Sunday, 6 April 2014


Articles may be obtained, at no charge, by writing a request to IPIF at ipif@ipif.orgArticles available written in other languages can be found at Please visit our website for our fullINCONTINENTIA PIGMENTI BIBLIOGRAPHY Genetics 2185 “From ectodermal dysplasia to selective tooth agenesis”Mues GI, Griggs R, Hartung AJ, Whelan G, Best LG, Srivastava AK, D'Souza R.; 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” Mancini AJ, Lawley LP, Uzel G. Arch Dermatol. 2008 Mar;144(3):342-6. 5pp 1553 “X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused byimpaired NF-kB signaling” Rainer Doffinger, Asmae Smahi, Christine Bessia, Frederic Geissmann,Jacqueline Feinberg, Anne Durandy, Christine Bodemer, Sue Kenwrick, SophieDupuis-Girod, Stephane Blanche, Philip Wood, Smail Hadj Rabia, Denis J. Headon,Paul A. Overbeek, Francoise Le Deist, Steven M. Holland, Kiran Belani,Dinakantha A. Kumararatne, Alain Fisher, Ralph Shapiro, Mary Ellen Conley, EricReimund, Hermann Kalhoff, Mario Abinun, Arnold Munnich, Alain Israel, GillesCourtois, Jean-Laurent Casanova; NATURE GENETICS March 2001 vol. 27 277 – 2859pp 1984 “Clinical features of incontinentia pigmenti with emphasis on oral and dentalabnormalities” Snezana Minic, Gerd E.K. Novotny, Dusan Trpinac, Miljana Obradovic; CLINICAL ORALINVESTIGATION 2006 Dec Vol. 10 (4) 343-7 5pp 1452 “Incontinentia Pigmenti: Overcoming Cosmetic Challenges”Jeffrey S. Rouse, DDS; 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 inan incontinentia pigmenti female patient with immunodeficiency” Natalia Martinez-Pomar, IvanMunoz-Saa, Damian Heine-Suner, Ana Martin, Asma Smahi, Nuria Matamoros; HUMANGENETICS; 2005 Dec. Vol. 118 (3-4) 458-465 8pp 1722 “The NF-kB signalling pathway in human diseases: from incontinentia pigmenti toectodermal dysplasias and immune-deficiency syndromes” Asma Smahi, Gilles Courtois, Smail Hadj Rabia, Rainer Doffinger, Christine Bodemer, Arnold Munnich, Jean-Laurent Casanova, AlainIsrael; HUMAN MOLECULAR GENETICS 2002 Oct 1 (Vol. 11 (20) 2371-2375 5pp 1811 “Incontinentia Pigmenti: A Window to the Role of NF-kB Function”Anna L. Bruckner, MD; SEMINARS IN CUTANEOUS MEDICINE AND SURGERY; June 2004 Vol. 23 (2) 116-24 9pp 1613 “NEMO/I KKy: linking NF-kB to human disease”Gilles Courtois, Asmae Smahi, Alain Israel; TRENDS IN MOLECULAR MEDICINE 2001 October Vol. 7 (10) 427-30 4pp 1569 “NF-kB signaling and human disease”Swaroop Aradhya, David L. Nelson; CURRENT OPINION IN GENETICS & DEVELOPMENT 2001, 11 300-306 7pp Neurology 2125 “Recurrent Stroke in a Child With Incontinentia Pigmenti”Cartwright MS, White DL, Miller LM 3rd, Roach ES: JOURNAL OF CHILD NEUROLOGY 2009 Jan 16. 3pp 2122 “Destructive encephalopathy in incontinentia pigmenti”Hart AR, Edwards C, Mahajan J, Wood ML, Griffiths PD: DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY 2009 Feb;51(2):162-3. Epub 2008 Nov 25 2pp 2294 “Early infantile manifestations of incontinentia pigmenti mimicking acuteencephalopathy” Abe S, Okumura A, Hamano SI, Tanaka M, Shiihara T, Aizaki K, Tsuru T, Toribe Y,Arai H, Shimizu T. BRAIN DEVELOPMENT 2010 July 6 2009 “Abnormal White Matter in a Nerologically Intact Child With IncontinentiaPigmenti” Shannon A. Bryant, BS, Lane Rutledge, MD; PEDIATRIC NEUROLOGY Mar. 2007 Vol. 36 (3)199-201 3pp 1492 “Disappearance of a White Matter Lesion in Incontinentia Pigmenti”Hideto Yoshikawa, MD; Yumiko Uehara, MD; Tokinari Abe, MD; Yoshihiko Oda, MD; PEDIATRIC NEUROLOGY October 2000 Vol. 23 (4) 364-367 4pp Ophthalmology 1799 “The Importance of Screening for sight-threatening Retinopathy in IncontinentiaPigmenti” Gavin A.E.Wong, M.R.C.P., Colin E. Willoughby, F.R.C. Ophth, Richard Parslew,M.R.C.P., Stephen B. Kaye, M.D.; PEDIATRIC DERMATOLOGY 2004 May-June Vol. 21 (3) 242-245 3pp 1739 “Retinal Tears Occurring at the Border of Vascular and Avascular Retina inAdult patients with Incontinentia Pigmenti” Robert A. Equi MD, Harshi S. Bains MD PhD, Lee JampolMD, Morton F. Goldberg MD; RETINA, THE JOURNAL OF RETINAL AND VITREOUS DISEASES2003 Vol. 23 (4) 574-576 3pp  2276 “Regression of retinal neovascularization after laser photocoagulation inincontinentia pigmenti” Ranchod TM, Trese MT. RETINA 2010 Apr;30 (4):708-9 2097 “Early indirect laser photocoagulation to induce regression of retinal vascularabnormalities in incontinentia pigmenti” Figen Batioglu and Emin Özmert; ACTA OPHTHALMOLOGICA4, Nov. 2008 2pp 616 “Spontaneous retinal reattachment in incontinentia pigmenti: “Sharon Fekrat, MD, Mark S. Humayun, MD, PhD., Morton F. Goldberg, MD; RETINA 1998 18 (1); 75-77 3pp 646 “Persistence of fetal vasculature in the eyes of patients with incontinentiapigmenti (letter)” Arman K. Fard, MD, Morton F. Goldberg, MD. ARCHIVES OF OPHTHALMOLOGY 1998 May 116 (5) 682-684 3pp  Dermatology 1833 “The Skin is Not the Predominant Problem in Incontinentia Pigmenti”Morton F. Goldberg, MD; ARCHIVES OF DERMATOLOGY; June 2004 Vol. 140 748-50 3pp 2298 “Incontinentia Pigmenti with vesicular stage in utero”Osório F, Magina S, Nogueira A, Azevedo F. DERMATOLOGY ONLINE JOURNAL Oct. 2010 Vol. 16 No. 10 2037 “Incontinentia pigmenti mimicking a herpes simplex virus infection in thenewborn” Fusun Okan, Zuhal Yapici, Ali Bulbul; CHILDS NERVOUS SYSTEM, Epub 2007 July 14, 3pp 2000 “Blistering rash in a neonate – not always herpes”Rajiv Sinha, John Criddle, Elisabeth Wain, Aman Ghandari; THE NEW ZEALAND MEDICAL JOURNAL Augst 2006 Vol 119 (1239) 3pp 2279 “Vaccination as a probable cause of incontinentia pigmenti reactivation”Alikhan A, Lee AD, Swing D, Carroll C, Yosipovitch G. PEDIATRIC DERMATOLOGY 2010 Vol. 27 No 1 62-64 2171 “Incontinentia pigmenti: treatment of IP with topical tacrolimus”Jessup CJ, Morgan SC, Cohen LM, Viders DE.; JOURNAL OF DRUGS IN DRMATOLOGY 2009 Oct;8 (10) 944-6. 3pp 2153 “Therapeutic use of topical corticosteroids in the vesiculobullous lesions ofincontinentia pigmenti. Kaya TI, Tursen U, Ikizoglu G.: CLINICAL AND EXPERIMENTAL DERMATOLOGY2009 Jun 1 3pp 2352 “Unusual primary cutaneous amyloidosis with an incontinentia pigmenti-likepattern” Wan H.,Ran, (China) 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”A. DiLandro, L. Marchesi, A. Reseghetti, T. Cainelli; BRITISH JOURNAL OF DERMATOLOGYNovember 2000 Vol. 143 (5) 1102-3 2pp2330 “Clinical and histologic features of incontinentia pigmenti in adults withnuclear factor-κB essential modulator gene mutations.Hadj-Rabia S, Rimella A, Smahi A, Fraitag S, Hamel-Teillac D, Bonnefont JP, de Prost Y, Bodemer C. 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” Donati P, Muscardin L, Amantea A,Paolini F, Venuti A.: EUROPEAN JOURNAL OF DERMATOLOGY May-June 2009 Feb 12. Vol19 (3) 1-5 5pp 1853 “Painful subungual dyskeatotic tumers in Incontinentia Pigmenti”Alison Young, Pamela Manolson, Benard Cohen, Mitchell Klapper, Terry Barrett; JOURNAL OF AMERICAN ACADEMY OF DERMATOLOGY; April 2005 Vol. 52 (4) 726-29 4pp 1754 “Nail dystrophy, an unusual presentation of incontinentia pigmenti”N. Nicolaou, R.A.C. Graham-Brown; BRITISH JOURNAL OF DERMATOLOGY 2003: 149: 1286-1288 3pp Ultrasound 2265 “Leukoencephalopathy: unusual sonographic finding in a neonate withincontinentia pigmenti” Hung PC, Wang HS. JOURNAL OF ULTRASOUND MEDICINE 2010 Vol. 29 851-854 1531 “Hydrops fetalis in three male fetuses of a female with incontinentia pigmenti”Andreas Dufke, Brigitte Vollmer, Heidemarie Kendziorra, Susanne Mackensen-Haen, Ulrike Orth,Thorsten Orlikowsky, Andreas Gal; PRENATAL DIAGNOSTICS 2001 Dec. 21 (12)1019-1021 3pp 1497 “A pregnancy following PGD for X-linked autosomal dominant Incontinentia Pigmenti(Bloch-Sulzberger syndrome)” Rachel Pettigrew, Hung-Chih Kuo, Paul Scriven, Paula Rowell,Kalyani Pal, Alan Handyside, Peter Braude, Caroline Mackie Ogilvie; EUROPEANSOCIETY OF HUMAN REPRODUCTION AND EMBRYOLOGY December 2000 Vol. 15 (12)2650-2652 3pp Males 1600 “Survival of Male Patients with Incontinentia Pigmenti Carrying a LethalMutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome” The International IP Consortium; AMERICAN JOURNAL OF HUMAN GENETICS 2001 Dec. Vol 69 (6) 1210-1217 8pp 1538 “Atypical Forms of Incontinentia Pigmenti in Male Individuals Result fromMutations of a Cytosine Tract in Exon 10 of NEMO (IKK-y)” Swaroop Aradhya, Gilles Courtois,Aleks Rajkovic, Richard Alan Lewis, Moise Levy, Alain Israel, David L. Nelson; AMERICAN JOURNAL OF HUMAN GENETICS February 8, 2001 7pp 2242 “Incontinentia pigmenti in a Male Infant with Klinefelter Syndrome: A CaseReport and Review of the Literature.” Buinauskaite E, Buinauskiene J, Kucinskiene V, Strazdiene D,Valiukeviciene S.; PEDIATRIC DERMATOLOGY 2010 August 26 2064 “Incontinentia pigmenti: three new cases that demonstrate it is not only amatter of women” Feito-Rodríguez M, García-Macarrón J, Bravo-Burguillos ER, Vera-Casaño A, de Lucas-Laguna R. ACTAS DERSIFILIOGRAFO; 2007 Mar;98(2):112-5 4pps 1989 “Incontinentia pigmenti in male patients”Theresa R. Pacheco, MD, Moise Levy, MD, James C. Collyer, MD, Nelida Pizzi de Parra, MD, Cristobal A. Parra, MD, Marisel Garay, MD, Gabriela Aprea, MD, Silvia Moreno, MD, Anthony J. Mancini, Amy S. Paller,MD; 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” Maria de la Luz Arenas Sordo, Barbara Vallejo Vega, Edgar Hernandez Zamora, ArturoGalvez Rosas, Luis Alberto Montoya Perez; 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 WithIncontinentia Pigmenti” Koen Devriendt, Gert Matthijs, Jean-Pierre Fryns, Veronique Ballegeer’AMERICAN JOURNAL OF MEDICAL GENETICS Nov. 16, 1998 80(3) 298-9 2pp Articles may be obtained, at no charge, by writing a request to IPIF at ipif@ipif.orgArticles available written in other languages can be found at Please visit our website for our fullINCONTINENTIA PIGMENTI BIBLIOGRAPHY

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