Extractions: National Library of Medicine - Bloch-sulzberger syndrome, the synonyms, a summary and major features. MCW Healthlink: Incontinentia Pigmenti - An article about this rare genetic disorder, its stages and symptoms. Incontinentia Pigmenti - Informational sheet compiled by National Institute of Neurological Disorders and Stroke.
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
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
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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
Extractions: 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:
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
Extractions: 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
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
Extractions: Search our online shop A B C D ... Z 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 (See Chromosome Abnormality) A pre-natal blood test for the detection of Down 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. The nerve cells in the cerebrum which are concerned with coordination. Athetoid cerebral palsy may result from damage to the basal ganglia.
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
Extractions: Search our online shop A B C D ... Z (See Leroy I-Cell Syndrome) A disorder of the skin, resulting in the formation of dry scales on a rough, cracked surface. Can be inherited in several ways. The term used to describe a disorder of unknown cause. (See Individual Education Plan) Lack of a normal opening in a body organ, e.g. the anus. A contagious inflammation of the skin, producing pustules which dry up and leave scabs. The proportion of individuals affected by a disorder, compared to the unaffected population. 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. A term used in behaviour modification to denote a behaviour which opposes or is inconsistent with another.
CASE 4A 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
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 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
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.
Extractions: 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. 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. March of Dimes Birth Defects Foundation
Extractions: 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 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 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.
Extractions: This Article Full Text FREE Full Text (PDF ) An erratum has been published ... 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 ... Cited by other online articles Search for citing articles in: European Society of Human Reproduction and Embryology 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
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
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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
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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
Extractions: 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.
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
