Literature DB >> 27303177

A Case of a Surviving Male Infant with Incontinentia Pigmenti.

Ji Young Song1, Chan Ho Na1, Byoung Soo Chung1, Kyu Cherl Choi1, Bong Seok Shin1.   

Abstract

Incontinentia pigmenti (Bloch-Sulzberger's disease) is an X-linked dominantly inherited disorder which is usually lethal in hemizygous males, but rarely found in male infants. It can be explained by the presence of an extra X chromosome (Klinefelter's syndrome), hypomorphic mutations, and somatic mosaicism. We herein report a rare case of incontinentia pigmenti with typical course of skin manifestation in normal karyotype (46, XY) male infant.

Entities:  

Keywords:  Bloch-Sulzberger's disease; Incontinentia pigmenti

Year:  2008        PMID： 27303177      PMCID： PMC4903964          DOI： 10.5021/ad.2008.20.3.134

Source DB:  PubMed          Journal:  Ann Dermatol        ISSN： 1013-9087            Impact factor:   1.444


  12 in total

1.  Letter: Half chromatid mutations may explain incontinentia pigmenti in males.

Authors:  W Lenz
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

2.  Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

Authors:  J Clayton-Smith; P Watson; S Ramsden; G C Black
Journal:  Lancet       Date:  2000-09-02       Impact factor: 79.321

Review 3.  The skin is not the predominant problem in incontinentia pigmenti.

Authors:  Morton F Goldberg
Journal:  Arch Dermatol       Date:  2004-06

Review 4.  Male cases of incontinentia pigmenti: case report and review.

Authors:  A E Scheuerle
Journal:  Am J Med Genet       Date:  1998-05-18

5.  Incontinentia pigmenti. A world statistical analysis.

Authors:  R G Carney
Journal:  Arch Dermatol       Date:  1976-04

6.  Incontinentia pigmenti in male patients.

Authors:  Theresa R Pacheco; Moise Levy; James C Collyer; Nelida Pizzi de Parra; Cristobal A Parra; Marisel Garay; Gabriela Aprea; Silvia Moreno; Anthony J Mancini; Amy S Paller
Journal:  J Am Acad Dermatol       Date:  2006-05-15       Impact factor: 11.527

7.  Clinical study of 40 cases of incontinentia pigmenti.

Authors:  Smaïl Hadj-Rabia; David Froidevaux; Nathalie Bodak; Dominique Hamel-Teillac; Asma Smahi; Yasmina Touil; Sylvie Fraitag; Yves de Prost; Christine Bodemer
Journal:  Arch Dermatol       Date:  2003-09

8.  Incontinentia pigmenti in a boy with Klinefelter's syndrome.

Authors:  A D Ormerod; M I White; E McKay; A W Johnston
Journal:  J Med Genet       Date:  1987-07       Impact factor: 6.318

Review 9.  Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology.

Authors:  Alexander L Berlin; Amy S Paller; Lawrence S Chan
Journal:  J Am Acad Dermatol       Date:  2002-08       Impact factor: 11.527

10.  Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Authors:  Francesca Fusco; Tiziana Bardaro; Giorgia Fimiani; Vincenzo Mercadante; Maria Giuseppina Miano; Geppino Falco; Alain Israël; Gilles Courtois; Michele D'Urso; Matilde Valeria Ursini
Journal:  Hum Mol Genet       Date:  2004-06-30       Impact factor: 6.150
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  1 in total

1.  Incontinentia Pigmenti: A Case Report of a Complex Systemic Disease.

Authors:  Serena Gianfaldoni; Georgi Tchernev; Uwe Wollina; Torello Lotti
Journal:  Open Access Maced J Med Sci       Date:  2017-07-23
  1 in total

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