A CASE OF FACIAL ASYMMETRY Neurofibromatosis type 1 with subcutaneous mass in occipital region, bilateral lisch nodules of iris and cafe- au- lait spots
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Köksal Yuca 1 * , Nebi Yılmaz 2, Adnan Çınal 3, Ömer Etlik 4, Muzaffer Kırış 1
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1 Yüzüncü Yıl University, Medical School, Department of Otorhinolaryngology, Van, Turkey2 Yüzüncü Yıl University, Medical School, Department of Neurosurgery, Van, Turkey3 Yüzüncü Yıl University, Medical School, Department of Ophthalmology, Van, Turkey4 Yüzüncü Yıl University, Medical School, Department of Radiology, Van, Turkey* Corresponding Author

Abstract

Neurofibromatosis type 1 (NF1) has been a well-documented and described disease process since 1882, when it was first described by Friedrich von Recklinghausen (1). NF1 is a multisystem hamartomatous disorder with protean expression of cutaneous, neurologic, skeletal, visceral, and ocular manifestations (2). Children and adolescents with NF1 have a high incidence of CNS anomalies (3). Lisch nodules are a component of NF1 and, when present, are included in the clinical diagnostic criteria for NF1 but as an isolated finding are not considered diagnostic.

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Article Type: Letter to Editor

EUR J GEN MED, 2005, Volume 2, Issue 4, 180-181

https://doi.org/10.29333/ejgm/82341

Publication date: 15 Oct 2005

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