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41. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/
National Library of Medicine bloch-sulzberger syndrome, the synonyms, a summaryand major features. MCW Healthlink Incontinentia Pigmenti - An article
http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis
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42. RETINA - UserLogin
Bilateral macular lesions in incontinentia pigmenti blochsulzberger syndrome.Retina 1996;1638-41. Context Link. Keywords
http://www.retinajournal.com/pt/re/retina/fulltext.00006982-200408000-00025.htm
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43. Orthodontic And Orthopedic Treatment Of A Patient With Incontinentia Pigmenti
Incontinentia pigmenti (IP), also called blochsulzberger syndrome or Bloch-Siemens Incontinentia pigmenti (Bloch Sulzberger Syndrome) report of case.
http://www.angle.org/anglonline/?request=get-document&issn=0003-3219&volume=073&

44. The EyePathologist Disease - B
blochsulzberger syndrome - Klintworth, Gordon K. Bloom syndrome - Klintworth,Gordon K. Blue cell tumor - Klintworth, Gordon K.
http://www.eyepathologist.com/LIST.ASP?Title=B

45. Definitions Of Genetic Disorders-B.
blochsulzberger syndrome ip.htm Blood types bloodtypes.htm Blood type Abloodtypes.htm Blood type B bloodtypes.htm Blood type AB bloodtypes.htm
http://www.icomm.ca/geneinfo/def-b.htm

46. All That Is Vesicular Is Not Herpes: Incontinentia Pigmenti Masquerading As Herp
IP, also known as blochsulzberger syndrome, is an X-linked dominant genetic Landy SJ, Donnai D. Incontinentia pigmenti (bloch-sulzberger syndrome).
http://pediatrics.aappublications.org/cgi/content/full/114/2/e270
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PEDIATRICS Vol. 114 No. 2 August 2004, pp. e270-e272
ELECTRONIC ARTICLE
All That Is Vesicular Is Not Herpes: Incontinentia Pigmenti Masquerading as Herpes Simplex Virus in a Newborn
Morayo Faloyin Jacob Levitt, MD Eric Bercowitz, MD Daniel Carrasco, MD and Jianyou Tan, MD College of Medicine, University of Illinois, Rockford, Illinois
Department of Dermatology, Mount Sinai Medical Center, New York, New York
Department of Dermpathology, Mount Sinai Medical Center, New York, New York
ABSTRACT TOP
ABSTRACT
CASE REPORT
DISCUSSION REFERENCES Incontinentia pigmenti is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities.

47. Incontinentia Pigmenti Information Diseases Database
blochsulzberger syndrome. may cause or feature + (Follow link for list.)risk factors may include + (Follow link for list.) belong(s) to the category of
http://www.diseasesdatabase.com/ddb29600.htm
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Incontinentia pigmenti information
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3 synonyms or equivalents were found. Incontinentia pigmenti
aka/or
Siemens-Bloch-Sulzberger melanoblastosis
aka/or
Bloch-Sulzberger syndrome Incontinentia pigmenti: Definition(s) via UMLS Code translations and terms via UMLS Incontinentia pigmenti: specific web sites Send Incontinentia pigmenti to medical search engines (JavaScript enabled browsers only.) If your browser has no JavaScript you can still use these:
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Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

48. Disease, Medication, Symptom Etc Database Index : B Diseases Database
blochsulzberger syndrome see Incontinentia pigmenti Blomstrand s chondrodysplasiaBlood carbon dioxide raised see Respiratory acidosis
http://www.diseasesdatabase.com/disease_index_b.asp
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Disease, medication, symptom etc database index : B
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B type natriuretic peptide

Babanki virus see Sindbis virus
Babesia microti see Babesiosis
Babesiosis

Baby bottle tooth decay

Bacampicillin
...
Bacillary dysentery

Bacillary epithelioid angiomatosis see Cat scratch fever
Bacille Calmette-Guerin see BCG
Bacillus abortus
Bacillus anthracis see Anthrax Bacillus cereus Bacillus licheniformis Bacillus subtilis ... Bacitracin Back ache see Back pain Back pain Backache see Back pain Baclofen Bacteria and bacterial disease Bacterial infectious disease see Bacteria and bacterial disease Bacterial overgrowth of small intestine Bacterium see Bacteria and bacterial disease Bacterium mirabilis see Proteus Bacteroides Bacteroides forsythus Bad breath see Halitosis BADS syndrome see Black locks, oculocutaneous albinism, and deafness of the sensorineural type Bagasse workers' lung see Bagassosis Bagassosis Bahima disease Baillarger's syndrome see Frey's syndrome Bairnsdale ulcer see Mycobacterium ulcerans Baker's cyst of knee (and rupture) Baker-Winegrad disease see Fructose-1, 6-diphosphatase deficiency

49. The Medical Algorithms Project, Chapter1
blochsulzberger syndrome (Incontinentia Pigmenti, IP). Criteria of Landy andDonnai for the Diagosis of Incontinentia Pigmenti in a Patient with a First
http://www.medal.org/visitor/www/inactive/ch43.aspx
Not Logged In The Medical Algorithms Project Chapter : ch43. Medical Genetics
Only the first few algorithm links in this page are active, as indicated by the icons. To have access to all the spreadsheets, please register (free) and login with your username. Guidelines and Indications for Genetic and Chromosome Analysis Indications for Genetic Evaluation Indications for Chromosome Analysis in Assisted Fertilization Guidelines for Genetic Screening to Detect Heterozygotes (Carrier Detection) Number Needed to Screen (NNS) ... Data of Macpherson et al for Predicting the Probability of Successful In Vitro Tissue Culture Growth from a Stillborn Fetus or Newborn Infant Hardy-Weinberg Formula and Gene Frequencies Hardy-Weinberg Formula Direct Count of Gene Frequencies Huntington's Chorea Risk of Huntington's Chorea in a Healthy First Degree Relative with an Affected Parent Risk of Huntington's Chorea in a Health Second Degree Relative with Unaffected Parent Age of Onset of Huntington's Chorea Based on the CAG Repeat Size Predicting the Risk of Recurrence Equation of Friedman for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History Equation of Young for Predicting the Risk of Recurrence for an Autosomal Dominant Disease with Negative Family History Recurrence Risk for Germinal Mosaics Estimating the Risk of Recurrence in a Relative When One Person Affected Predicting Risk of Recurrence for Congenital Heart Disease Risk of Recurrence for Down's Syndrome in the Offspring of a Woman with a Previously Affected Infant

50. SEMERC: Information Services: Glossary: B
Barts Test. A prenatal blood test for the detection of Down syndrome. bloch-sulzberger syndrome. (See Incontinentia Pigmenti Syndrome)
http://www.semerc.com/information_services/a_z/b.asp
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SEMERC Information Services: Glossary : B
The SEMERC Glossary is kindly provided by David Fulton Publishing. Click on a letter to jump to the appropriate page.
A B C D ... Z
Babinski Reflex
An abnormal reflex response to the stroking of the sole of the foot, found in individuals with nerve damage. The normal reaction is a clenching of the foot with toes downward (plantar reflex). In Babinski reflex the big toe goes up and the toes fan out. The Babinski reflex sometimes occurs in normal infants, but after the age of about two years it is regarded as a sign of neurological disorder
Balanced Translocation or Reciprocal Translocation
(See Chromosome Abnormality)
Barts Test
A pre-natal blood test for the detection of Down syndrome.
Basal Cell Naevus Syndrome or Gorlin Syndrome
Features include: skin tumours, bulging of forehead, wide nasal bridge, dental cysts, short bones of the hands, spinal curvature, mild to moderate learning difficulty. In some cases: squint and other eye defects, skeletal abnormalities, genital defects. The naevi over the face, upper arms, and trunk may become malignant in adulthood, and surgery may be necessary for their removal. Cause not known but affected individuals are considered to have a genetic disposition to the disease.
Basal Ganglia
The nerve cells in the cerebrum which are concerned with coordination. Athetoid cerebral palsy may result from damage to the basal ganglia.

51. SEMERC: Information Services: Glossary: I
Incontinentia Pigmenti Syndrome or blochsulzberger syndrome. Features includedevelopment of skin lesions within the first year, beginning as blisters and
http://www.semerc.com/information_services/a_z/i.asp
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SEMERC Information Services: Glossary : I
The SEMERC Glossary is kindly provided by David Fulton Publishing. Click on a letter to jump to the appropriate page.
A B C D ... Z
I-Cell Disease or Mucolipidosis, Type 2
(See Leroy I-Cell Syndrome)
Ichthyosis
A disorder of the skin, resulting in the formation of dry scales on a rough, cracked surface. Can be inherited in several ways.
Idiopathic
The term used to describe a disorder of unknown cause.
IEP
(See Individual Education Plan)
Imperforate
Lack of a normal opening in a body organ, e.g. the anus.
Impetigo
A contagious inflammation of the skin, producing pustules which dry up and leave scabs.
Inborn Error of Metabolism or Metabolic Disease
Incidence
The proportion of individuals affected by a disorder, compared to the unaffected population.
Inclusive Education
A movement which aims to encourage schools to change their structure, grouping of pupils and support services in order to meet the needs of all their pupils, including those with special educational needs.
Incompatible Behaviour
A term used in behaviour modification to denote a behaviour which opposes or is inconsistent with another.

52. CASE 4—A BABY GIRL WITH LINEAR VESICLES
Incontinentia Pigmenti (IP), also known as blochsulzberger syndrome, is a raregenodermatosis with X-linked dominant inheritance.
http://www.med.wayne.edu/dermatology/webmichderm01/case4.htm
CASE 4—A BABY GIRL WITH LINEAR VESICLES ON THE ARMS AND THE LEGS Meena Moossavi MD, Vicky Langsam MD, George Murakawa MD PhD
HISTORY
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.
EXAMINATION
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.
LABORATORY
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.

53. Case 7
Incontinentia pigmenti (IP), also known as blochsulzberger syndrome, is anX-linked dominant, monogenic disease. Patients can present with neurologic,
http://www.med.wayne.edu/dermatology/MichDerm03/case_7diagnosis.htm
cases diagnosis/discussions case 7—incontinentia 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.

54. Incontinentia Pigmenti
BlochSiemens-Sulzberger Syndrome; bloch-sulzberger syndrome; IP; Bloch-SiemensIncontinentia Pigmenti Melanoblastosis Cutis Linearis; Pigmented Dermatosis,
http://www.bchealthguide.org/kbase/nord/nord409.htm
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National Organization for Rare Disorders, Inc.
Incontinentia Pigmenti
Important
It is possible that the main title of the report Incontinentia Pigmenti 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.
Synonyms
  • Bloch-Siemens-Sulzberger Syndrome Bloch-Sulzberger Syndrome IP Bloch-Siemens Incontinentia Pigmenti Melanoblastosis Cutis Linearis Pigmented Dermatosis, Siemens-Bloch type
Disorder Subdivisions
  • None
General Discussion
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.
Resources
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605

55. A Pregnancy Following PGD For X-linked Autosomal Dominant Incontinentia Pigmenti
A pregnancy following PGD for Xlinked autosomal dominant IncontinentiaPigmenti (bloch-sulzberger syndrome) Case Report. Rachel Pettigrew , Hung-Chih Kuo
http://humrep.oxfordjournals.org/cgi/content/full/16/6/1308
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This Article Extract FREE Full Text (PDF ) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Request Permissions PubMed PubMed Citation Articles by Pettigrew, R. Articles by Ogilvie, C. M. Human Reproduction, Vol. 16, No. 6, 1308, June 2001
European Society of Human Reproduction and Embryology
A pregnancy following PGD for X-linked autosomal dominant Incontinentia Pigmenti (Bloch-Sulzberger syndrome): Case Report
Rachel Pettigrew Hung-Chih Kuo Paul Scriven Paula Rowell Kalyani Pal Alan Handyside Peter Braude and Caroline Mackie Ogilvie Hum. Reprod. In the above article, the word ` autosomal ' should not have been included in the title and throughout the text of the article. The correct title should be: A pregnancy following PGD for X-linked dominant Incontinentia Pigmenti (Bloch-Sulzberger syndrome): Case Report
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56. A Pregnancy Following PGD For X-linked Autosomal Dominant Incontinentia Pigmenti
Incontinentia Pigmenti (blochsulzberger syndrome) is a rare multisystem, ectodermaldisorder associated with dermatological, dental and ocular features,
http://humrep.oxfordjournals.org/cgi/content/abstract/15/12/2650
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Request Permissions PubMed PubMed Citation Articles by Pettigrew, R. Articles by Ogilvie, C. M. Human Reproduction, Vol. 15, No. 12, 2650-2652, December 2000
European Society of Human Reproduction and Embryology
A pregnancy following PGD for X-linked autosomal dominant Incontinentia Pigmenti (Bloch-Sulzberger syndrome): Case Report
Rachel Pettigrew Hung-Chih Kuo Paul Scriven Paula Rowell Kalyani Pal Alan Handyside Peter Braude and Caroline Mackie Ogilvie Guy's and St Thomas' Centre for Preimplantation Genetic Diagnosis, Guy's, King's and St Thomas' School of Medicine, Guy's and St Thomas' Hospital, London SE1 7EH, UK Incontinentia Pigmenti (Bloch-Sulzberger syndrome) is a rare multisystem, ectodermal disorder associated with dermatological

57. Incontinentia Pigmenti - Rare/Orphan Diseases Archives
Incontinentia Pigmenti This X-linked genetic disorder, sometimes termedbloch-sulzberger syndrome, may cause neurological problems, serious eye disorders,
http://rarediseases.about.com/b/a/2005_07_10.htm
zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb);
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Main From Mary Kugler
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FREE Newsletter. Sign Up Now! Incontinentia Pigmenti
This X-linked genetic disorder, sometimes termed Bloch-Sulzberger syndrome, may cause neurological problems, serious eye disorders, tooth abnormalities, and unique skin lesions and pigmentation. Incontinentia pigmenti may also occur with Klinefelter syndrome.
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58. Incontinentia Pigmenti
This Xlinked genetic disorder, sometimes termed bloch-sulzberger syndrome, maycause neurological problems, serious eye disorders, tooth abnormalities,
http://rarediseases.about.com/b/a/184696.htm
zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb);
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Incontinentia Pigmenti
This X-linked genetic disorder, sometimes termed Bloch-Sulzberger syndrome, may cause neurological problems, serious eye disorders, tooth abnormalities, and unique skin lesions and pigmentation. Incontinentia pigmenti may also occur with Klinefelter syndrome. Email to a Friend
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59. Incontinentia Pigmenti
Landy SJ, Donnai D. Incontinentia pigmenti (blochsulzberger syndrome). J MedGenet 1993;3053-9. Nelson-Adesokan P, Mallory SB. Incontinentia pigmenti.
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.

60. Incontinentia Pigmenti (Diagnosen) Gesundheitsportal Medinfo
Translate this page Incontinentia pigmenti type 2, also known as bloch-sulzberger syndrome, is arare, X-linked, dominantly inherited disorder of skin pigmentation that often
http://www.medinfo.de/index.asp?r=706&thema=Incontinentia pigmenti

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