Bloch-Sulzberger Syndrome Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. View the Full Record. Syndrome, blochsulzberger syndrome. Synonyms, Asboe-Hansen disease. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome067.html
Extractions: Syndrome Bloch-Sulzberger syndrome Synonyms Asboe-Hansen disease Bloch-Siemens syndrome Bloch-Sulzberger melanoblastoma Siemens-Bloch pigmented dermatosis incontinentia pigmenti (IP) incontinentia pigmenti 1 melanoblastosis cutis linearis sive systematisata melanosis corii degenerativa nevus pigmentosus systematicus Summary A skin pigmentation disorder with malformations of the eyes, teeth, bones, nails, heart, central nervous system, and hair. Mental deficiency is usually associated. The syndrome is divided into two forms: Incontinentia pigmenti type I and type II which lethal in males. Major Features Head and neck: Microcephaly. Eyes: Ocular abnormalities are present in about one-third of all cases. They include strabismus, cataracts, optic atrophy, retrolental fibroplasia, pseudoglioma, retinal detachment, myopia, blue sclerae, nystagmus, microphthalmos, retinal telangiectasia, ophthalmia, and pigmentation disorders of the conjunctiva, iris, retina, and oculomotor paralysis. Thorax: Supernumerary ribs, unilateral breast aplasia, and supernumerary nipples.
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?
EMedicine - Incontinentia Pigmenti : Article By Celia H Chang, MD Incontinentia Pigmenti Incontinentia pigmenti type 2, also known as bloch-sulzberger syndrome, is a rare, X-linked, dominantly inherited disorder of skin pigmentation that often is associated http://www.emedicine.com/neuro/topic169.htm
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology 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, Department of Child and Adolescent Neurology, Mayo Clinic;
Bloch-Sulzberger Pigment Dermatosis (Bruno Bloch) (www.whonamedit.com) BlochSulzberger pigment dermatosis (Bruno Bloch) A complex congenital disturbance characterized by bizarre, widespread pigmented macules of unusual shapes and defects of teeth, eyes, nails, Bloch) Bloch-Siemens syndrome (Bruno Bloch) Bloch-Sulzberger disease (Bruno Bloch) Bloch-Sulzberger melanoblastosis review of the bloch-sulzberger syndrome was provided by Landy http://www.whonamedit.com/synd.cfm/1762.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A complex congenital disturbance that occurs almost exclusively in newborn girls (95 %), characterized by bizarre, widespread pigmented macules of unusual shapes; and defects of teeth, eyes, nails, central nervous system and hair. Long lists of other symptoms includes retarded growth and mental retardation. Inheritance is X-linked dominant. It is usually lethal in males, who are probably the result of spontaneous mutations.
Syndrome DB - Table Of Contents blepharophimosisepicanthus inversus-telecanthus syndrome Bloch-Siemens syndrome Bloch-Sulzberger melanoblastoma bloch-sulzberger syndrome Bohring syndrome http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_b.html
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
Dictionary Definition Of BLOCH-SULZBERGER SYNDROME Dictionary definition of blochsulzberger syndrome. Medical dictionary. The ip sons die before birth. Ip is also known as bloch-sulzberger syndrome. http://www.dictionarybarn.com/BLOCHSULZBERGER-SYNDROME.php
Extractions: 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 1/3rd 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.
Extractions: Web Directory: 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.
Karger Publishers Background Incontinentia pigmenti (IP; blochsulzberger syndrome) is an inherited disorder of skin pigmentation that is associated with skin (100%), dental (90 http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowAbstract&ProduktNr=
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: IP, Bloch-Sulzberger syndrome, Bloch-Siemens syndrome, familial incontinentia pigmenti, IP2 Background: Incontinentia pigmenti (IP), sometimes termed Bloch-Sulzberger syndrome, is an X-linked dominant single-gene disorder with neurologic, ophthalmologic, and dental involvement, as well as cutaneous findings. In 1906, Garrod probably reported the first case of IP and described it as a peculiar pigmentation of the skin in an infant. Subsequently, Bloch and Sulzberger further defined the condition as a clinical syndrome with a constellation of unique features, which include typical cutaneous lesions. Since then, a large number of small series and individual case reports have been published. Pathophysiology: IP is a disorder characterized by abnormalities of the tissues and organs derived from the ectoderm and neuroectoderm. The locus for IP is genetically linked to the factor VIII gene on chromosome band Xq28. Recently, Aradhya et al demonstrated that mutations in NEMO/IKK g , which encodes a critical component of the nuclear factor- k B (NF- k B) signaling pathway, are responsible for IP (Aradhya, 2001). Virtually all mutations eliminate the production of NF-
Incontinentia Pigmenti pigmenti (IP2) Incontinentia pigmenti, also known as blochsulzberger syndrome, is a rare 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
Extractions: HELLENIC ASSOCIATION DERMATOLOGY - VENEREOLOGY DERMATOLOGY DISEASES G. Karakatsanis, Dermatologist Acne Acrodermatitis Acrokeratosis Neoplastica (Bazex Syndrome) Adamantiades - Behcet`s syndrome ... Hyperhidrosis (excessive sweating) Ichthyosis Impetigo Impotence -Erectile Dysfuction Incontinentia pigmenti (Bloch-Sulzberger syndrome) ... Linear IgA dermatosis Livedo racemosa ( Sneddon`s syndrome Lupus Lyell`s Syndrome Lyme disease ... Skin Cancer ( Non Melanoma ) Sneddon`s syndrome Livedo racemosa) Sporotrichosis Squamous Cell Carcinoma Stevens Johnson Syndrome Syphilis ... Xeroderma Pigmentosum Miscellaneous 1992 Merck Manual Dermatologic Disorders About Skin Diseases Adult Health Advisor English Index For Patients - YourHealth.com Advances in Skin Infections Therapy AIDS Education Global Information System All Diseases The following is a list of all the diseases described in the GeneClinics database. To access a disease description, click once on the title. 2000, University of Washington, Seattle An Introduction to Basic Dermatology by Warren Piette, MD, University of Iowa
BDJ Incontinentia Pigmenti. 6 Cases Of Bloch-Sulzberger Syndrome 6, pages 195196. doi 10.1038/sj.bdj.4804779 Help. Incontinentia pigmenti. 6 cases of bloch-sulzberger syndrome. Burgess, MC. Abstract. No abstract available. http://www.nature.com/cgi-taf/dynapage.taf?file=/bdj/journal/v152/n6/abs/4804779
Disease Directory : Genetic Disorders : Incontinentia Pigmenti Incontinentia Pigmenti Incontinentia pigmenti type 2, also known as bloch-sulzberger syndrome, is a rare, X-linked, dominantly inherited disorder of skin; http://www.diseasedirectory.net/Genetic_Disorders/Incontinentia_Pigmenti/default
Extractions: Ablepharon-Macrostomia Syndrome ... Genetic Disorders : Incontinentia Pigmenti AllRefer Health - Incontinentia Pigmenti Syndrome (Bloch ... - Incontinentia Pigmenti Syndrome (Bloch-Sulzberger's Disease) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk eMedicine - Incontinentia Pigmenti : Article by Celia H Chang, MD - Incontinentia Pigmenti - Incontinentia pigmenti type 2, also known as Bloch-Sulzberger syndrome, is a rare, X-linked, dominantly inherited disorder of skin eMedicine - Incontinentia Pigmenti : Article by Takuo Tsuji, MD - Incontinentia Pigmenti - Incontinentia pigmenti (IP), sometimes termed Bloch-Sulzberger syndrome, is an X-linked dominant single-gene disorder with neurologic GeneReviews: Incontinentia Pigmenti - Your browser does not support HTML frames so you must view Incontinentia Pigmenti in a slightly less readable form. Please follow this link to do so. Geometry.Net - Health_Conditions: Incontinentia Pigmenti - Incontinentia Pigmenti: more detail. incontinentia pigmenti. Incontinentia Eisenhauer O'Brien J. IncontinentiaPigmenti A longitudinal study. AJDC 139 711712. INCONTINENTIA PIGMENTI - INCONTINENTIA PIGMENTI Prof. Camillo O L'Incontinentia Pigmenti nella sua forma acromizzante ¨ detta "Malattia di Ito". L'Incontinentia
NINDS - Health And Medical Benign Focal Amyotrophy Benign Intracranial Hypertension BernhardtRoth Syndrome Binswanger s Disease Blepharospasm bloch-sulzberger syndrome Brachial Plexus http://www.ninds.nih.gov/health_and_medical/research.htm
