incontinentia pigmenti

Summary

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.

Top Publications

  1. ncbi A fresh look at incontinentia pigmenti
    Rudolf Happle
    Arch Dermatol 139:1206-8. 2003
  2. ncbi Neurological findings in incontinentia pigmenti; a review
    Marije E C Meuwissen
    Dept of Clinical Genetics, Erasmus University Medical Center, Dr Molewaterplein 50, Rotterdam, The Netherlands
    Eur J Med Genet 55:323-31. 2012
  3. ncbi Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
    A 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. 2000
  4. ncbi Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
    Francesca Fusco
    Institute of Genetics and Biophysics Adriano Buzzati Traverso IGB CNR, Naples, Italy
    Hum Mutat 29:595-604. 2008
  5. pmc Systematic review of central nervous system anomalies in incontinentia pigmenti
    Snezana Minić
    School of Medicine, University of Belgrade, and Dermatovenerology Clinic, Clinical Center of Serbia, Belgrade, Serbia
    Orphanet J Rare Dis 8:25. 2013
  6. ncbi Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti
    Hélène Sebban-Benin
    INSERM U697, Pavilion Bazin, Hopital Saint Louis, Paris, France
    Hum Mol Genet 16:2805-15. 2007
  7. ncbi Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder
    Michael Ehrenreich
    Dermatology and Pediatrics, UMDNJ New Jersey Medical School, Newark 07103 2714, USA
    Cutis 79:355-62. 2007
  8. ncbi Clinical diagnosis of incontinentia pigmenti in a cohort of male patients
    Francesca Fusco
    Institute of Genetics and Biophysics Adriano Buzzati Traverso IGB CNR, Naples, Italy
    J Am Acad Dermatol 56:264-7. 2007
  9. ncbi Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
    Francesca Fusco
    Institute of Genetics and Biophysics Adriano Buzzati Traverso, IGB CNR, Naples 80131, Italy
    Hum Mol Genet 21:1260-71. 2012
  10. ncbi Clinical study of 40 cases of incontinentia pigmenti
    Smail Hadj-Rabia
    Department of Dermatology, Hopital Necker Enfants Malades, Paris, France
    Arch Dermatol 139:1163-70. 2003

Research Grants

Detail Information

Publications175 found, 100 shown here

  1. ncbi A fresh look at incontinentia pigmenti
    Rudolf Happle
    Arch Dermatol 139:1206-8. 2003
  2. ncbi Neurological findings in incontinentia pigmenti; a review
    Marije E C Meuwissen
    Dept of Clinical Genetics, Erasmus University Medical Center, Dr Molewaterplein 50, Rotterdam, The Netherlands
    Eur J Med Genet 55:323-31. 2012
    b>Incontinentia Pigmenti is a rare X-linked multisystem disorder with well described and pathognomonic skin manifestations...
  3. ncbi Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium
    A 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. 2000
    Familial incontinentia pigmenti (IP; MIM 308310) is a genodermatosis that segregates as an X-linked dominant disorder and is usually lethal prenatally in males...
  4. ncbi Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations
    Francesca 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...
  5. pmc Systematic review of central nervous system anomalies in incontinentia pigmenti
    Snezana 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...
  6. ncbi Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti
    Hélène 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...
  7. ncbi Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder
    Michael Ehrenreich
    Dermatology and Pediatrics, UMDNJ New Jersey Medical School, Newark 07103 2714, USA
    Cutis 79:355-62. 2007
    b>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...
  8. ncbi Clinical diagnosis of incontinentia pigmenti in a cohort of male patients
    Francesca Fusco
    Institute of Genetics and Biophysics Adriano Buzzati Traverso IGB CNR, Naples, Italy
    J Am Acad Dermatol 56:264-7. 2007
    Eighteen male patients with incontinentia pigmenti (IP) showed the characteristic clinical features and, when examined, histologic skin defects observed in female patients with IP...
  9. ncbi Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms
    Francesca Fusco
    Institute of Genetics and Biophysics Adriano Buzzati Traverso, IGB CNR, Naples 80131, Italy
    Hum Mol Genet 21:1260-71. 2012
    IKBKG/NEMO gene mutations cause an X-linked, dominant neuroectodermal disorder named Incontinentia Pigmenti (IP)...
  10. ncbi Clinical study of 40 cases of incontinentia pigmenti
    Smail Hadj-Rabia
    Department of Dermatology, Hopital Necker Enfants Malades, Paris, France
    Arch Dermatol 139:1163-70. 2003
    To analyze the distribution of manifestations in a pediatric cohort and define guidelines for follow-up of incontinentia pigmenti (IP).
  11. ncbi Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation
    Francesca Fusco
    Institute of Genetics and Biophysics, Adriano Buzzati Traverso CR, Naples, Italy
    Hum Mol Genet 13:1763-73. 2004
    b>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 ..
  12. ncbi The skin is not the predominant problem in incontinentia pigmenti
    Morton 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
  13. ncbi Bilateral cerebrovascular accidents in incontinentia pigmenti
    Loretta Fiorillo
    Division of Pediatric Dermatology, Walter Mackenzie Health Sciences Centre, University of Alberta, Edmonton, Alberta, Canada
    Pediatr Neurol 29:66-8. 2003
    b>Incontinentia Pigmenti is an X-linked dominant neurocutaneous disorder with central nervous system manifestations in 30% of cases, including seizures and mental retardation...
  14. ncbi Ocular manifestations of incontinentia pigmenti
    G Holmstrom
    Department of Ophthalmology, Academic Hospital, Uppsala, Sweden
    Acta Ophthalmol Scand 78:348-53. 2000
    The study aimed to evaluate the ocular manifestations in patients with incontinentia pigmenti (IP).
  15. ncbi Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates
    Jurate 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.
  16. ncbi Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling
    Arianna 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 ..
  17. ncbi Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy
    Shinpei Abe
    Department of Pediatrics, Juntendo University School of Medicine, Bunkyo ku, Tokyo, Japan
    Brain Dev 33:28-34. 2011
    We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy.
  18. ncbi X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report
    Marcela A C Pereira
    Hospital Universitario Evangelico de Curitiba, PR, Brazil
    An Bras Dermatol 85:372-5. 2010
    b>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...
  19. ncbi Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis
    Snezana Minić
    Institute of Dermatology, Clinical Centre of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia
    Srp Arh Celok Lek 138:408-13. 2010
    b>Incontinentia pigmenti (IP) is an X-linked genodermatosis in which skin changes are combined with dental, eye and central nervous system anomalies.
  20. ncbi Abnormal white matter in a neurologically intact child with incontinentia pigmenti
    Shannon A Bryant
    University of Alabama at Birmingham College of Medicine, Birmingham, Alabama, USA
    Pediatr Neurol 36:199-201. 2007
    b>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...
  21. ncbi A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations
    S Aradhya
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 10:2171-9. 2001
    b>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...
  22. ncbi Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti
    Sabine 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. 2003
    We 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...
  23. ncbi Nearly completely reversible brain abnormalities in a patient with incontinentia pigmenti
    H Lou
    Department of Radiology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China
    AJNR Am J Neuroradiol 29:431-3. 2008
    We report a case of incontinentia pigmenti with reversible cortex and subcortical white matter necrosis-like presentation by MR imaging...
  24. ncbi Incontinentia pigmenti with encephalocele in a neonate: a rare association
    Nihal Demirel
    Department of Neonatology, Dr Sami Ulus Children s Hospital, Ankara, Turkey
    J Child Neurol 24:495-9. 2009
    b>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...
  25. ncbi Incontinentia pigmenti associated with cerebral palsy and cerebral leukomalacia: a case report and literature review
    Syed N Shah
    Department of Dermatology, Norfolk and Norwich University Hospital, Norwich, United Kingdom
    Pediatr Dermatol 20:491-4. 2003
    b>Incontinentia pigmenti (IP) is a multisystem disorder with characteristic cutaneous signs. After the skin, the central nervous system is the next most affected system...
  26. pmc Novel corneal features in two males with incontinentia pigmenti
    E J Mayer
    Bristol Eye Hospital, Lower Maudlin Street, Bristol BS1 2LX, UK
    Br J Ophthalmol 87:554-6. 2003
    b>Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males...
  27. ncbi Orthodontic and orthopedic treatment of a patient with incontinentia pigmenti
    Cenk Doruk
    Faculty of Dentistry, University of Cumhuriyet, Sivas, Turkey
    Angle Orthod 73:763-8. 2003
    b>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...
  28. ncbi Incontinentia pigmenti
    Mohammad 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. 2010
    b>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...
  29. ncbi Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation
    Nicole I Wolf
    Department of Pediatric Neurology, University Children s Hospital Heidelberg, Germany
    AJNR Am J Neuroradiol 26:1580-2. 2005
    b>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...
  30. ncbi Unusual neonatal presentation of incontinentia pigmenti with persistent pulmonary hypertension of the newborn: a case report
    Sunit Godambe
    Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    J Perinatol 25:289-92. 2005
    b>Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a multisystem disorder with classical changing skin lesions...
  31. ncbi Incontinentia pigmenti with painful subungual tumors: a two-generation study
    Carolina M Montes
    Department of Pathology, Baptist Medical Center Montclair, Birmingham, North Carolina, USA
    J Am Acad Dermatol 50:S45-52. 2004
    We 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...
  32. ncbi Neonatal seizures in two sisters with incontinentia pigmenti
    G Pörksen
    Children s Hospital, Technical University Dresden, Dresden, Germany
    Neuropediatrics 35:139-42. 2004
    Familial 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...
  33. doi Concomitant diagnosis of sarcoidosis and incontinentia pigmenti in an epileptic patient
    M Obermann
    Eur J Neurol 15:e36-7. 2008
  34. ncbi [Incontinentia pigmenti. Four patients with different clinical manifestations]
    I Llano-Rivas
    Unidad de Genetica, Universidad de Oviedo, Espana
    An Pediatr (Barc) 76:156-60. 2012
    b>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...
  35. ncbi Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype
    Rita 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-..
  36. ncbi [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...
  37. ncbi Incontinentia pigmenti revisited. A novel nonsense mutation of the IKBKG gene
    Helen Fryssira
    University of Athens Medical School, Aghia Sophia Children s Hospital, Greece
    Acta Paediatr 100:128-33. 2011
    To describe and evaluate the clinical and molecular findings of patients with incontinentia pigmenti (IP) in Greece.
  38. ncbi [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. 2009
    The ophthalmic examination and results of fluorescein angiography using Retcam II are described in a patient with Incontinentia Pigmenti (IP).
  39. ncbi Recurrent stroke in a child with incontinentia pigmenti
    Michael S Cartwright
    Department of Neurology, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    J Child Neurol 24:603-5. 2009
    We 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...
  40. ncbi Acute disseminated encephalomyelitis in an infant with incontinentia pigmenti
    Naoya Matsumoto
    Department of Pediatrics, Abashiri Kosei Hospital, Abashiri, Hokkaido, Japan
    Brain Dev 31:625-8. 2009
    We 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-..
  41. ncbi Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease
    Matilde Immacolata Conte
    Institute of Genetics and Biophysics Adriano Buzzati Traverso, IGB CNR, Naples, Italy
    Hum Mutat 35:165-77. 2014
    b>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...
  42. ncbi A genetic cause for neonatal encephalopathy: incontinentia pigmenti with NEMO mutation
    Ne Ron Loh
    Gloucester Royal Hospital, Gloucester, GL1 3NN, UK
    Acta Paediatr 97:379-81. 2008
    b>Incontinentia pigmenti (IP) is not generally recognized as a cause of neonatal encephalopathy...
  43. ncbi Serial changes in white matter lesions in a neonate with incontinentia pigmenti
    J H Lee
    Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, South Korea
    Childs Nerv Syst 24:525-8. 2008
    We 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...
  44. ncbi [Neonatal seizures revealing incontinentia pigmenti]
    S Nouri-Merchaoui
    Service de Neonatologie, CHU Farhat Hached, Sousse, Tunisie
    Arch Pediatr 18:1095-9. 2011
    b>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...
  45. ncbi Histopathologic and trypsin digestion studies of the retina in incontinentia pigmenti
    W Robert Bell
    Eye Pathology Laboratory, Department of Pathology, Wilmer Institute, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA
    Ophthalmology 115:893-7. 2008
    To report the ocular histopathologic features of a 55-year-old patient with incontinentia pigmenti retinopathy.
  46. ncbi Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: a case report, literature review and insight into pathogenesis
    Gregor 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.
  47. ncbi Clinical and molecular analysis of NF-kappaB essential modulator in Chinese incontinentia pigmenti patients
    Chao Chun Zou
    Department of Medicine, The Children s Hospital of Zhejiang University School of Medicine, Hangzhou, China
    Int J Dermatol 46:1017-22. 2007
    To analyze clinical manifestation and gene of NF-kappaB essential modulator (NEMO) in 12 pediatric incontinentia pigmenti (IP) patients.
  48. ncbi Incontinentia pigmenti mimicking a herpes simplex virus infection in the newborn
    Fusun Okan
    Department of Neonatology, Sisli Children s Hospital, Halaskargazi cad Sisli, 34394, Istanbul, Turkey
    Childs Nerv Syst 24:149-51. 2008
    b>Incontinentia pigmenti is a rare, X-linked dominant multisystem genodermatosis that presents at or soon after birth with characteristic cutaneous signs...
  49. ncbi Serial cytokine expressions in infants with incontinentia pigmenti
    Sui 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)...
  50. ncbi Late recurrence of inflammatory first-stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathologic mechanism
    Nathalie Bodak
    Service de Dermatologie, Hopital Necker Enfants Malades, Paris, France
    Arch Dermatol 139:201-4. 2003
    b>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...
  51. ncbi Incontinentia pigmenti: late sequelae and genotypic diagnosis: a three-generation study of four patients
    P Dutheil
    Division of Dermatology, , Paris, France
    Pediatr Dermatol 12:107-11. 1995
    Late 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...
  52. ncbi A dentofacial deformity associated with incontinentia pigmenti: report of a case
    P 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...
  53. ncbi Case report: orthodontic treatment of dental problems in incontinentia pigmenti
    T Yamashiro
    Department of Orthodontics, Okayama University Dental School, Japan
    Angle Orthod 68:281-4. 1998
    b>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...
  54. ncbi Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations
    Smail 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. 2011
    b>Incontinentia pigmenti (IP) is a multisystem disorder, in which cutaneous symptoms can be accompanied by dental, ocular, and central nervous system defects...
  55. ncbi Therapeutic use of topical corticosteroids in the vesiculobullous lesions of incontinentia pigmenti
    T I Kaya
    Department of Dermatology, School of Medicine, Mersin University, Mersin, Turkey
    Clin Exp Dermatol 34:e611-3. 2009
    b>Incontinentia pigmenti (IP) is a rare genodermatosis caused by a mutation of nuclear factor kappa B essential modulator gene...
  56. ncbi Multiple clinical manifestations and diagnostic challenges of incontinentia pigmenti--12 years' experience in 1 medical center
    Jenn Tzong Chang
    Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan, ROC
    J Chin Med Assoc 71:455-60. 2008
    b>Incontinentia pigmenti (IP) is a rare X-linked dominant disorder that involves ectodermal tissues of multiple systems. Previous reports are few in Taiwan...
  57. ncbi [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)...
  58. ncbi [Incontinence of pigment]
    M Rola
    An Pediatr (Barc) 60:601-2. 2004
  59. ncbi [Lethal neurological involvement during incontinentia pigmenti]
    F Bachevalier
    Service de Dermatologie, CHR Metz Thionville
    Ann Dermatol Venereol 130:1139-42. 2003
    We present a case of incontinentia pigmenti associated with lethal neurological involvement.
  60. doi Macular amyloidosis presenting in an incontinentia pigmenti-like pattern with subepidermal blister formation
    J J Wu
    J Eur Acad Dermatol Venereol 22:635-7. 2008
  61. ncbi Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology
    Alexander L Berlin
    Department of Dermatology, University of Illinois College of Medicine, 60612, USA
    J Am Acad Dermatol 47:169-87; quiz 188-90. 2002
    b>Incontinentia pigmenti is an uncommon X-linked dominant disorder, lethal in the majority of affected males in utero and variably expressed in females...
  62. ncbi A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentia pigmenti and a mutation in the NEMO pathway
    Timothy 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...
  63. ncbi A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti
    Julie Steffann
    Department of Genetics, Hopital Necker Enfants Malades, Paris, France
    Prenat Diagn 24:384-8. 2004
    b>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...
  64. ncbi Immunologic investigations in eight patients with incontinentia pigmenti
    S Menni
    Institute of Dermatologic Clinic 1st, University of Milan, Italy
    Pediatr Dermatol 7:275-7. 1990
    We studied eight patients with incontinentia pigmenti to investigate the possibility of immunologic abnormalities...
  65. ncbi Extensive cerebral infarction in the newborn due to incontinentia pigmenti
    Femke Maingay-de Groof
    Neonatal Intensive Care Unit, Erasmus MC Sophia Rotterdam, The Netherlands
    Eur J Paediatr Neurol 12:284-9. 2008
    b>Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal multisystem disorder characterized by skin lesions following Blaschko lines...
  66. ncbi Incontinentia pigmenti in male patients
    Theresa R Pacheco
    Department of Dermatology, University of Colorado Health Sciences Center, USA
    J Am Acad Dermatol 55:251-5. 2006
    b>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...
  67. ncbi 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 Xq28
    Nadine 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, ..
  68. pmc The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti
    Min 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. 2010
    b>Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system...
  69. ncbi Identification of a new NEMO/TRAF6 interface affected in incontinentia pigmenti pathology
    Jérémie 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...
  70. ncbi NEMO gene mutations in Chinese patients with incontinentia pigmenti
    Pa 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. 2010
    b>Incontinentia pigmenti is a rare, X-linked, dominant genodermatosis affecting skin, teeth, eyes, and central nervous system...
  71. pmc Incontinentia pigmenti in a newborn with NEMO mutation
    Young Lee
    Department of Dermatology, School of Medicine, Chungnam National University, Daejeon, Korea
    J Korean Med Sci 26:308-11. 2011
    b>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)...
  72. ncbi Incontinentia pigmenti: a window to the role of NF-kappaB function
    Anna L Bruckner
    Department of Dermatology, University of California, San Francisco, San Francisco, CA 94143 0316, USA
    Semin Cutan Med Surg 23:116-24. 2004
    b>Incontinentia pigmenti is an uncommon X-linked dominant genodermatosis primarily affecting females...
  73. ncbi Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature
    M O'Doherty
    Ophthalmology Department, Our Lady s Hospital, Crumlin, Dublin, Ireland
    Br J Ophthalmol 95:11-6. 2011
    ....
  74. ncbi Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
    Sophie 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)...
  75. ncbi Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization
    Luis M Franco
    Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA
    J Am Acad Dermatol 55:136-8. 2006
    We report the case of a male infant with incontinentia pigmenti (MIM 308310) and low-grade XXY mosaicism...
  76. pmc Incontinentia pigmenti: clinical observation of 40 Korean cases
    Beom Joon Kim
    Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea
    J Korean Med Sci 21:474-7. 2006
    b>Incontinentia pigmenti (IP) is an uncommon genodermatosis that usually occurs in female infants. It is characterized by ectodermal, mesodermal, neurological, ocular, and dental manifestations...
  77. ncbi A case of incontinentia pigmenti in Japan and its genetic examination
    Jane Huang
    Department of Ophthalmology, School of Medicine, Fukuoka University, Fukuoka, Japan
    Jpn J Ophthalmol 51:142-5. 2007
    b>Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis with approximately one-third of cases with associated ocular complications...
  78. pmc Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome
    S Kenwrick
    Addenbrooke s Hospital, Cambridge, UK
    Am J Hum Genet 69:1210-7. 2001
    b>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...
  79. ncbi NEMO, NFkappaB signaling and incontinentia pigmenti
    David 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. 2006
    The 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 ..
  80. ncbi NEMO mutational analysis in a Japanese family with incontinentia pigmenti
    H Tada
    Eye (Lond) 21:888-90. 2007
  81. ncbi Female mice heterozygous for IKK gamma/NEMO deficiencies develop a dermatopathy similar to the human X-linked disorder incontinentia pigmenti
    C 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...
  82. pmc 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...
  83. ncbi Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives
    T A Phan
    Department of Dermatology, Sydney Children s Hospital, Randwick, NSW, Australia
    Clin Exp Dermatol 30:474-80. 2005
    A 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 ..
  84. ncbi Incontinentia pigmenti (IP2): familiar case report with affected men. Literature review
    Maria de la Luz Arenas-Sordo
    Centro Nacional de Rehabilitación S S, Mexico DF
    Med Oral Patol Oral Cir Bucal 10:E122-9. 2005
    b>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...
  85. ncbi Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion
    Tiziana Bardaro
    Institute of Genetics and Biophysics, Adriano Buzzati Traverso CNR, Naples, Italy
    Hum Mutat 21:8-11. 2003
    Familial incontinentia pigmenti (IP) is a rare X-linked dominant disorder that affects ectodermal tissues...
  86. ncbi NEMO/IKK gamma-deficient mice model incontinentia pigmenti
    M 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)...
  87. ncbi The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
    Asma 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...
  88. pmc Expression of eotaxin, an eosinophil-selective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti
    S Jean-Baptiste
    Department of Dermatology, Northwestern University Medical School, Chicago, IL, USA
    Clin Exp Immunol 127:470-8. 2002
    b>Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis primarily affecting female children...
  89. ncbi A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency
    Natalia Martinez-Pomar
    Immunology Service, Hospital Universitari Son Dureta, Andrea Doria, 55, 07014, Palma de Mallorca, Balearic Islands, Spain
    Hum Genet 118:458-65. 2005
    b>Incontinentia pigmenti is an X-linked genodermatosis, lethal in males...
  90. ncbi Male cases of incontinentia pigmenti: case report and review
    A E Scheuerle
    Department of Pediatrics, University of Texas Health Science Center Houston, USA
    Am J Med Genet 77:201-18. 1998
    Male 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...
  91. ncbi Successful treatment of severe retinal vascular abnormalities in incontinentia pigmenti
    Claudia Jandeck
    University Eye Clinic, Charite Campus Benjamin Franklin, Berlin, Germany
    Retina 24:631-3. 2004
  92. ncbi [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 ..
  93. ncbi Bullous recurrent eruption of incontinentia pigmenti
    A Patrizi
    Pediatr Dermatol 21:613-4. 2004
  94. ncbi Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
    S Mansour
    Department of Medical Genetics, St George s Hospital Medical School, Tooting, London, United Kingdom
    Am J Med Genet 99:172-7. 2001
    Familial 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...
  95. ncbi Localization of eosinophil granule major basic protein in incontinentia pigmenti
    N H Thyresson
    Department of Dermatology, Tufts University School of Medicine, Boston
    Pediatr Dermatol 8:102-6. 1991
    We 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...
  96. ncbi Incontinentia pigmenti presenting as seizures
    Jason N Hubert
    Department of Medicine, Division of Dermatology, University of Louisville, Louisville, Kentucky 40202, USA
    Pediatr Dermatol 19:550-2. 2002
    b>Incontinentia pigmenti is a rare disorder that may affect many systems including the skin, central nervous system, bone, and eyes...
  97. ncbi Hypochromic reticulated streaks in incontinentia pigmenti: an immunohistochemical and ultrastructural study
    V Nazzaro
    Centro per le Malattie Cutanee Ereditarie, University of Milan, Italy
    Pediatr Dermatol 7:174-8. 1990
    A 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...
  98. ncbi Fluorescein angiographic findings in a male infant with incontinentia pigmenti
    Giselle DeVetten
    University of Calgary, Calgary, Alberta, Canada
    J AAPOS 11:511-2. 2007
    b>Incontinentia pigmenti is a rare, X-linked dominant, genodermatosis and is almost always lethal in males...
  99. ncbi Visual diagnosis: a persistent newborn rash
    Lopa Shah
    University of Nevada School of Medicine, Las Vegas, Nevada, USA
    Pediatr Rev 28:429-32. 2007
  100. ncbi [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. 2001
    In 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...
  101. ncbi All that is vesicular is not herpes: incontinentia pigmenti masquerading as herpes simplex virus in a newborn
    Morayo Faloyin
    College of Medicine, University of Illinois, Rockford, Illinois, USA
    Pediatrics 114:e270-2. 2004
    b>Incontinentia pigmenti is a multisystem genodermatosis characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities...

Research Grants5

  1. MOLECULAR MECHANISMS LEADING TO RETT SYNDROME
    Uta 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 ..
  2. ANALYSIS AND CLONING OF A DEVELOPMENTAL SKIN LOCUS
    JEROME 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...
  3. Molecular Analysis of Xq28-Linked Incontinentia Pigmenti
    David Nelson; Fiscal Year: 2008
    b>Incontinentia pigmenti (IP) is an X-linked dominant and male-lethal disorder that mainly affects the skin, teeth, eyes, and central nervous system...
  4. HYPOHIDROTIC ECTODERMAL DYSPLASIA--A GENETIC ANALYSIS
    Jonathan 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. ..