Genomes and Genes
Summary: A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.
Publications175 found, 100 shown here
- A fresh look at incontinentia pigmentiRudolf Happle
Arch Dermatol 139:1206-8. 2003
- Neurological findings in incontinentia pigmenti; a reviewMarije E C Meuwissen
Dept of Clinical Genetics, Erasmus University Medical Center, Dr Molewaterplein 50, Rotterdam, The Netherlands
Eur J Med Genet 55:323-31. 2012b>Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations...
- Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) ConsortiumA Smahi
Department of Genetics, Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERMU 393, Hopital Necker Enfants Malades, Paris, France
Nature 405:466-72. 2000Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males...
- Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutationsFrancesca Fusco
Institute of Genetics and Biophysics Adriano Buzzati Traverso IGB CNR, Naples, Italy
Hum Mutat 29:595-604. 2008..called nuclear factor-kappaB (NF-kB) essential modulator (NEMO), gene are the most common single cause of incontinentia pigmenti (IP) in females and anhydrotic ectodermal dysplasia with immunodeficiency (EDA-ID) in males...
- Systematic review of central nervous system anomalies in incontinentia pigmentiSnezana Minić
School of Medicine, University of Belgrade, and Dermatovenerology Clinic, Clinical Center of Serbia, Belgrade, Serbia
Orphanet J Rare Dis 8:25. 2013..nervous system (CNS) types of anomalies and to consider the possibility to include CNS anomalies in Incontinentia pigmenti (IP) criteria. The analyzed literature data from 1,393 IP cases were from the period 1993-2012...
- Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmentiHélène Sebban-Benin
INSERM U697, Pavilion Bazin, Hopital Saint Louis, Paris, France
Hum Mol Genet 16:2805-15. 2007..the molecular characterization of a new missense mutation of NEMO (A323P) which causes a severe form of incontinentia pigmenti (OMIM#308300), an inherited disease characterized predominantly by skin inflammation...
- Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorderMichael Ehrenreich
Dermatology and Pediatrics, UMDNJ New Jersey Medical School, Newark 07103 2714, USA
Cutis 79:355-62. 2007b>Incontinentia pigmenti (IP) is a rare inherited multisystem disorder characterized by a distinctive swirling pattern of the skin; defects of teeth, hair, and nails; and ophthalmic, central nervous system, and musculoskeletal abnormalities...
- Clinical diagnosis of incontinentia pigmenti in a cohort of male patientsFrancesca Fusco
Institute of Genetics and Biophysics Adriano Buzzati Traverso IGB CNR, Naples, Italy
J Am Acad Dermatol 56:264-7. 2007Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP...
- Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanismsFrancesca Fusco
Institute of Genetics and Biophysics Adriano Buzzati Traverso, IGB CNR, Naples 80131, Italy
Hum Mol Genet 21:1260-71. 2012IKBKG/NEMO gene mutations cause an X-linked, dominant neuroectodermal disorder named Incontinentia Pigmenti (IP)...
- Clinical study of 40 cases of incontinentia pigmentiSmail Hadj-Rabia
Department of Dermatology, Hopital Necker Enfants Malades, Paris, France
Arch Dermatol 139:1163-70. 2003To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP).
- Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activationFrancesca Fusco
Institute of Genetics and Biophysics, Adriano Buzzati Traverso CR, Naples, Italy
Hum Mol Genet 13:1763-73. 2004b>Incontinentia Pigmenti (IP) is an X-linked genodermatosis that is lethal for males and present in females with abnormal skin pigmentation and high variable clinical signs, including retinal detachment, anodontia, alopecia, nail dystrophy ..
- The skin is not the predominant problem in incontinentia pigmentiMorton F Goldberg
Wilmer Eye Institute, Woods 276, Johns Hopkins Hospital, 600 N Wolfe St, Baltimore, MD 21287 9128, USA
Arch Dermatol 140:748-50. 2004
- Bilateral cerebrovascular accidents in incontinentia pigmentiLoretta Fiorillo
Division of Pediatric Dermatology, Walter Mackenzie Health Sciences Centre, University of Alberta, Edmonton, Alberta, Canada
Pediatr Neurol 29:66-8. 2003b>Incontinentia Pigmenti is an X-linked dominant neurocutaneous disorder with central nervous system manifestations in 30% of cases, including seizures and mental retardation...
- Ocular manifestations of incontinentia pigmentiG Holmstrom
Department of Ophthalmology, Academic Hospital, Uppsala, Sweden
Acta Ophthalmol Scand 78:348-53. 2000The study aimed to evaluate the ocular manifestations in patients with incontinentia pigmenti (IP).
- Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonatesJurate Buinauskiene
Clinic of Neonatology, Kaunas University of Medicine Hospital, Eiveniu 2, 50009 Kaunas, Lithuania
Medicina (Kaunas) 41:496-9. 2005..In addition to that, respiratory and heart failure, as well as brain edema were progressing. The suspected diagnosis of incontinentia pigmenti (Bloch-Sulzberger syndrome) was confirmed postmortem by skin biopsy.
- Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signalingArianna Nenci
Mouse Biology Unit, European Molecular Biology Laboratory, Via Ramarini 32, 00016 Monterotondo Scalo, Rome, Italy
Hum Mol Genet 15:531-42. 2006..Mutations disrupting the X-linked NEMO gene cause incontinentia pigmenti (IP), a human genetic disease characterized by male embryonic lethality and by a complex pathology ..
- Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathyShinpei Abe
Department of Pediatrics, Juntendo University School of Medicine, Bunkyo ku, Tokyo, Japan
Brain Dev 33:28-34. 2011We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy.
- X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case reportMarcela A C Pereira
Hospital Universitario Evangelico de Curitiba, PR, Brazil
An Bras Dermatol 85:372-5. 2010b>Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. Skin manifestations are the most common and occur in four quite distinct phases...
- Ocular anomalies in incontinentia pigmenti: literature review and meta-analysisSnezana Minić
Institute of Dermatology, Clinical Centre of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia
Srp Arh Celok Lek 138:408-13. 2010b>Incontinentia pigmenti (IP) is an X-linked genodermatosis in which skin changes are combined with dental, eye and central nervous system anomalies.
- Abnormal white matter in a neurologically intact child with incontinentia pigmentiShannon A Bryant
University of Alabama at Birmingham College of Medicine, Birmingham, Alabama, USA
Pediatr Neurol 36:199-201. 2007b>Incontinentia pigmenti is an X-linked neurocutaneous disorder which is often lethal in males. Ectodermal tissues are involved, and affected females often have abnormalities of skin, teeth, hair, eyes, and the central nervous system...
- A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutationsS Aradhya
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 10:2171-9. 2001b>Incontinentia pigmenti (IP) is an X-linked dominant disorder characterized by abnormal skin pigmentation, retinal detachment, anodontia, alopecia, nail dystrophy and central nervous system defects...
- Insights into the pathogenesis of cerebral lesions in incontinentia pigmentiSabine J Hennel
Department of Pediatrics, Murdoch Children s Research Institute and Howard Florey Institute, and Royal Women s and Royal Children s Hospital, Parkville, Melbourne, Vic, Australia
Pediatr Neurol 29:148-50. 2003We report the case of a neonate with incontinentia pigmenti and seizures on day 4 of life who underwent magnetic resonance imaging and angiography scanning at 8, 13, and 21 days of age...
- Nearly completely reversible brain abnormalities in a patient with incontinentia pigmentiH Lou
Department of Radiology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
AJNR Am J Neuroradiol 29:431-3. 2008We report a case of incontinentia pigmenti with reversible cortex and subcortical white matter necrosis-like presentation by MR imaging...
- Incontinentia pigmenti with encephalocele in a neonate: a rare associationNihal Demirel
Department of Neonatology, Dr Sami Ulus Children s Hospital, Ankara, Turkey
J Child Neurol 24:495-9. 2009b>Incontinentia pigmenti is a rare, X-linked dominant multisystem genodermatosis affecting ectodermal and mesodermal tissues. After the skin, the central nervous system is the second-most affected system...
- Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: a case report and literature reviewSyed N Shah
Department of Dermatology, Norfolk and Norwich University Hospital, Norwich, United Kingdom
Pediatr Dermatol 20:491-4. 2003b>Incontinentia pigmenti (IP) is a multisystem disorder with characteristic cutaneous signs. After the skin, the central nervous system is the next most affected system...
- Novel corneal features in two males with incontinentia pigmentiE J Mayer
Bristol Eye Hospital, Lower Maudlin Street, Bristol BS1 2LX, UK
Br J Ophthalmol 87:554-6. 2003b>Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males...
- Orthodontic and orthopedic treatment of a patient with incontinentia pigmentiCenk Doruk
Faculty of Dentistry, University of Cumhuriyet, Sivas, Turkey
Angle Orthod 73:763-8. 2003b>Incontinentia pigmenti is an uncommon, inherited disorder with predominantly ectodermal manifestations that is associated with skin (100%)), dental (90%), skeletal (40%), central nervous (40%), and ocular (35%) deformities...
- Incontinentia pigmentiMohammad Hosein Kalantar Motamedi
Department of Pathology, Trauma Research Center, Baqiyatallah University of Medical Sciences, and Attending Surgeon, Azad University of Medical Sciences, Tehran, Iran
Indian J Pathol Microbiol 53:302-4. 2010b>Incontinentia pigmenti (IP) or Bloch-Sulzberger syndrome is a rare X-linked dominant genodermatosis related to the NF kappa B essential modulator (NEMO) gene with approximately 800 cases reported worldwide...
- Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentationNicole I Wolf
Department of Pediatric Neurology, University Children s Hospital Heidelberg, Germany
AJNR Am J Neuroradiol 26:1580-2. 2005b>Incontinentia pigmenti is a rare neurocutaneous disorder that may present with neurologic symptoms, in addition to a characteristic vesicular rash within the first days of life...
- Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn: a case reportSunit Godambe
Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
J Perinatol 25:289-92. 2005b>Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a multisystem disorder with classical changing skin lesions...
- Incontinentia pigmenti with painful subungual tumors: a two-generation studyCarolina M Montes
Department of Pathology, Baptist Medical Center Montclair, Birmingham, North Carolina, USA
J Am Acad Dermatol 50:S45-52. 2004We report 2 cases of painful subungual dyskeratotic tumors occurring in a mother and daughter with incontinentia pigmenti (IP) as a late manifestation of the disease...
- Neonatal seizures in two sisters with incontinentia pigmentiG Pörksen
Children s Hospital, Technical University Dresden, Dresden, Germany
Neuropediatrics 35:139-42. 2004Familial incontinentia pigmenti (IP) (OMIM #308300) is a rare genetic disorder which segregates in an X-linked dominant way. The female-to-male ratio ranges from 20 to 37 : 1...
- Concomitant diagnosis of sarcoidosis and incontinentia pigmenti in an epileptic patientM Obermann
Eur J Neurol 15:e36-7. 2008
- [Incontinentia pigmenti. Four patients with different clinical manifestations]I Llano-Rivas
Unidad de Genetica, Universidad de Oviedo, Espana
An Pediatr (Barc) 76:156-60. 2012b>Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait...
- Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotypeRita Genesio
Cellular and Molecular Biology and Pathology Department University of Naples Federico II, Naples, Italy
Epigenetics 6:1242-7. 2011..novo reciprocal balanced translocation X;2(q23;q33) presenting phenotypic alterations highly suggestive of Incontinentia Pigmenti (IP) syndrome, a genodermatosis with abnormal skin pigmentation and neurological failure, segregating as X-..
- [Incontinentia pigmenti (Bloch-Sulzberger syndrome)]E Mühlenstädt
Hautklinik des Universitätsklinikums Düsseldorf, Moorenstr 5, 40225, Dusseldorf
Hautarzt 61:831-3. 2010..Histological examination revealed typical features of incontinentia pigmenti in the inflammatory stage...
- Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG geneHelen Fryssira
University of Athens Medical School, Aghia Sophia Children s Hospital, Greece
Acta Paediatr 100:128-33. 2011To describe and evaluate the clinical and molecular findings of patients with incontinentia pigmenti (IP) in Greece.
- [Fluorescein angiography with Retcam in incontinentia pigmenti: a case report]J Escudero
Hospital Regional Carlos Haya, Malaga, Espana
Arch Soc Esp Oftalmol 84:529-32. 2009The ophthalmic examination and results of fluorescein angiography using Retcam II are described in a patient with Incontinentia Pigmenti (IP).
- Recurrent stroke in a child with incontinentia pigmentiMichael S Cartwright
Department of Neurology, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
J Child Neurol 24:603-5. 2009We report a child with genetically proven incontinentia pigmenti who had bilateral strokes at 5 days of age, and was subsequently found to have recurrent acute strokes on magnetic resonance imaging both at 10 days and 3 months of age...
- Acute disseminated encephalomyelitis in an infant with incontinentia pigmentiNaoya Matsumoto
Department of Pediatrics, Abashiri Kosei Hospital, Abashiri, Hokkaido, Japan
Brain Dev 31:625-8. 2009We report the case of a female Japanese infant who was diagnosed with incontinentia pigmenti (IP) on the basis of the clinical and pathological findings of characteristic skin lesions and the detection of deletion in the nuclear factor-..
- Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti diseaseMatilde Immacolata Conte
Institute of Genetics and Biophysics Adriano Buzzati Traverso, IGB CNR, Naples, Italy
Hum Mutat 35:165-77. 2014b>Incontinentia pigmenti (IP) is an X-linked-dominant Mendelian disorder caused by mutation in the IKBKG/NEMO gene, encoding for NEMO/IKKgamma, a regulatory protein of nuclear factor kappaB (NF-kB) signaling...
- A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutationNe Ron Loh
Gloucester Royal Hospital, Gloucester, GL1 3NN, UK
Acta Paediatr 97:379-81. 2008b>Incontinentia pigmenti (IP) is not generally recognized as a cause of neonatal encephalopathy...
- Serial changes in white matter lesions in a neonate with incontinentia pigmentiJ H Lee
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, South Korea
Childs Nerv Syst 24:525-8. 2008We report an infant who presented with clinical manifestations of incontinentia pigmenti (IP). Despite experiencing seizures in the early neonatal period, the patient had normal growth and development until recently...
- [Neonatal seizures revealing incontinentia pigmenti]S Nouri-Merchaoui
Service de Neonatologie, CHU Farhat Hached, Sousse, Tunisie
Arch Pediatr 18:1095-9. 2011b>Incontinentia pigmenti (IP) is a rare affection inherited as X-linked dominant disease. It is usually lethal in male infants. IP can affect ectodermal tissues such as the skin, teeth, eyes, bones, and the central nervous system...
- Histopathologic and trypsin digestion studies of the retina in incontinentia pigmentiW Robert Bell
Eye Pathology Laboratory, Department of Pathology, Wilmer Institute, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
Ophthalmology 115:893-7. 2008To report the ocular histopathologic features of a 55-year-old patient with incontinentia pigmenti retinopathy.
- Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesisGregor W Kaczala
Department of Neonatology, Children s and Women s Health Center of British Columbia, Vancouver, BC, Canada
Eur J Pediatr 167:979-83. 2008..The clinical diagnosis of incontinentia pigmenti (stage 1) was secured by histopathology. Follow-up at 13 months showed global developmental delay.
- Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patientsChao Chun Zou
Department of Medicine, The Children s Hospital of Zhejiang University School of Medicine, Hangzhou, China
Int J Dermatol 46:1017-22. 2007To analyze clinical manifestation and gene of NF-kappaB essential modulator (NEMO) in 12 pediatric incontinentia pigmenti (IP) patients.
- Incontinentia pigmenti mimicking a herpes simplex virus infection in the newbornFusun Okan
Department of Neonatology, Sisli Children s Hospital, Halaskargazi cad Sisli, 34394, Istanbul, Turkey
Childs Nerv Syst 24:149-51. 2008b>Incontinentia pigmenti is a rare, X-linked dominant multisystem genodermatosis that presents at or soon after birth with characteristic cutaneous signs...
- Serial cytokine expressions in infants with incontinentia pigmentiSui Ling Liao
Department of Pediatrics, Chang Gung Memorial Hospital at Keelung, Taiwan
Immunobiology 218:772-9. 2013..However, little is known about changes in the expression of downstream molecules in patients with incontinentia pigmenti (IP)...
- Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanismNathalie Bodak
Service de Dermatologie, Hopital Necker Enfants Malades, Paris, France
Arch Dermatol 139:201-4. 2003b>Incontinentia pigmenti (IP) is an X-linked genodermatosis that is manifested by neonatal inflammatory vesicles localized along the lines of Blaschko. These lesions usually clear spontaneously within a few months, leaving hyperpigmentation...
- Incontinentia pigmenti: late sequelae and genotypic diagnosis: a three-generation study of four patientsP Dutheil
Division of Dermatology, , Paris, France
Pediatr Dermatol 12:107-11. 1995Late cutaneous signs of incontinentia pigmenti (IP) are often subtle and misdiagnosed. We focus on these somewhat confusing clinical markers in a family, and on the genotypic diagnosis based on DNA analysis...
- A dentofacial deformity associated with incontinentia pigmenti: report of a caseP E Milam
University of Chicago Medical Center, Ill
Oral Surg Oral Med Oral Pathol 70:420-4. 1990..This patient manifested classic ectodermal and mesodermal anomalies. We present this case to illustrate a rare etiologic factor in the development of dentofacial deformities that can be treated in the conventional manner...
- Case report: orthodontic treatment of dental problems in incontinentia pigmentiT Yamashiro
Department of Orthodontics, Okayama University Dental School, Japan
Angle Orthod 68:281-4. 1998b>Incontinentia pigmenti is an uncommon genodermatosis that occurs in female infants. The characteristic dental defects are partial anodontia and the presence of some peg-shaped teeth...
- Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutationsSmail Hadj-Rabia
Centre National de Référence des Maladies Génétiques à Expression Cutanée and the Department of Dermatology, Unité de Formation et de Recherche Necker Enfants Malades Hospital, Universite Paris V, Paris, France
J Am Acad Dermatol 64:508-15. 2011b>Incontinentia pigmenti (IP) is a multisystem disorder, in which cutaneous symptoms can be accompanied by dental, ocular, and central nervous system defects...
- Therapeutic use of topical corticosteroids in the vesiculobullous lesions of incontinentia pigmentiT I Kaya
Department of Dermatology, School of Medicine, Mersin University, Mersin, Turkey
Clin Exp Dermatol 34:e611-3. 2009b>Incontinentia pigmenti (IP) is a rare genodermatosis caused by a mutation of nuclear factor kappa B essential modulator gene...
- Multiple clinical manifestations and diagnostic challenges of incontinentia pigmenti--12 years' experience in 1 medical centerJenn Tzong Chang
Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan, ROC
J Chin Med Assoc 71:455-60. 2008b>Incontinentia pigmenti (IP) is a rare X-linked dominant disorder that involves ectodermal tissues of multiple systems. Previous reports are few in Taiwan...
- [Incontinentia pigmenti: clinical and neuroimaging findings in a series of 12 patients]I Pascual-Castroviejo
Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid
Neurologia 21:239-48. 2006..clinical, neuroimaging 51 with magnetic resonance imaging (MRI) and evolutive findings in 12 patients with incontinentia pigmenti (IP)...
- [Incontinence of pigment]M Rola
An Pediatr (Barc) 60:601-2. 2004
- [Lethal neurological involvement during incontinentia pigmenti]F Bachevalier
Service de Dermatologie, CHR Metz Thionville
Ann Dermatol Venereol 130:1139-42. 2003We present a case of incontinentia pigmenti associated with lethal neurological involvement.
- Macular amyloidosis presenting in an incontinentia pigmenti-like pattern with subepidermal blister formationJ J Wu
J Eur Acad Dermatol Venereol 22:635-7. 2008
- Incontinentia pigmenti: a review and update on the molecular basis of pathophysiologyAlexander L Berlin
Department of Dermatology, University of Illinois College of Medicine, 60612, USA
J Am Acad Dermatol 47:169-87; quiz 188-90. 2002b>Incontinentia pigmenti is an uncommon X-linked dominant disorder, lethal in the majority of affected males in utero and variably expressed in females...
- A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathwayTimothy T Chang
Department of Dermatology, Case Western Reserve University, University Hospitals of Cleveland, Cleveland, Ohio 44106 5028, USA
J Am Acad Dermatol 58:316-20. 2008..The same gene is mutated in incontinentia pigmenti (IP), and mutations that do not completely abolish NF-kappaB activity allow survival of male fetuses...
- A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmentiJulie Steffann
Department of Genetics, Hopital Necker Enfants Malades, Paris, France
Prenat Diagn 24:384-8. 2004b>Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is usually lethal in males in the prenatal period. Largely 80% of cases are accounted for by a large-scale deletion encompassing exons 4 to 10 of the NEMO gene...
- Immunologic investigations in eight patients with incontinentia pigmentiS Menni
Institute of Dermatologic Clinic 1st, University of Milan, Italy
Pediatr Dermatol 7:275-7. 1990We studied eight patients with incontinentia pigmenti to investigate the possibility of immunologic abnormalities...
- Extensive cerebral infarction in the newborn due to incontinentia pigmentiFemke Maingay-de Groof
Neonatal Intensive Care Unit, Erasmus MC Sophia Rotterdam, The Netherlands
Eur J Paediatr Neurol 12:284-9. 2008b>Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal multisystem disorder characterized by skin lesions following Blaschko lines...
- Incontinentia pigmenti in male patientsTheresa R Pacheco
Department of Dermatology, University of Colorado Health Sciences Center, USA
J Am Acad Dermatol 55:251-5. 2006b>Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is typified by distinctive cutaneous findings and often by abnormalities of teeth, hair, nails, eyes, musculoskeletal system, and central nervous system...
- Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28Nadine Gigarel
Département de génétique, U393, Hopital Necker Enfants Malades, 75015 Paris, France
Hum Genet 114:298-305. 2004..disease genes such as haemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti. We developed five single-cell triplex amplification protocols with microsatellite markers DXS1073, ..
- The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmentiMin Jung Song
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
J Korean Med Sci 25:1513-7. 2010b>Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system...
- Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathologyJérémie Gautheron
INSERM U781, Hôpital Necker Enfants Malades and Université Paris Descartes, 75015 Paris, France
Hum Mol Genet 19:3138-49. 2010..We also showed that E57K mutation of NEMO found in a mild form of the genetic disease incontinentia pigmenti, resulted in impaired TRAF6 binding and IL-1beta signaling...
- NEMO gene mutations in Chinese patients with incontinentia pigmentiPa Fan Hsiao
Department of Dermatology, Mackay Memorial Hospital, Taipei, Taiwan Mackay Medicine, Nursing and Management College, Taipei, Taiwan
J Formos Med Assoc 109:192-200. 2010b>Incontinentia pigmenti is a rare, X-linked, dominant genodermatosis affecting skin, teeth, eyes, and central nervous system...
- Incontinentia pigmenti in a newborn with NEMO mutationYoung Lee
Department of Dermatology, School of Medicine, Chungnam National University, Daejeon, Korea
J Korean Med Sci 26:308-11. 2011b>Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO)...
- Incontinentia pigmenti: a window to the role of NF-kappaB functionAnna L Bruckner
Department of Dermatology, University of California, San Francisco, San Francisco, CA 94143 0316, USA
Semin Cutan Med Surg 23:116-24. 2004b>Incontinentia pigmenti is an uncommon X-linked dominant genodermatosis primarily affecting females...
- Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literatureM O'Doherty
Ophthalmology Department, Our Lady s Hospital, Crumlin, Dublin, Ireland
Br J Ophthalmol 95:11-6. 2011....
- Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his motherSophie Dupuis-Girod
Unité d Immunologie et d Hé matologie pédiatriques, Hopital Necker Enfants Malades, Paris, France
Pediatrics 109:e97. 2002..the clinical features of a second boy with this novel syndrome and his mother, who presented with signs of incontinentia pigmenti (IP)...
- Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridizationLuis M Franco
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
J Am Acad Dermatol 55:136-8. 2006We report the case of a male infant with incontinentia pigmenti (MIM 308310) and low-grade XXY mosaicism...
- Incontinentia pigmenti: clinical observation of 40 Korean casesBeom Joon Kim
Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea
J Korean Med Sci 21:474-7. 2006b>Incontinentia pigmenti (IP) is an uncommon genodermatosis that usually occurs in female infants. It is characterized by ectodermal, mesodermal, neurological, ocular, and dental manifestations...
- A case of incontinentia pigmenti in Japan and its genetic examinationJane Huang
Department of Ophthalmology, School of Medicine, Fukuoka University, Fukuoka, Japan
Jpn J Ophthalmol 51:142-5. 2007b>Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis with approximately one-third of cases with associated ocular complications...
- Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndromeS Kenwrick
Addenbrooke s Hospital, Cambridge, UK
Am J Hum Genet 69:1210-7. 2001b>Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses...
- NEMO, NFkappaB signaling and incontinentia pigmentiDavid L Nelson
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Curr Opin Genet Dev 16:282-8. 2006The identification of mutations in the NEMO gene in humans with incontinentia pigmenti and several other genetic conditions has led to an appreciation of the multiple roles of signaling through the NFkappaB pathway, and how erroneous ..
- NEMO mutational analysis in a Japanese family with incontinentia pigmentiH Tada
Eye (Lond) 21:888-90. 2007
- Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmentiC Makris
Department of Pharmacology, University of California, San Diego, La Jolla 92093, USA
Mol Cell 5:969-79. 2000..These symptoms and inheritance pattern are very similar to those of incontinentia pigmenti (IP), a human genodermatosis, synthenic with the IKK gamma/NEMO locus...
- A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)J Zonana
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97221, USA
Am J Hum Genet 67:1555-62. 2000..Recently, mutations in IKK-gamma (NEMO) have been shown to cause familial incontinentia pigmenti (IP). Unlike HED-ID, IP affects females and, with few exceptions, causes male prenatal lethality...
- Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relativesT A Phan
Department of Dermatology, Sydney Children s Hospital, Randwick, NSW, Australia
Clin Exp Dermatol 30:474-80. 2005A retrospective case series of 53 female patients with incontinentia pigmenti (IP) including 28 secondary cases (female relatives of probands) was reviewed and compared with other series in an attempt to estimate more accurately the true ..
- Incontinentia pigmenti (IP2): familiar case report with affected men. Literature reviewMaria de la Luz Arenas-Sordo
Centro Nacional de Rehabilitación S S, Mexico DF
Med Oral Patol Oral Cir Bucal 10:E122-9. 2005b>Incontinentia pigmenti is a genodermatosis described by Garrod and in 1920 by Bloch, Sulzberger, Siemens y Bardach. It is an ectodermic disorder that affects skin, teeth, eyes and may also have neurological problems...
- Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletionTiziana Bardaro
Institute of Genetics and Biophysics, Adriano Buzzati Traverso CNR, Naples, Italy
Hum Mutat 21:8-11. 2003Familial incontinentia pigmenti (IP) is a rare X-linked dominant disorder that affects ectodermal tissues...
- NEMO/IKK gamma-deficient mice model incontinentia pigmentiM Schmidt-Supprian
Institute for Genetics, University of Cologne, Federal Republic of Germany
Mol Cell 5:981-92. 2000..and strikingly similar skin lesions in heterozygous females are hallmarks of the human genetic disorder incontinentia pigmenti (IP)...
- The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromesAsma Smahi
Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l Enfant INSERM UR 393, Hopital Necker, 149 rue de Sevres, 75743 Paris Cedex 15, France
Hum Mol Genet 11:2371-5. 2002..b>Incontinentia pigmenti (IP) is the first genetic disorder to be ascribed to NF-kappaB dysfunction...
- Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmentiS Jean-Baptiste
Department of Dermatology, Northwestern University Medical School, Chicago, IL, USA
Clin Exp Immunol 127:470-8. 2002b>Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis primarily affecting female children...
- A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiencyNatalia Martinez-Pomar
Immunology Service, Hospital Universitari Son Dureta, Andrea Doria, 55, 07014, Palma de Mallorca, Balearic Islands, Spain
Hum Genet 118:458-65. 2005b>Incontinentia pigmenti is an X-linked genodermatosis, lethal in males...
- Male cases of incontinentia pigmenti: case report and reviewA E Scheuerle
Department of Pediatrics, University of Texas Health Science Center Houston, USA
Am J Med Genet 77:201-18. 1998Male patients with Bloch-Sulzberger incontinentia pigmenti (IP type II) are rare and more severely affected than their female counterparts, with a significant occurrence of sex chromosome aneuploidy...
- Successful treatment of severe retinal vascular abnormalities in incontinentia pigmentiClaudia Jandeck
University Eye Clinic, Charite Campus Benjamin Franklin, Berlin, Germany
Retina 24:631-3. 2004
- [Incontinentia pigmenti in a five-week-old girl]T Wiederholt
Klinik für Dermatologie und Allergologie, Universitätsklinikum der RWTH Aachen
Hautarzt 55:999-1001. 2004..Histological examination confirmed the clinical presumptive diagnosis of incontinentia pigmenti. We discuss the dinical features, diagnosis, and the molecular genetic basis of this rare inherited skin ..
- Bullous recurrent eruption of incontinentia pigmentiA Patrizi
Pediatr Dermatol 21:613-4. 2004
- Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infectionS Mansour
Department of Medical Genetics, St George s Hospital Medical School, Tooting, London, United Kingdom
Am J Med Genet 99:172-7. 2001Familial Incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems...
- Localization of eosinophil granule major basic protein in incontinentia pigmentiN H Thyresson
Department of Dermatology, Tufts University School of Medicine, Boston
Pediatr Dermatol 8:102-6. 1991We report a case of incontinentia pigmenti and demonstrate the deposition and localization of eosinophil major basic protein (MBP) in the vesicular stage of this neurocutaneous syndrome...
- Incontinentia pigmenti presenting as seizuresJason N Hubert
Department of Medicine, Division of Dermatology, University of Louisville, Louisville, Kentucky 40202, USA
Pediatr Dermatol 19:550-2. 2002b>Incontinentia pigmenti is a rare disorder that may affect many systems including the skin, central nervous system, bone, and eyes...
- Hypochromic reticulated streaks in incontinentia pigmenti: an immunohistochemical and ultrastructural studyV Nazzaro
Centro per le Malattie Cutanee Ereditarie, University of Milan, Italy
Pediatr Dermatol 7:174-8. 1990A 25-year-old woman who recently gave birth to a baby affected by classic lesions of incontinentia pigmenti (IP), had hypochromic, atrophic, and reticulated streaks on both lower limbs...
- Fluorescein angiographic findings in a male infant with incontinentia pigmentiGiselle DeVetten
University of Calgary, Calgary, Alberta, Canada
J AAPOS 11:511-2. 2007b>Incontinentia pigmenti is a rare, X-linked dominant, genodermatosis and is almost always lethal in males...
- Visual diagnosis: a persistent newborn rashLopa Shah
University of Nevada School of Medicine, Las Vegas, Nevada, USA
Pediatr Rev 28:429-32. 2007
- [Two neonates with vesicular skin lesions due to incontinentia pigmenti]D H Winterberg
Academisch Medisch Centrum/Universiteit van Amsterdam, Postbus 22.700, 1100 DE Amsterdam
Ned Tijdschr Geneeskd 145:2178-82. 2001In two neonate girls with vesicular skin lesions, incontinentia pigmenti (Bloch-Sulzberger syndrome) was diagnosed. This rare X-linked dominant ectodermal disease can cause abnormalities in several organ systems...
- All that is vesicular is not herpes: incontinentia pigmenti masquerading as herpes simplex virus in a newbornMorayo Faloyin
College of Medicine, University of Illinois, Rockford, Illinois, USA
Pediatrics 114:e270-2. 2004b>Incontinentia pigmenti is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities...
- MOLECULAR MECHANISMS LEADING TO RETT SYNDROMEUta Francke; Fiscal Year: 2002..The hypothesis tat a genomic rearrangement causes two de novo mutations in Xq28 in a female with RTT and Incontinentia Pigmenti (IP), another X-linked dominant disorder lethal in males, will be tested by genomic approaches and by ..
- ANALYSIS AND CLONING OF A DEVELOPMENTAL SKIN LOCUSJEROME GORSKI; Fiscal Year: 1990..research undertaken in this proposal will be directed towards the analysis of a human developmental gene, incontinentia pigmenti (IP). IP is an X-linked dominant, hemizygote lethal disorder...
- Molecular Analysis of Xq28-Linked Incontinentia PigmentiDavid Nelson; Fiscal Year: 2008b>Incontinentia pigmenti (IP) is an X-linked dominant and male-lethal disorder that mainly affects the skin, teeth, eyes, and central nervous system...
- HYPOHIDROTIC ECTODERMAL DYSPLASIA--A GENETIC ANALYSISJonathan Zonana; Fiscal Year: 2002..At the same time, the new knowledge should rapidly result in improved genetic diagnosis and counseling, and may even suggest avenues for future therapies. ..