A female child with skin lesions and seizures case report of Incontinentia Pigmenti

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)157-161
Number of pages5
JournalSultan Qaboos University Medical Journal
Volume9
Issue number2
Publication statusPublished - Aug 1 2009

Fingerprint

Incontinentia Pigmenti
Eye Manifestations
Seizures
Eye Abnormalities
Oman
Multiple Abnormalities
Genetic Databases
Skin
Nails
Neurologic Manifestations
Hair
Tooth
Central Nervous System

Keywords

  • Case report
  • Hypomelanosis of Ito
  • Incontinentia Pigmenti (IP)
  • Neurologic diseases
  • Oman
  • Ophthalmic
  • Seizures

ASJC Scopus subject areas

  • Medicine(all)

Cite this

@article{07ead642c25c4dfd95ca94a84f8c724e,
title = "A female child with skin lesions and seizures case report of Incontinentia Pigmenti",
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.",
keywords = "Case report, Hypomelanosis of Ito, Incontinentia Pigmenti (IP), Neurologic diseases, Oman, Ophthalmic, Seizures",
author = "Sana Al-Zuhaibi and Anuradha Ganesh and Ahmed Al-Waili and Faisal Al-Azri and Hashim Javad and Amna Al-Futaisi",
year = "2009",
month = "8",
day = "1",
language = "English",
volume = "9",
pages = "157--161",
journal = "Sultan Qaboos University Medical Journal",
issn = "2075-051X",
publisher = "Sultan Qaboos University",
number = "2",

}

TY - JOUR

T1 - A female child with skin lesions and seizures case report of Incontinentia Pigmenti

AU - Al-Zuhaibi, Sana

AU - Ganesh, Anuradha

AU - Al-Waili, Ahmed

AU - Al-Azri, Faisal

AU - Javad, Hashim

AU - Al-Futaisi, Amna

PY - 2009/8/1

Y1 - 2009/8/1

N2 - 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.

AB - 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.

KW - Case report

KW - Hypomelanosis of Ito

KW - Incontinentia Pigmenti (IP)

KW - Neurologic diseases

KW - Oman

KW - Ophthalmic

KW - Seizures

UR - http://www.scopus.com/inward/record.url?scp=84923834201&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84923834201&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:84923834201

VL - 9

SP - 157

EP - 161

JO - Sultan Qaboos University Medical Journal

JF - Sultan Qaboos University Medical Journal

SN - 2075-051X

IS - 2

ER -