Document Detail

Fundus features of a case of neurocutaneous melanosis.
MedLine Citation:
PMID:  15621879     Owner:  NLM     Status:  MEDLINE    
A 5-year-old girl with giant cutaneous congenital melanocytic nevi was examined because of right esotropia. She had multiple uveal coloboma-like lesions of various sizes and irregular areas of retinal pigment epithelial alterations in the right fundus. Magnetic resonance imaging studies demonstrated right-sided ventriculomegaly, right intraventricular presumed dysplastic neuroectodermal tumor, and right-sided cortical migration anomaly. The clearly lateralized ocular, cutaneous, and central nervous system findings in this patient may point towards a probable common underlying pathogenetic mechanism involving the neural crest cells at the center stage. These findings also help to strengthen the view that neurocutaneous melanosis may represent a rare form of phakomatosis.
Hayyam Kiratli; Afsun Sahin
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  25     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2004 Dec 
Date Detail:
Created Date:  2004-12-28     Completed Date:  2005-03-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  271-6     Citation Subset:  IM    
Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.
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MeSH Terms
Child, Preschool
Fundus Oculi*
Magnetic Resonance Imaging
Melanosis / diagnosis*
Neurocutaneous Syndromes / diagnosis*
Nevus, Pigmented / diagnosis*

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