Literature DB >> 21509293

A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti.

Sana Al-Zuhaibi1, Anuradha Ganesh, Ahmed Al-Waili, Faisal Al-Azri, Hashim Javad, Amna Al-Futaisi.   

Abstract

Incontinentia Pigmenti (IP), (OMIM # 308300), is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system. It is usually lethal in males; the disease has variable expression in an affected female. We report the case of a 6 month old girl who presented at Sultan Qaboos University Hospital, Oman, with neonatal seizures and hypopigemented/hyperpigmented skin lesions. She had multiple ophthalmic abnormalities and neurological manifestations which are discussed in this report.

Entities:  

Keywords:  Case report; Hypomelanosis of Ito; Incontinentia Pigmenti (IP); Neurologic diseases; Oman; Ophthalmic; Seizures

Year:  2009        PMID: 21509293      PMCID: PMC3074784     

Source DB:  PubMed          Journal:  Sultan Qaboos Univ Med J        ISSN: 2075-051X


  18 in total

1.  Ocular manifestations of incontinentia pigmenti.

Authors:  G Holmström; K Thorén
Journal:  Acta Ophthalmol Scand       Date:  2000-06

2.  Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling.

Authors:  Arianna Nenci; Marion Huth; Alfred Funteh; Marc Schmidt-Supprian; Wilhelm Bloch; Daniel Metzger; Pierre Chambon; Klaus Rajewsky; Thomas Krieg; Ingo Haase; Manolis Pasparakis
Journal:  Hum Mol Genet       Date:  2006-01-06       Impact factor: 6.150

Review 3.  Male cases of incontinentia pigmenti: case report and review.

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

4.  Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko.

Authors:  H Traupe
Journal:  Am J Med Genet       Date:  1999-08-06

5.  Incontinentia pigmenti. A longitudinal study.

Authors:  J E O'Brien; M Feingold
Journal:  Am J Dis Child       Date:  1985-07

Review 6.  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

7.  Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko.

Authors:  K S Nehal; R PeBenito; S J Orlow
Journal:  Arch Dermatol       Date:  1996-10

Review 8.  Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.

Authors:  B Fritz; W Küster; K H Orstavik; A Naumova; J Spranger; H Rehder
Journal:  Hum Genet       Date:  1998-10       Impact factor: 4.132

9.  Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging.

Authors:  A G Lee; M F Goldberg; J H Gillard; P B Barker; R N Bryan
Journal:  Arch Pediatr Adolesc Med       Date:  1995-05

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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