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
SpringerLink: Monatsschrift Kinderheilkunde - Abstract Volume 149 Issue 1 (2001) Translate this page bloch-sulzberger syndrome (incontinentia pigmenti) is an x-linked dominant disease,affecting the skin, the central nervous system, the eyes, the teeth and the http://link.springer-ny.com/link/service/journals/00112/bibs/1149001/11490041.ht
Extractions: Zusammenfassung Hintergrund. Fallbericht. Abstract Background. Bloch-Sulzberger syndrome (incontinentia pigmenti) is an x-linked dominant disease, affecting the skin, the central nervous system, the eyes, the teeth and the skeleton with variable expression. Diagnosis is suspected in the presence of typical sequence of skin symptom change during the first weeks of life. Case report. Here, we report on a now two year old girl who first presented with epileptic seizures, severe encephalopathy with distinct necrosis of cerebral medulla and cortex at the age of two days. Thereafter the child developed mental retardation, spastic tetraparesis and microcephaly. There were no distinct skin eruptions. A typical generalised dermatosis appearing with papular and pustular lesions resulting into reticular hyperpigmentation became evident at the age of two years when she suffered from septic lymphadenitis. Diagnosis of incontinentia pigmenti was considered and confirmed by the histologic examination of skin biopsy. Conclusion.
Portal.htm Translate this page SUMMARY. bloch-sulzberger syndrome, or better known as incontinentia pigmenti,is a hereditary disease which affects almost exclusively female children. http://www.smo.org.mx/smo/3260.asp
NINDS Incontinentia Pigmenti Information Page us . Content for this page. NINDS Incontinentia Pigmenti InformationPage. Synonym(s) blochsulzberger syndrome. Reviewed 11-02-2001. http://accessible.ninds.nih.gov/health_and_medical/disorders/inconpig_doc.htm
Extractions: Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders-you are in this section ... Find People The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us NINDS Incontinentia Pigmenti Information Page
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: Bloch-Sulzberger syndrome Background: 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 with ocular, dental, and central nervous system abnormalities. Incontinentia pigmenti refers to the loss of melanin from basal cells in the epidermis; melanin collects in the dermis as free pigment or aggregates of melanophages. Garrod described the first patient in 1906; Sulzberger described the pathologic changes in 1928; and Haber first recognized the multisystem nature of the disease. Happel first recognized that the skin changes occur along the lines of Blaschko in 1985. Incontinentia pigmenti has been described as being "sporadic" with linkage to Xp11.21 and X-linked dominance at locus Xq28; however, the form with linkage to Xp11.21 now is thought to represent incontinentia pigmenti type 1 or hypomelanosis of Ito. The striated mouse with streaked scarring and alopecia was proposed as a model for incontinentia pigmenti. However, the striated mouse has a mutation in the NSDHL gene, which encodes 3,beta-dihydroxysteroid dehydrogenase; Aradhya et al found that the
NORD - National Organization For Rare Disorders, Inc. BlochSiemens-Sulzberger Syndrome; bloch-sulzberger syndrome; IP; PigmentedDermatosis, Siemens-Bloch type. Disorder Subdivisions General http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Incontinentia
ICON Health Publications -- Home Page DYSTONIA DISORDERS BLOCHSIEMENS INCONTINENTIA PIGMENTI MELANOBLASTOSIS CUTIS LINEARISBLOCH-SIEMENS-SULZBERGER SYNDROME bloch-sulzberger syndrome BLOOD FLUKE http://www.icongrouponline.com/health/healthB.html
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 Paperback Book Order by phone: 800-843-2665 (within USA) 1-201-272-3651 (from outside USA) Electronic File * E-Book version sent via e-mail in 2 business days 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
Bloch-Sulzberger Syndrome Up. blochsulzberger syndrome. National Library of Medicine - http//www.nlm.nih.govbloch-sulzberger syndrome, the synonyms, a summary and major features. http://www.medlina.com/bloch-sulzberger_syndrome.htm
Syndromes Rares Associés Au Strabisme (Bosnjakovska 1997) Translate this page Summary Incontinentia pigmenti (bloch-sulzberger syndrome) is a very rare syndromecharacterized by damage of the nuroectodermal and muscle-skeletal tissues. http://orthoptie.net/jfo/jfo29/bosnjako97.htm
Extractions: (Incontinentia pigmenti et Arthrogryposis congénitale) S. BOSNJAKOVSKA, N. POP-JORDANOVA (Skopje - Macédoine) Résumé : Incontinentia pigmenti (syndrome de Bloch-Sulzberger) est une maladie très rare, caractérisée par des affections du tissu neuroectodermal oculaire et musculo-squelettique. Environ 95% des cas sont observés chez les patients du sexe féminin. Nous rapportons ici un cas extrêmement rare chez un garçon.Outre les altérations cutanées manifestées dès le deuxième jour de la naissance, on a découvert ultérieurement une atrophie du nerf optique de l'oeil gauche ainsi qu'un strabisme du même oeil. A l'âge de six ans, l'enfant présentait des anomalies orthodontiques : absence de cinq dents de lait et de onze dents définitives. Arthrogrypose congénitale est aussi un syndrome rare, caractérisé par la contracture des articulations et des troubles hétérogènes vastes. Nous présentons ici le cas d'une fille âgée de 10 ans. En dehors des troubles principaux, elle manifeste aussi un strabisme, un nystagmus, une amblyopie et un ptôsis. Mots clés : Incontinentia pigmenti, atrophie optique, strabisme, anomalies orthodontiques, arthrogrypose, ptôsis
Birth Disorder Information Directory - BA-BL Pigmenti. blochsulzberger syndrome See Incontinentia Pigmenti. BlomstrandSyndrome (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)
CASE 4A BABY GIRL WITH LINEAR VESICLES Incontinentia Pigmenti (IP), also known as blochsulzberger syndrome,is a rare genodermatosis 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.
Rev_0196 Translate this page Incontinentia Pigmenti bloch-sulzberger syndrome. ENDOMETRIOSE DE APÊNDICE VERMIFORMECAUSANDO ABDOME AGUDO. INCONTINENTIA PIGMENTI bloch-sulzberger syndrome. http://www.hu.ufal.br/hu_r0196.htm
Extractions: Janeiro de 1996 Volume 2 Número 1 Revista do Hospital Universitário / UFAL SUMÁRIO ARTIGOS ORIGINAIS PERFIL CLÍNICO DA POPULAÇO ATENDIDA EM AMBULATÓRIO DE CARDIOLOGIA GERAL DO HOSPITAL UNIVERSITÁRIO - UFAL. NOTA TÉCNICA ESOFAGOPLASTIA DE THAL-HATAFUKU POR VÍDEO-LAPAROSCOPIA Video Laparoscopic Esophagoplasty with Thal-Hatakufu Technique COMUNICAÇO BREVE CIRURGIA PALIATIVA NO CARCINOMA DA CABEÇA DO PÂNCREAS. Palliative Surgery of Pancreatic Carcinoma RELATO DE CASO RETALHO MUSCULAR EM FRATURA EXPOSTA. INCONTINÊNCIA PIGMENTAR SÍNDROME DE BLOCH-SULZBERGER. Incontinentia Pigmenti Bloch-Sulzberger Syndrome ENDOMETRIOSE DE APÊNDICE VERMIFORME CAUSANDO ABDOME AGUDO. Appendicial Endometriosis Causing Acute Abdomen IMPLANTE DE MARCAPASSO EM CARDIOMIOPATIA Permanent Pacemaker in Hypertrophic Obstructive Cardiomyopathy ATUALIZAÇO O ELETROENCEFALOGRAMA NA PRÁTICA CLÍNICA. INTEGRINAS. ARTIGO ORIGINAL PERFIL CLÍNICO DA POPULAÇO ATENDIDA EM AMBULATÓRIO DE CARDIOLOGIA GERAL DO HOSPITAL UNIVERSITÁRIO - UFAL. *Silva, Maria Alayde Mendonça da.; Lima, Aroldo Ferreira.; Alencar, Sandra Maria de.; Fonseca, Alaíde Ana.
INCONTINENTIA PIGMENTI Translate this page Institutes of Health Bethesda, Maryland = Incontinentia pigmentiis a rare genodermatosis also called bloch-sulzberger syndrome or Bloch http://digilander.libero.it/camdic/INCPIG.html
MUMS List Of Disorders - B Benign Essential (3); Blind (490) **; blochsulzberger syndrome (IncontinentiaPigmenti) (24) *; Bloom Syndrome (4) *; Blue Baby Syndrome http://www.netnet.net/mums/mum_b.htm
Extractions: indicates there is a support group which covers that diagnosis. B1A Predominent Cells or Fetal Cells (1) BOR Syndrome (Brachio-Oto-Renal Dysplasia) (7) Baller-Gerold Syndrome (Craniosynostosis-Radial Aplasia) (2) Band Heterotropia (12) Bannayan-Riley-Ruvalcaba Syndrome (8) Bannayan-Zonana Syndrome (4) Bardet-Biedl Syndrome (Laurence-Moon) (20) * http://home.talkcity.com/OceanBlvd/iamahawkfan/bardetbeidlsyndrome.html Barrett Esophagus (2) Barth Syndrome (Cardiomyopathy, Hypotonia, Low White Count) (4) www.barthsyndrome.org Basal Cell Carcinoma Syndrome (1) * Basal Cell Nevus Syndrome (1) * Basal Encephalocele (1) Basal Ganglia Infarction (1) Bassen-Kornzweig Syndrome (Abetalipoproteinemia) (2) * Bathing Suit Nevus (4) * Batten Disease (Ceroid Lipofuscinosis) (27) * Batten-Bielschowski-Jansky Disease (2) * Beals Syndrome (Contractural Arachnodactyly) (13) Beckwith-Wiedemann Syndrome (26) * Beckwith Wiedemann Family Forum Behavior Disorder (326) Behcet's Syndrome (1) * www.behcets.cc
