1. Bloch-Sulzberger Syndrome bloch-sulzberger syndrome, the synonyms, a summary and major features.Category Health Conditions and Diseases Incontinentia Pigmenti......Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. View the FullRecord Syndrome, blochsulzberger syndrome. Synonyms, Asboe-Hansen disease. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome067.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record 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.

2. Syndrome DB - Table Of Contents blepharophimosisepicanthus inversus-telecanthus syndrome Bloch-Siemens syndromeBloch-Sulzberger melanoblastoma bloch-sulzberger syndrome Bohring syndrome http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_b.html

Multiple Congenital Anomaly/Mental Retardation Syndromes Table of Contents Return to Entry Page A B C ... Z B Baller-Gerold syndrome (BGS) Bannayan syndrome Bannayan-Riley-Ruvalcaba syndrome (BRRS) Bannayan-Zonana syndrome (BZS) ... U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 20 November 2001

3. Bloch-Sulzberger Pigment Dermatosis (Bruno Bloch) (www.whonamedit.com) Xchromosome. An extensive review of the bloch-sulzberger syndromewas provided by Landy and Donnai in 1993. Bruno Bloch describes http://www.whonamedit.com/synd.cfm/1762.html

Home List categories Eponyms A-Z Biographies by country ... Contact Bloch-Sulzberger pigment dermatosis (Bruno Bloch) Also known as: Asboe=Hansen's disease (Bruno Bloch) Bloch-Siemens syndrome (Bruno Bloch) Bloch-Sulzberger disease (Bruno Bloch) Bloch-Sulzberger melanoblastosis (Bruno Bloch) Siemens-Bloch pigmented dermatosis (Bruno Bloch) Siemens-Bloch-Sulzberger disease (Bruno Bloch) Synonyms: Incontinentia pigmenti, melanoblastosis cutis linearis sive systematisata (Carol and Bour), melanosis corii degenerativa (Siemens), naevus pigmentosus systematicus. Associated persons: Gustav Asboe-Hansen Bruno Bloch Herman Werner Siemens Marion Baldur Sulzberger Description: 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. The delineation of incontinentia pigmenti can be attributed to Sir Archibald Edward Garrod (1857-1936) who in 1906 wrote an account of a mentally retarded girl with tetraplegia and the characteristic skin pigmentation. In 1925 M. Bardach described the skin manifestations, as did Lechtleuthner that same year. Bloch in 1926 and Sulzberger in 1928 described a peculiar ectodermal and mesodermal defect that occurs in infants, characterized by a bullous eruption followed by pigmentation. In 1929 another publication appeared by Siemens, who in 1925 was the first to observe the case described by Lechtleuthner. In 1989 Sefiani and colleagues succeeded in assigning the locus of the faulty gene to band 28 of the long arm of the X-chromosome. An extensive review of the Bloch-Sulzberger syndrome was provided by Landy and Donnai in 1993.

4. GASNet Anesthesiology: Bloch-Sulzberger Syndrome Bowen Syndrome (Cerebrohepatorenal Syndrome) symptoms and caveats bloch-sulzberger syndrome. - Cerebrohepatorenal Syndrome -. ·. Facial dysmorphism http://gasnet.med.yale.edu/pediatric-syndromes/bowen.php

5. EMedicine - Incontinentia Pigmenti : Article Excerpt By: Takuo Tsuji, MD Incontinentia pigmenti (IP), sometimes termed blochsulzberger syndrome, is an X-linked dominant single-gene disorder http://www.emedicine.com/derm/byname/incontinentia-pigmenti.htm

(advertisement) Excerpt from Incontinentia Pigmenti Synonyms, Key Words, and Related Terms: IP, Bloch-Sulzberger syndrome, Bloch-Siemens syndrome, familial incontinentia pigmenti, IP2 Please click here to view the full topic text: Incontinentia Pigmenti 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-

6. DermIS / Main Menu / DOIA / Incontinentia Pigmenti / Images Provides an indepth definition of the disease as well as a description of its characteristics including occurrences, causes and prognosis. Incontinentia Pigmenti also called bloch-sulzberger syndrome or Bloch-Siemens syndrome is a complex hereditary disease http://www.dermis.net/bilddb/diagnose/englisch/i757361.htm

HOME DOIA PeDOIA Skincancer ... DOIA Incontinentia Pigmenti images images for the diagnosis 'Incontinentia Pigmenti' sitesearch: DermIS - Dermatology Information System

7. ClinicalTrials.gov - Linking Patients To Medical Research Search Query Details. No studies were found for blochsulzberger syndrome ALL-FIELDS.Modify Your Search. Individual Terms, Count. bloch-sulzberger syndrome , None. http://www.clinicaltrials.gov/search/term=Bloch-Sulzberger Syndrome

8. Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) Incontinentia pigmenti (blochsulzberger syndrome) This disease is described in an article in GeneReviews. http://www.simulconsult.com/resources/c0021171.html

Incontinentia pigmenti (Bloch-Sulzberger syndrome) This disease is described in an article in GeneReviews SimulConsult Inc.

9. NINDS Incontinentia Pigmenti Information Page Informational sheet compiled by National Institute of Neurological Disorders and Stroke.Category Health Conditions and Diseases Incontinentia Pigmenti...... NINDS is part of the National Institutes of Health. NINDS Incontinentia PigmentiInformation Page Synonym(s) blochsulzberger syndrome Reviewed 11-02-2001 http://www.ninds.nih.gov/health_and_medical/disorders/inconpig_doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Incontinentia Pigmenti Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health 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? 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. Dental and hair problems may be treated by a specialist. 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?

10. NINDS - News And Events Benign Focal Amyotrophy Benign Intracranial Hypertension BernhardtRoth SyndromeBinswanger's Disease Blepharospasm bloch-sulzberger syndrome Brachial Plexus http://www.ninds.nih.gov/health_and_medical/news.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about a disorder Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health Please Select a Disorder (includes synonyms and research topics) Select a letter to jump to the disorder... or return to top of page A B C D ... Z A ADHD AIDS - Neurological Manifestations Acquired Epileptiform Aphasia Acute Disseminated Encephalomyelitis ... Autonomic Dysfunction Select a letter to jump to the disorder... or return to top of page A B C D ... Z B Back Pain Barth Syndrome Batten Disease Behcet's Disease ... Bulbospinal Muscular Atrophy Select a letter to jump to the disorder... or return to top of page A B C D ... Z C Canavan Disease Carpal Tunnel Syndrome Causalgia Cavernomas ... Cytomegalovirus Infection Select a letter to jump to the disorder... or return to top of page A B C D ... Z D Dancing Eyes-Dancing Feet Syndrome Dandy-Walker Syndrome Dawson Disease De Morsier's Syndrome ... Dystonias Select a letter to jump to the disorder... or return to

11. Nutrition - Incontinentia Pigmenti An article about incotinentia pigmenti.Category Health Conditions and Diseases Incontinentia Pigmenti...... Incontinentia Pigmenti also called blochsulzberger syndrome or Bloch-Siemens syndromeis a complex hereditary disease with ectodermal, neurologic, ocular and http://www.mc.vanderbilt.edu/peds/pidl/nutrit/incont.htm

PIDL Home/ Contents Development Nutrition Acute Illness ... Psychosocial Nutrition INCONTINENTIA PIGMENTI Incontinentia Pigmenti also called Bloch-Sulzberger syndrome or Bloch-Siemens syndrome is a complex hereditary disease with ectodermal, neurologic, ocular and musculoskeletal manifestations. It is an x-linked dominantly inherited disease, usually lethal in males. More than 95% of the reported cases are females, the few males being probably the result of spontaneous mutations. Chromosome studies have shown an increased frequency of aberrations and it has been suggested that this is a chromosomal breakage syndrome. Adolescents may have warty lesions around the nails with underlying lytic bone lesions. The pigmentation that was described as the third stage may be the only abnormality, it may be present first or may appear as the inflammatory lesions are subsiding, though not necessarily in the same sites. In addition, inflammatory lesions can develop in areas already pigmented. The pigmentation ranging in color from blue-grey or slate to brown is characteristic of the syndrome, and the bizarre "splashed" or "chinese figure" distribution is diagnostic. Occasionally, multiple linear and macular telangiectasia can be noted. The inflammatory lesions are uncommon after the age of 6 months but may be followed by atrophy or sclerosis. However, the pigmentation persists for many years, slowly fading until it is imperceptible by the second or third decade.

12. Incontinentia Pigmenti (IP) (xrts28.htm) Incontinentia Pigmenti (IP) (blochsulzberger syndrome). by. Dr Helen Stewart Consultantin Clinical Genetics Churchill Hospital, Oxford, UK. How common is IP? 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.

13. EDS: Information On IP (xpindex.htm) Incontinentia Pigmenti (IP) (blochsulzberger syndrome) (July 2002) by Dr HelenStewart, Consultant in Clinical Genetics, Churchill Hospital, Oxford, UK. http://www.ectodermaldysplasia.org/xpindex.htm

Information on IP This page brings together all the information specific to IP. Articles on IP Incontinentia Pigmenti (IP) (Bloch-Sulzberger syndrome) (July 2002) by Dr Helen Stewart, Consultant in Clinical Genetics, Churchill Hospital, Oxford, UK Incontinentia Pigmenti - small, but not insignificant (Karen Mosely) Ectodermal Dysplasia Society You may also want to visit the following pages: Information about the Ectodermal Dysplasia Society Contact the Society Links to other IP sites Incontinentia Pigmenti International Foundation A group based in the USA for those with this type of ectodermal dysplasia with links to other groups elsewhere in the world. Incontinentia Pigmenti is a recognised syndrome of ectodermal dysplasia and individuals with IP are supported by the Ectodermal Dysplasia Society (listed on the IPIF site as a support group based in the UK). Other IP Support Groups France Denmark Australia/New Zealand (email only) Spain (email only) ... Return to Home Page

14. Diagnosis - Hypopigmentation Table blochsulzberger syndrome, Bloch-Siemens syndrome, Incontinentia pigmenti, 308300. IncontinentiaPigmenti, bloch-sulzberger syndrome, Bloch-Siemens syndrome, 308300. http://www.keratin.com/ab/ab009.shtml

hypopigmentation table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving a loss of hair color (hypopigmentation) Introduction The table below records disorders known to involve a lack of pigment (hypopigmentation) in hair fiber. Most of the disorders are piebald traits or subcategories of albinism. This is not necessarily a complete list of disorders involving hair hypopigmentation. There are many more hypopigmentary disorders of the skin that might also involve hair. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible. Where a disorder is known by more than one name, alternative names are given in the second column and the record duplicated in the first column under each respective name. Brackets around alternative disorder names indicate an indirect association, for example a subcategory of the disorder. These records are not duplicated in the first column. List of disorders involving a loss of hair color (hypopigmentation) Disorders with hypopigmentation of hair as a symptom Alternative names for the disorder Links to OMIM web pages for the disorder (where available) Acrodermatitis enteropathica Zinc deficiency Albinism III

15. Diagnosis - Hypotrichosis Table blochsulzberger syndrome, Incontinentia pigmenti, 308300. Incontinentia pigmenti,bloch-sulzberger syndrome, 308300. Johanson-Blizzard syndrome, 243800. http://www.keratin.com/ab/ab005.shtml

hypotrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving a lack of hair growth (hypotrichosis) as a primary symptom List of disorders involving a lack of hair growth (hypotrichosis) as a secondary symptom Introduction The tables below records disorders known to involve hypotrichosis. The first table lists disorders where hypotrichosis is a primary symptom. The second table lists disorders where hypotrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health or life threatening. Many of these conditions involving hypotrichosis as a secondary symptom are ectodermal dysplasias. The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. Some dermatologists will disagree with my listing. You may find some disorders in both the alopecia and hypotrichosis listings. This is not necessarily a complete list of disorders involving hypotrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.

16. Health Library - Incontinentia Pigmenti Synonyms. BlochSiemens-Sulzberger Syndrome; bloch-sulzberger syndrome;IP; Bloch-Siemens Incontinentia Pigmenti Melanoblastosis Cutis Linearis; http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

17. Abstracts 5 99 VM Voinova, PV Novikov, LZ Kazantseva The blochsulzberger syndrome in children.A clinical case of the bloch-sulzberger syndrome in a child is presented. http://www.mediasphera.aha.ru/pediatr/99/5/e5-99ref.htm

Abstracts Russian bulletin of perinatology and pediatrics ¹5 1999 A.D. Tsaregorodtsev, B.A. Kobrinsky Telemedical technologies for teleconsultations and for correspondence postgraduate training of physicians Key words: telemedicine, remote diagnosis, teleconsultations. P.V. Novikov, O.V. Evgrafov DNA diagnosis of hereditary diseases in children of the Russian Federation: State-of-the-art and problems Based on the analysis of the activities of scientific and practical medicogenetical institutions in the Russian Federation and on the data available in the literature, the paper shows the present status of DNA diagnosis of hereditary diseases in children. The available data on DNA diagnosis in the world and in Russia are critically reviewed. A spectrum of hereditary diseases detected by DNA techniques in Russia is given. The existing problems that hamper DNA technologies to be widely introduced into pediatric care are considered. Key words: DNA diagnosis, hereditary diseases, children, medicogenetic aid, medicogenetic service organization. L.A. Nikolskaya

18. Contents 5 99 of newborns. Clinical Genetics. Voinova VM, Novikov PV, KazantsevaLZ The blochsulzberger syndrome in children. Temin PA, Nikolaeva http://www.mediasphera.aha.ru/pediatr/99/5/e5-99con.htm

Contents Russian bulletin of perinatology and pediatrics ¹5 1999 Anniversaries I.I. Balasheva L.T. Teblîyeva A.F. Vinogradov Leading Article Tsaregorodtsev A.D., Kobrinsky B.A. Telemedical technologies for teleconsultations and for correspondence postgraduate training of physicians Editorial Novikov P.V., Evgrafov O.V. DNA diagnosis of hereditary diseases in children of the Russian Federation: State-of-the-art and problems Perinatology Nikolskaya L.A. Sociomedical significance and a programme for reducing fetoinfantile losses Aleksandrovsky A.V., Kudashov N.I., Vanko L.V. Neonatal herpes virus infections: Clinical and immunological features ... Thrombosis of superior vena cava as a cause of iatrogenic sepsis of newborns Clinical Genetics Voinova V.M., Novikov P.V., Kazantseva L.Z. The Bloch-Sulzberger syndrome in children Temin P.A., Nikolaeva E.A., Belousova E.D., Semenov V.A., Dorofeeva M.Yu., Ermakov A.Yu., Chentsova T.V., Perminov V.S. Fumaric aciduria ... Molecular cytogenetic diagnosis of Partial trisomy of the long arm of chromosome 9 in a child with mental and motor retardation due to maternal translocation Clinical Immunology Kasokhov A.B.

19. About IP Bloch and Sulzberger in 1928. blochsulzberger syndrome is another namecommonly used for IP. Other names are Bloch-Siemens incontinentia http://imgen.bcm.tmc.edu/IPIF/nipfchar.htm

Susanne Bross Emmerich, Executive Director 30 East 72nd St, New York, N.Y. 10021 U.S.A. Tel: 212 452-1231 Fax: 212 452-1406 E-Mail: ipif@ipif.org Web Site: http://imgen.bcm.tmc.edu/IPIF *THE GENE CAUSING INCONTINENTIA PIGMENTI HAS BEEN IDENTIFIED* by an international consortium of investigators supported by IPIF Link to Gene News return to table of contents INCONTINENTIA PIGMENTI 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).

20. DERMATOLOGY DISEASES Behcet`s syndrome. blochsulzberger syndrome. Boils (Furuncles; Carbuncles). Incontinentiapigmenti (bloch-sulzberger syndrome). Juvenile xanthogranuloma. http://www.edae.gr/diseases.html

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

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 1     1-20 of 91    1  | 2  | 3  | 4  | 5  | Next 20