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

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 affect...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Sultan Qaboos University medical journal 2009-06, Vol.9 (2), p.157-161
Hauptverfasser: Al-Zuhaibi, Sana, Ganesh, Anuradha, Al-Waili, Ahmed, Al-Azri, Faisal, Javad, Hashim, Al-Futaisi, Amna
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung: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.
ISSN:2075-051X
2075-0528