndrome). A B C D ... Z Canavan disease Carpal tunnel syndrome CTS Causalgia Central pain syndrome Central pontine myelinolysis Cephalic disorder Cerebral aneurysm Cerebral arteriosclerosis Cerebral atrophy
