Laura M Richter
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  Founder

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INCONTINENTIA PIGMENTI BIBLIOGRAPHY

GENETICS

2185 "From ectodermal dysplasia to selective tooth agenesis"
AMERICAN JOURNAL OF MEDICAL GENETICS 2009 Sep;149A(9):2037-41.

2085 "X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis"
Arch Dermatol. 2008 Mar; 144(3):342-6. 5pp

1553 "X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kB signaling"
NATURE GENETICS March 2001 vol. 27 277 – 285 9pp

1984 "Clinical features of incontinentia pigmenti with emphasis on oral and dental abnormalities"
CLINICAL ORAL INVESTIGATION 2006 Dec Vol. 10 (4) 343-7 5pp

1452 "Incontinentia Pigmenti: Overcoming Cosmetic Challenges"
COMPENDIUM OF CONTINUING EDUCATION IN DENTISTRY Nov. 1999 Vol. 20 (11) 1034-6, 1038, 1040-1 5pp

1917 "A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency"
HUMAN GENETICS; 2005 Dec. Vol. 118 (3-4) 458-465 8pp

1722 "The NF-kB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes"
HUMAN MOLECULAR GENETICS 2002 Oct 1 (Vol. 11 (20) 2371-2375 5pp

1811 "Incontinentia Pigmenti: A Window to the Role of NF-kB Function"
SEMINARS IN CUTANEOUS MEDICINE AND SURGERY; June 2004 Vol. 23 (2) 116-24 9pp

1613 "NEMO/I KKy: linking NF-kB to human disease"
TRENDS IN MOLECULAR MEDICINE 2001 October Vol. 7 (10) 427-30 4pp

1569 "NF-kB signaling and human disease"
CURRENT OPINION IN GENETICS & DEVELOPMENT 2001, 11 300-306 7pp

 

NEUROLOGY

PDF - Learning Disabilities Are a Fundamental Hallmark of the Disease

2125 "Recurrent Stroke in a Child With Incontinentia Pigmenti"
JOURNAL OF CHILD NEUROLOGY 2009 Jan 16. 3pp

2122 "Destructive encephalopathy in incontinentia pigmenti"
DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY 2009 Feb; 51(2):162-3. Epub 2008 Nov 25 2pp

2294 "Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy"
BRAIN DEVELOPMENT 2010 July 6

2009 "Abnormal White Matter in a Nerologically Intact Child With Incontinentia Pigmenti"
PEDIATRIC NEUROLOGY Mar. 2007 Vol. 36 (3) 199-201 3pp

1492 "Disappearance of a White Matter Lesion in Incontinentia Pigmenti"
PEDIATRIC NEUROLOGY October 2000 Vol. 23 (4) 364-367 4pp

 

OPHTHALMOLOGY

1799 "The Importance of Screening for sight-threatening Retinopathy in Incontinentia Pigmenti"
PEDIATRIC DERMATOLOGY 2004 May-June Vol. 21 (3) 242-245 3pp

1739 "Retinal Tears Occurring at the Border of Vascular and Avascular Retina in Adult patients with Incontinentia Pigmenti"
RETINA, THE JOURNAL OF RETINAL AND VITREOUS DISEASES 2003 Vol. 23 (4) 574-576 3pp

2276 "Regression of retinal neovascularization after laser photocoagulation in incontinentia pigmenti"
RETINA 2010 Apr;30 (4):708-9

2097 "Early indirect laser photocoagulation to induce regression of retinal vascular abnormalities in incontinentia pigmenti"
ACTA OPHTHALMOLOGICA 4, Nov. 2008 2pp

616 "Spontaneous retinal reattachment in incontinentia pigmenti: "
RETINA 1998 18 (1); 75-77 3pp

646 "Persistence of fetal vasculature in the eyes of patients with incontinentia pigmenti (letter)"
ARCHIVES OF OPHTHALMOLOGY 1998 May 116 (5) 682-684 3pp

1833 "The Skin is Not the Predominant Problem in Incontinentia Pigmenti
ARCHIVES OF DERMATOLOGY; June 2004 Vol. 140 748-50 3pp

 

DERMATOLOGY

2298 "Incontinentia Pigmenti with vesicular stage in utero"
DERMATOLOGY ONLINE JOURNAL Oct. 2010 Vol. 16 No. 10.

2037 "Incontinentia pigmenti mimicking a herpes simplex virus infection in the newborn"
CHILDS NERVOUS SYSTEM, Epub 2007 July 14, 3pp.

2000 "Blistering rash in a neonate – not always herpes"
THE NEW ZEALAND MEDICAL JOURNAL Augst 2006 Vol 119 (1239) 3pp.

2279 "Vaccination as a probable cause of incontinentia pigmenti reactivation"
PEDIATRIC DERMATOLOGY 2010 Vol. 27 No 1 62-64.

2171 "Incontinentia pigmenti: treatment of IP with topical tacrolimus"
JOURNAL OF DRUGS IN DRMATOLOGY 2009 Oct;8 (10) 944-6. 3pp.

2153 "Therapeutic use of topical corticosteroids in the vesiculobullous lesions of incontinentia pigmenti.
CLINICAL AND EXPERIMENTAL DERMATOLOGY 2009 Jun 1 3pp .

2352 "Unusual primary cutaneous amyloidosis with an incontinentia pigmenti-like pattern"
INTERNATIIONAL JOURNAL OF DERMATOLOGY; 2011 Apr;50(4):485-7. 3pp.

1494 "Warty linear streaks of the palm and sole: possible late manifestations of Incontinentia pigmenti"
BRITISH JOURNAL OF DERMATOLOGY November 2000 Vol. 143 (5) 1102-3 2pp.

2330 "Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-?B essential modulator gene mutations."
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, INC. 2011 Mar; 64(3):508-15. 8pp .

2130 "Detection of HPV-15 in painful subungual tumors of incontinentia pigmenti: successful topical therapy with retinoic acid"
EUROPEAN JOURNAL OF DERMATOLOGY May-June 2009 Feb 12. Vol 19 (3) 1-5 5pp .

1853 "Painful subungual dyskeatotic tumers in Incontinentia Pigmenti"
JOURNAL OF AMERICAN ACADEMY OF DERMATOLOGY; April 2005 Vol. 52 (4) 726-29 4pp.

1754 "Nail dystrophy, an unusual presentation of incontinentia pigmenti"
BRITISH JOURNAL OF DERMATOLOGY 2003: 149: 1286-1288 3pp.

 

ULTRASOUND

2265 "Leukoencephalopathy: unusual sonographic finding in a neonate with incontinentia pigmenti"
JOURNAL OF ULTRASOUND MEDICINE 2010 Vol. 29 851-854.

1531 "Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti"
PRENATAL DIAGNOSTICS 2001 Dec. 21 (12) 1019-1021 3pp .

1497 "A pregnancy following PGD for X-linked autosomal dominant Incontinentia Pigmenti (Bloch-Sulzberger syndrome)"
EUROPEAN SOCIETY OF HUMAN REPRODUCTION AND EMBRYOLOGY December 2000 Vol. 15 (12) 2650-2652 3pp .

 

MALES

1600 "Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome"
AMERICAN JOURNAL OF HUMAN GENETICS 2001 Dec. Vol 69 (6) 1210-1217 8pp.

1538 "Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-y)"
AMERICAN JOURNAL OF HUMAN GENETICS February 8, 2001 7pp.

2242 "Incontinentia pigmenti in a Male Infant with Klinefelter Syndrome: A Case Report and Review of the Literature."
PEDIATRIC DERMATOLOGY 2010 August 26.

2064 "Incontinentia pigmenti: three new cases that demonstrate it is not only a matter of women"
ACTAS DERSIFILIOGRAFO; 2007 Mar;98(2):112-5 4pps.

1989 "Incontinentia pigmenti in male patients"
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY; 2006 Aug. Vol. 55 (2) 251-5 5pp.

1893 "Incontinentia pigenti (IP2): Familiar case report with affected men. Literature Review"
ORAL MEDICINE AND PATHOLOGY; 2005 July 1 10 Suppl 2:E122-9 8pp.

593 ‘Letter to the Editor’ Second Trimester Miscarriage of a Male Fetus With Incontinentia Pigmenti
AMERICAN JOURNAL OF MEDICAL GENETICS Nov. 16, 1998 80(3) 298-9 2pp.

*NOTE - ALL IP Bibliography articles supplied by IPIF are written by doctors and should be shared with your physician for review. These are for reference and education. They are not for diagnosing. Some are case studies and are inconclusive. Research is ongoing for IP. If you are interested in an article not included to date or question if a study was completed and article published please contact us and we will do our best to research for you. .

Articles listed may be obtained, at no charge, by writing a request to IPIF at ipif@ipif.org.

*Articles available written in other Languages and a Full List of available articles can be found at Complete IP Bibliography PDF which will be updated accordingly as new materials are available.

*ipif Links
Learning Disabilities Are a Fundamental Hallmark of the Disease
Complete IP Bibliography PDF.


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